Diko : en:serum creatinine raised

(id=6796030)

en:serum creatinine raised

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C0700225

Inhib

⊗

›

IRC

(internet)

•

IRC

(physique)

Associations d'idées

[F]

›

1000

créatine sérique augmentée

•

en:neutrophil leukocytosis

•

en:increased creatinine

•

homocystéinémie

•

déficit en prolidase

•

tachycardie, hypertension, microphtalmie et hyperglycinurie

•

en:hyperlipoproteinemia type iib

•

en:hemophilia B

•

en:Tay-Sachs disease

•

polyglobulie

•

en:chronic kidney failure

•

en:increased pituitary follicle stimulating hormone level

•

en:positive antinuclear antibody test

•

en:decreased hdl cholesterol

•

IRC

•

acidurie glutarique

•

en:vitamin d deficiency

•

en:increased serum glutamine (patient a)

•

en:increased urinary hga

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:markedly decreased or absent serum 1,25-dihydroxyvitamin d3

•

en:low serum ceruloplasmin

•

en:low or absent prolactin (pl)

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:low plasma triglyceride level

•

en:low plasma citrulline

•

en:low or normal serum erythropoietin

•

en:low-molecular-weight proteinuria

•

en:increased urinary sialylglycopeptides

•

en:median mean platelet volume (mpv) 18fl

•

en:increased urinary oligosaccharides

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:intermittent ethylmalonic aciduria

•

en:increased platelet aggregation with ristocetin

•

en:inappropriately normal to low-normal serum 1,25-dihydroxyvitamin d3

•

en:increased serum 18-hydroxycorticosterone (18-ohb)

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:lysyl hydroxylase deficiency

•

en:increased ferritin

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:increased urinary 2-oxoglutaric acid

•

en:increased interleukin 10

•

en:immunoglobulin a decreased

•

en:iga antiendomysial antibodies (ema)

•

en:resistance to activated protein c due to factor v leiden

•

en:deletion (78kb to 1mb) of chromosome 8q24.3 including the scrib (607733) and puf60 (604819) genes

•

en:immotile or weakly motile cilia

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:elevated urinary 3-methylglutaconate

•

en:elevated serum lactate

•

en:aminoaciduria (less common)

•

en:decreased adenosylcobalamin

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:elevated cerebrospinal fluid (csf) protein

•

en:decreased-absent intestinal mucosa lactase activity

•

en:delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine

•

en:hypoglycorrhachia (low glucose in csf)

•

en:elevated uric acid on urinalysis (in some patients)

•

en:absent 7-dehydrocholesterol

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:elevated serum alkaline phosphatase during hyperplastic callus formation

•

en:granular osmiophilic deposits (grod) in cells resulting in 'curvilinear' profiles ultrastructurally

•

en:high serum osmolality

•

en:decreased short/branched-chain acyl-coa dehydrogenase protein levels and enzyme activity

•

en:elevated serum transaminases during infections

•

en:elevated urinary phosphoethanolamine

•

en:decreased natural killer cells

•

en:decreased serum androgens

•

en:decreased tetrasialo-transferrin

•

en:glycoamino aciduria

•

en:decreased csf serine

•

en:elevated alkaline phosphatase (varies from 1.3-20 times age-adjusted upper limit of normal)

•

en:elevated plasma follicle stimulating hormone (fsh)

•

en:decreased cholesterol (less common)

•

en:abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides)

•

en:acute hyperammonemia

•

en:bilirubin may or may not be increased

•

en:hypoketotic dicarboxylic aciduria (in some patients)

•

en:decreased peroxisomal fatty acid beta-oxidation

•

en:decreased activity of nadph oxidase

•

en:deficiency or absence of p47-phox protein (type i)

•

en:borderline elevated low-density lipoprotein

•

en:abnormal columnization of chondrocytes

•

en:decreased renal calcium excretion

•

en:decreased fibroblast beta-hexosaminidase

•

en:decreased fumarate hydratase activity

•

en:decreased or absent serum citrulline

•

en:cellular arrest at g2 of the cell cycle

•

en:decreased csf hypocretin

•

en:diffuse deposition of calcium oxalate in various tissues

•

en:hematuria (less common)

•

en:decreased serum factor i (atypical hus)

•

en:abnormal karyotype in 3 patients involving distal 6p

•

en:5-alpha-reductase-2 enzyme deficiency

•

en:inappropriately low urine osmolality

•

en:absence of cpt ii protein

•

en:abnormal liver function tests (in some patients)

•

en:abnormal liver enzymes (1 patient)

•

en:hyperglutaminemia

•

en:cytosolic phosphoenolpyruvate carboxykinase deficiency

•

en:4-hydroxyphenylpyruvic aciduria

•

en:elevated plasma stigmasterol

•

en:hyperglycolic aciduria

•

en:elevated gamma-glutamyltransferase

•

en:hyperphosphatemia

•

en:decreased tetrahydrobiopterin (bh4) in csf

•

en:gamma-glutamylcysteine deficiency

•

en:hemizygous deletion at 7q11.23

•

en:decreased tetrasialotransferrin levels

•

en:decreased t cells

•

en:fibroblasts show global defects in multiple mitochondrial respiratory chain activities

•

en:decreased plasma serine

•

en:elevated plasma alloisoleucine

•

en:decreased beta-galactosidase activity

•

en:decreased complement factor d

•

en:decreased activity of succinic semialdehyde dehydrogenase (ssadh, aldh5a1), less than 5% of control values

•

en:decreased serum l-transferrin (heterozygous patient)

•

en:decreased 3-beta-hydroxysteroid-delta-5-desaturase (sc5d)

•

en:decreased cpt1 activity

•

en:decreased blood levels of cationic amino acids

•

en:decreased activity of tyrosine hydroxylase

•

en:abnormal igfr1 function

•

en:calcium normal

•

en:glycogen storage disease type v

•

en:retroperitoneal fibrosis (smq)

•

en:cystathionine beta-synthase deficiency disease

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:hemophilia b

•

en:hyperprolinemia type 1

•

en:tubular cysts

•

en:renal hemangioblastoma

•

en:renal duplication (10%)

•

en:hyperchromatic nuclei

•

en:impaired renal concentrating ability

•

en:methionine adenosyltransferase deficiency

•

en:glomerulocystic dysplasia

•

en:renal abnormalities

•

en:glomerular dysfunction (variable)

•

en:aneurysm of renal artery

•

en:renal scarring

•

en:impaired reabsorption of chloride

•

en:polyuria (in some)

•

en:nephronophthisis (less common)

•

en:renal hypodysplasia

•

en:impaired renal function (variable)

•

en:renal disease, uncharacterized (in some patients)

•

en:nephrocalcinosis

•

en:structure of superior pole of kidney

•

en:urinary tract dilatation (in some patients)

•

en:renal tubular degeneration

•

en:kidney cyst

•

en:hypoaldosteronism, hyporeninemic

•

en:renal failure

•

en:biopsy shows dilated proximal tubules

•

en:thrombopenia

•

érythroblastose

•

en:transferase deficiency galactosemia

•

tubule rénal

•

en:pelviureteric junction obstruction

•

hématurie macroscopique

•

hypo-uricémie

•

hypocalcémie

•

acidurie glutarique de type 1

•

en:biotinidase deficiency

•

mucolipidose type II

•

en:hematuria

•

mucolipidose type ii

•

en:defective DNA repair

•

en:serum growth hormone increased

•

thrombopénie

•

thrombocytopénie

•

en:serum phenylalanine raised

•

en:increased urobilin

•

en:increased urinary excretion of uric acid

•

en:hemolytic-uremic syndrome requiring dialysis (1 patient)

•

en:abetalipoproteinemia

•

méthémoglobinémie

•

acido-cétose

•

hypogammaglobulinémie

•

cholestérol sanguin élevé

•

en:increased urinary s-(2-carboxypropyl)cysteine

•

en:increased serum unconjugated bilirubin

•

en:kypokalemia

•

en:increased serum vitamin b12

•

en:increased serum pyruvate in acute stage

•

en:lysosomal-like storage vacuoles in various tissues

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:low serum magnesium

•

en:increased serum beta-carotene

•

en:increased serum 1,25-dihydroxyvitamin d3

•

lactate augmenté

•

en:low free carnitine

•

en:increased urinary carnitine

•

en:increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)

•

en:isovalericaciduria

•

en:increased succinyladenosine (s-ado) in serum, urine, and csf

•

en:increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine

•

en:increased plasma phytanic acid

•

en:increased chromosomal rearrangements (bone marrow and fibroblast culture)

•

en:increased serum ige

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:increased serum acylcarnitines

•

en:increased urinary 2-butanone

•

en:increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:low level of c4 and c2

•

en:increased serum arylsulfatase a (10-20x)

•

en:increased tissue levels of triglycerides

•

en:increased urinary levels of maoa substrates (endogenous bioamines)

•

en:increased urinary 3-methylglutaconic acid

•

en:increased nasal-potential difference (1 of 3 patients)

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:rhabdomyolysis/myopathy (smq)

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:creatine phosphokinase serum increased

•

en:euvolemia

•

en:elevated crp

•

en:elevated plasma and urine succinylacetone

•

en:glucosuria, mild, intermittent

•

en:dyskinetic ciliary motility

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:igm deficiency

•

en:delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye

•

en:4-hydroxyphenylactic aciduria

•

en:decreased ubiquinone-10

•

en:hyperbilirubinemia in those with liver failure

•

en:decreased serum factor h (atypical hus)

•

en:fibroblasts show hypersensitivity to uv irradiation due to defect in transcription-coupled nucleotide excision repair (tc-ner)

•

en:decreased or normal serum factor i

•

en:elevated plasma luteinizing hormone (lh)

•

en:decreased mitochondrial complex iii activity (in liver, muscle, and fibroblasts)

•

en:elevated plasma cholestanol

•

en:decreased plasma hdl (<1/10 of normal levels)

•

en:decreased pyruvate carboxylase (pc) activity (less than 5%)

•

en:elevated urinary delta-aminolevulinic acid and porphyrins

•

en:hepatic argininosuccinate synthetase deficiency

•

en:decreased methylmalonyl-coa mutase activity

•

en:electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)

•

en:elevated serum n,n-dimethylglycine (dmg)

•

en:granular osmiophilic deposits (grod) in cells

•

en:cilia show nonflexible and hyperkinetic beating of axonemes

•

en:hyperprolinemia (10-15 times normal)

•

en:elevated d-2-hydroxyglutaric acid (urine, plasma, csf)

•

en:decreased levels of cpt2 protein

•

en:electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

•

en:decreased cobalamin in liver, kidney, and cultured fibroblasts

•

en:disproportionate work-related increase in blood lactate and pyruvate

•

en:decreased csf methyltetrahydrofolate (mthf)

•

en:decreased or absent peroxisome acyl-coa oxidase activity and protein

•

en:decreased reversible oxygen-binding capacity (e.g. hb l (bombay) 141800.9999)

•

en:defective t-cell proliferative responses (in some patients)

•

en:diverse tissue cell types (vascular endothelial cells, adipocytes, schwann cells, leukocytes) have membrane-lined cytoplasmic vacuoles with amorphous and filamentous material

•

en:decreased serum haptoglobin

•

en:chondroitin 6-sulfate excretion in urine

•

en:decreased or normal serum c3

•

en:decreased serum bun

•

en:decreased nasal nitric oxide

•

en:decreased activity of ampd1 in skeletal muscle increased serum creatine kinase

•

en:absent anti-insulin receptor antibodies

•

en:acylglycinuria

•

en:decreased activity of the e2 subunit (lipoyl transacetylase, 608770) of the pdh

•

en:decreased serum c3 (atypical hus)

•

en:abnormal liver enzymes, intermittent (1 patient)

•

en:bicarbonaturia

•

en:giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage

•

en:abnormal liver function tests (sgot, sgpt)

•

en:absent enteric ganglia beginning at rectum and extending proximally by varying degrees

•

en:abnormal liver enzymes, intermittent

•

en:decreased fbp1 enzyme activity

•

en:abnormal lipid profile

•

en:fluorescence in situ hybridization specific probe for mds critical region

•

en:4-hydroxycyclohexylacetic aciduria (adults)

•

en:decreased activity of phosphoglycerate kinase 1

•

en:acetylcholinesterase staining reveals nerve trunk hypertrophy

•

en:fibroblasts have increased activity of serine palmitoyltransferase (spt, 605712)

•

en:elevated urinary pge(2) levels

•

en:fibroblasts demonstrate rapid growth with increased dna synthesis

•

en:igg, decreased

•

en:decreased serum trypsinogen

•

en:hypertryptophanemia

•

en:electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links

•

en:granular osmiophilic deposits (grod) in cells resulting in 'fingerprint' profiles ultrastructurally

•

en:elevated plasma campesterol

•

en:elevated sed rate

•

en:ethylmalonic aciduria

•

en:galactosuria

•

en:decreased plasminogen antigen

•

en:decreased udp-glcnac

•

en:decreased serum glucosyltransferase (ggt) activity

•

en:'compensated hypothyroidism' with increased tsh and normal t4

•

en:decreased coq10 levels in lymphoblasts or fibroblasts

•

en:decreased levels of component x protein of the pdh complex

•

en:decreased mitochondrial complex v assembly

•

en:curvilinear intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased clot retraction

•

en:decreased grhpr activity

•

en:abnormal response of 25-hydroxyvitamin d-1-alpha-hydroxylase activity (609506) to hypophosphatemia

•

en:a small minority of patients have translocations and inversions involving 16p13.3

•

en:hypoglycemia, fasting

•

en:hawkinsinuria

•

en:hereditary fructose intolerance

•

en:electron microscopy shows foot-process effacement

•

en:hyperlysinemia

•

en:defective urinary concentrating ability

•

en:nephrogenic rests (rare, in males)

•

en:pelvicalyceal dilatation

•

en:renal cystic dysplasia (1 patient)

•

en:nephrocalcinosis (rare)

•

en:renal agenesis, unilateral (1 patient)

•

en:tabular atrophy

•

en:pseudomembranous, calcified plaques in the renal collecting system (rare)

•

en:horseshoe kidney (rare)

•

en:renal biopsy shows tubulointerstitial fibrosis

•

en:structural abnormalities, mild

•

en:cystic tubular dilatation in the corticomedullary area and medulla

•

en:adrenal hyperplasia, bilateral

•

en:renal parenchymal disease

•

en:hypoplastic renal arteries (rare)

•

en:chronic kidney insufficiency

•

en:nephronophthisis 2

•

créatinine sérique élevée

•

en:hyperlipoproteinemia

•

en:vitamin D deficiency

•

anurie

•

hypo-intense (signal IRM)

•

en:renal capsule

•

en:dysplastic kidney (1 patient)

•

Insuffisance rénale aiguë

•

en:glomerular filtration rate decreased

•

en:chronic renal dysfunction/failure

•

en:accumulation of truncated oligosaccharides man(5)glcnac2 and man(9)glcnac(2)

•

Coagulopathie intravasculaire disséminée

•

glomérulonéphrite extramembraneuse

•

hypoalbuminémie

•

en:hypophosphatasia infantile

•

insensibilité congénitale à la douleur de type III

•

lymphocytose

•

acidémie glutarique de type 1

•

en:I-cell disease

•

en:prothrombin time increased

•

hyperlipémie

•

en:chronic renal failure

•

en:plasma aldosterone normal

•

hypoaldostéronisme hyporéninémique

•

néphron

•

en:increased urinary glyoxylate (1 patient)

•

en:secondarily decreased activity of the pyruvate dehydrogenase complex (pdc)

•

en:increased serum alpha-alanine (patient b)

•

en:prolonged partial thromboplastin time

•

en:increased urinary catecholamines

•

en:increased urinary 2-methylbutyryl glycine

•

en:increased urinary thiosulfate

•

en:increased urinary neopterin

•

en:increased 18-oxocortisol

•

en:low serum igg and iga

•

en:low rai (radioactive iodine) uptake

•

en:low or normal serum calcium

•

en:increased ammonia with exercise

•

en:low to very low hdl cholesterol

•

en:marked elevation of serum c-reactive protein level (crp 123260)

•

en:increased urinary creatine-to-creatinine ratio

•

en:low-normal platelet count (89-290 x 10(9)/l)

•

en:large spermatozoa

•

en:keratan sulfate excretion in urine that decreases with age

•

en:increased serum thymidine

•

en:increased serum creatine kinase during episodes

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

en:increased urinary n-acetylated amino acids

•

en:intermittent 3-methylglutaconic aciduria

•

en:increased csf protein during acute illness

•

en:increased serum bile acids

•

en:increased csf and plasma ghb

•

en:increased bone serum acid phosphatase

•

en:increased plasma long-chain acylcarnitines

•

en:increased total bilirubin may occur

•

en:increased urinary thymine

•

en:increased plasma 2-methylbutyrylcarnitine

•

en:irregular distribution of chondrocytes, enlarged chondrocyte lacunae, excessive fibrous matrix, perilacunar loss of glycosaminoglycan, excessive collagen aggregation

•

en:iron overload (in some patients)

•

en:increased urinary dicarboxylic acid, transient

•

en:increased serum gamma-ggt (231950)

•

en:increased serum citrulline (group b)

•

en:increased blood alanine

•

en:red blood cell count raised

•

en:karyotype analysis normal finding

•

en:decreased whole blood serotonin

•

en:elevated urinary free sialic acid (n-acetylneuraminic acid)

•

en:anomalies of cholesterol levels

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:hepatic argininosuccinase deficiency

•

en:hyperhomocystinemia

•

en:elevated serum levels of adenosine

•

en:hyposthenuria (inability to concentrate urine normally)

•

en:hla-b27 haplotype association (95% patients)

•

en:hypocalcemia, transient

•

en:defective (ca2+) mobilization in t cells

•

en:elevated lathosterol

•

en:beta-galactosidase deficiency in fibroblasts and white blood cells

•

en:ferritin decreased

•

en:impaired oxidation of pyruvate

•

en:impaired response to gm-csf

•

en:characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)

•

en:elevated erythrocyte adenosine deaminase

•

en:high ft3/ft4 ratio

•

en:hypercholesterolemia (in 75%)

•

en:hyperbilirubinemia, unconjugated, 20-30mg/dl

•

en:hypophosphatemia (less common)

•

en:exercise-induced myoglobinuria in adults

•

en:hypocalciuria or normocalciuria

•

en:decreased xanthine dehydrogenase activity

•

en:granular osmiophilic deposits (grod) in cells resulting in 'rectilinear' profiles ultrastructurally

•

en:hyperkalemia (7.5 +/- 0.9 mm)

•

en:decreased levels of plasma factor viii

•

en:chronic hypoxemia

•

en:elevated plasma ornithine (~10-fold)

•

en:granular osmiophilic cytoplasmic deposits ultrastructurally in cells

•

en:elevated urinary and csf ribitol and d-arabitol

•

en:factor viii deficiency

•

en:decreased urinary calcium and phosphate excretion

•

en:delta-1-pyrroline-5-carboxylate dehydrogenase activity decreased in fibroblasts or leukocytes

•

en:elevated 1,25(oh)2 d3

•

en:decreased alpha-n-acetylgalactosaminidase protein

•

en:decreased tissue and serum alkaline phosphatase

•

en:deficiency of creatine phosphate in brain

•

en:decreased urocanic acid in blood, urine, and skin cells

•

en:decreased phosphoglycerate mutase 1 (pgam2) activity (2 to 6% of normal values)

•

en:decreased serum iga

•

en:deficiency or absence of p22-phox (608508) protein

•

en:'rectilinear profiles' ultrastructurally in cells

•

en:decreased activity of dihydrofolate reductase

•

en:decreased telomerase activity

•

en:decreased csf pyridoxal

•

en:hair bulb tyrosinase present

•

en:decreased glycerol kinase activity

•

en:decreased conversion of beta-carotene to vitamin a (retinol)

•

en:decreased phgdh activity (fibroblasts)

•

en:decreased activity of coenzyme q10-dependent respiratory chain complexes

•

en:decreased activity of pyruvate dehydrogenase complex

•

en:antiphospholipid antibody

•

en:decreased csf arginine

•

en:alkaline phosphatase normal

•

en:decreased carnitine palmitoyltransferase ii (cpt2) activity

•

en:elevated serum transaminase levels

•

en:abnormal glycosylation of serum transferrin, type 1 pattern

•

en:hla-dqw6 association (dqb1*0602)

•

en:acth normal

•

en:decreased acid beta galactosidase protein and activity

•

en:abnormal serum lipoprotein levels (in 3 of 10 patients)

•

en:elevated plasma methionine (methioninemia)

•

en:abnormal transaminases (1 patient)

•

en:frequent deletions of chromosome 9 in melanoma

•

en:hyperglycinemia (1 patient)

•

en:high plasma asparagine

•

en:elevated alkaline phosphatase of bone origin

•

en:elevated fecal levels of protoporphyrin and coproporphyrin at all times

•

en:hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)

•

en:fibronectin decreased

•

en:decreased insulin receptor binding

•

en:high ebv viral load

•

en:decreased activity of the pdh phosphatase

•

en:decreased hexokinase activity in red blood cells

•

en:elevated serum uric acid concentrations

•

en:elevated acth

•

en:decreased number of igf1 receptors (igf1r, 147370) on cell surface

•

en:creatine kinase normal between episodes

•

en:elevated erythrocyte aicar (zmp)

•

en:defect in mitochondrial and peroxisomal fission

•

en:elevated dihydrobiopterin in csf

•

en:decreased palmitate oxidation

•

en:decreased fibroblast iduronate sulfatase

•

en:decreased nk cells (in some patients)

•

en:decreased serum ceruloplasmin

•

en:decreased csf homovanillic acid (hva)

•

en:decreased dna excision repair

•

en:amorphous hyaline substance (skin biopsy and visceral organs)

•

en:decreased activities of multiple sulfatases

•

en:absent ch50 activity in complete c4 deficiency

•

en:bone marrow hypoplasia (in some patients)

•

en:hemoglobin f increased

•

en:indirect hyperbilirubinemia

•

en:blood creatinine increased

•

en:bilirubin conjugated increased

•

en:increased ige level

•

en:blood urea nitrogen increased

•

en:thyroid dyshormonogenesis 4

•

en:increased immunoglobulin

•

en:kidney part

•

en:renal biopsy shows glomerular sclerosis

•

en:hypernatremia

•

en:decreased kidney volume (1 patient)

•

en:immune complex nephritis

•

en:collapsing fsgs

•

en:diffuse mesangial sclerosis (less common)

•

en:primitive renal tubules may exist

•

en:echogenic kidneys

•

en:reduced excretion of calcium

•

en:increased renal tubular phosphate reabsorption

•

en:dilated calyces (rare)

•

en:discrete dilatation of the right kidney pelvis (rare)

•

en:microcystic dysplasia

•

en:swollen podocytes

•

en:hydronephrosis (secondary to ureteral compression from hydrometrocolpos)

•

en:increased echogenicity (1 of 2 patients)

•

en:hypernatraemia

•

abêtalipoprotéinémie normotriglycéridémique de type Steinberg

•

hta

•

insuffisance rénale non précisée

•

maladie de Tay-sachs

•

réparation défectueuse de l'ADN

•

galactosurie

•

hyperoxalémie

•

hyperphosphatémie

•

en:factor vii deficiency

•

neutrophilie

•

coagulation intravasculaire disséminée

•

en:elevated serum very long chain fatty acids (vlcfa)

•

en:increased bilirubin (patient b)

•

en:triglyceride decreased

•

en:androgens increased

•

hypobêtalipoprotéinémie

•

en:fibrinogen in blood above reference range

•

cholestérol normal

•

en:serum cholesterol raised

•

en:renal tubulopathy (patient a)

•

en:decreased activity of branched-chain ketoacid dehydrogenase (bckdh)

•

en:low growth hormone levels

•

en:isovalerylglycinuria

•

en:increased plasma renin activity

•

en:low or absent adrenocorticotropic hormone (acth) in some patients

•

en:increased urinary potassium

•

en:ketonuria (1 patient)

•

en:lactic acidemia (2p21del)

•

en:increased urinary homovanillic acid (hva)

•

en:increased serum acyl carnitines

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased serum thrombopoietin may occur

•

en:increased urinary carnitine esters

•

en:low to normal plasma methionine

•

en:low or undetectable insulin

•

en:increased toxic thioguanine nucleotides (tgns) on standard doses of thiopurine drugs

•

en:increased phytanic acid in body tissues and fluids

•

en:increased serum lactate

•

en:lack of excessive parenchymal iron storage

•

en:isochromosome 12p (i(12p))

•

en:increased serum c-reactive protein, episodic

•

en:increased plasma and urinary pipecolic acid

•

en:increased growth hormone (in 1 of 2 patients)

•

en:increased igm level

•

en:increased serum glutamine

•

en:increased serum lipoproteins

•

en:increased interferon-alpha signal

•

en:markedly decreased coproporphyrinogen oxidase activity (harderoporphyria, lymphocytes)

•

en:lactate high

•

en:increased urinary tricarboxylic acid intermediates

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased urinary excretion of cystine

•

en:increased excretion of urobilinogen

•

en:increased serum alpha-interferon (ifna1, 147660)

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:increased urinary adenosine

•

en:increased serum serotonin in 25%

•

en:increased levels of dihydroxyacetone phosphate (dhap) in tissues and red cells

•

en:increased long-chain acylcarnitine

•

en:increased serum creatine kinase (1 family)

•

en:fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

•

en:decreased plasma esterified cholesterol

•

en:gonadotrophin increased

•

en:elevated plasma propionylcarnitine

•

en:elevated circulating parathyroid hormone (pth) level

•

en:elevated sepiapterin in csf

•

en:elevated fasting triglycerides (seen in heterozygotes as well)

•

en:eosinophilia, mild

•

en:hyperammonemia after protein intake

•

en:homocysteinemia

•

en:elevated mchc

•

en:hyperammonemia, asymptomatic (2-5 times normal)

•

en:elevated liver function tests

•

en:hypermethioninemia, progressive

•

en:chromosome instability (hypo-/hyperdiploidy, chromosomal breaks, premature centromere division)

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:decreased urinary hva, 5-hiaa, and vanillyl mandelic acid (vma)

•

en:high serum guanosine levels

•

en:glycosuria (less common)

•

en:hyperglycinuria (disorder)

•

en:hyperchloremia (mean 111 mm)

•

en:decreased serum cobalamin

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

en:decreased dihydroxyacetone phosphate acyltransferase (dhap-at) activity

•

en:elevated plasma desmosterol

•

en:elevated bilirubin (bilirubinemia)

•

en:glutaric aciduria

•

en:elevated fasting glucose

•

en:deficiency or absence of p91-phox protein

•

en:elevated plasma beta-sitosterol (sitosterolemia or phytosterolemia)

•

en:alpha ketoadipic aciduria

•

en:elevated 3-hydroxypropionic acid

•

en:homocitrullinuria

•

en:elevated plasma insulin

•

en:chromosomal mosaicism in cultured cells

•

en:elevated total cholesterol (seen in heterozygotes as well)

•

en:defect in double-stranded dna repair

•

en:hypertriglyceridemia (in some patients)

•

en:decreased activity of ppt1

•

en:fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid

•

en:decreased activity of mitochondrial complex i

•

en:decreased activity of mitochondrial respiratory chain complex i

•

en:elevated calcitonin

•

en:decreased circulating aldosterone level

•

en:decreased scad activity

•

en:cells show defective transcription-coupled nucleotide excision repair (tc-ner) after uv irradiation

•

en:abnormal oral glucose tolerance

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin heavy chain (147100, 14q32) locus

•

en:decreased mitochondrial complex iii activity seen in muscle

•

en:decreased activity of mitochondrial respiratory complexes

•

en:glucose-6-phosphate deficiency

•

en:decreased circulating renin level

•

en:decreased alpha-n-acetylgalactosaminidase activity (less than 2% of control)

•

en:decreased serum free thyroxine

•

en:elevated plasma and urine inorganic pyrophosphate (ppi)

•

en:decreased plasma apolipoprotein c-ii

•

en:affected mother has reduced zinc levels in breast milk (may be up to 40% less than normal breast milk)

•

en:decreased 5-hydroxyindoleacetic acid (5-hiaa) in csf

•

en:absence of cd59 expression on red cells

•

en:decreased plasmalogens

•

en:decreased levels of plasma vwf antigen

•

en:decreased or absent alpha-n-acetylgalactosaminidase activity

•

en:decreased hepatic udp-glucuronyl-transferase activity

•

en:decreased activity of 2-methyl-3-hydroxybutyryl co-a dehydrogenase

•

en:decreased neopterin and biopterin in urine

•

en:decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex

•

en:decreased lecithin:cholesterol acyltransferase mass and activity

•

en:homozygous 122kb deletion 11p15-p14

•

en:extremely low creatine excretion

•

en:carriers have balanced constitutional translocation - 46,xx(or xy), +(11:22)(q23:q11)

•

en:abnormal urinary collagen-derived pyridinium crosslinks (absent glc-gal-pyd)

•

en:decreased coproporphyrinogen oxidase activity (hcp, lymphocytes, 50% of normal)

•

en:elevated serum protein

•

en:galactosylation defects

•

en:elevated erythrocyte sedimentation rate (mean 90mm/h)

•

en:decreased serum insulin-like growth factor-1 (igf1, 147440)

•

en:aldolase a deficiency

•

en:adrenocorticotropic hormone, increased

•

en:hypercalcemia

•

en:hypercholesterolemia (disorder)

•

en:hypomethylation of alpha-satellite repeats on chromosome 9

•

en:hypoglycosylated serum transferrin

•

en:elevated serum glutamic oxaloacetic transaminase (sgot)

•

en:foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy

•

en:dolichyl-p-glc:man(9)glcnac(2)-pp-dolichyl glucosyltransferase deficiency

•

en:elevated urinary delta-aminolevulinic acid

•

en:elevated csf/plasma glycine ratio

•

en:elevated erythrocyte adenosine deaminase (eada)

•

en:decreased lipid-linked oligosaccharides (llo)

•

en:absent platelet agglutination in presence of ristocetin

•

en:elevated cholesta-8,14-dien-3-beta-ol in cultured fibroblasts

•

en:elevated plasma acth

•

en:arylsulfatase b deficiency in fibroblasts and white blood cells

•

en:defect in oxidative phosphorylation

•

en:decreased or absent alpha-n-acetylgalactosaminidase protein

•

en:d-2-hydroxyglutaric aciduria

•

en:characteristic spheroids can be found in peripheral tissue, such as skin and conjunctiva

•

en:chromosomal rearrangement

•

en:decreased csf tetrahydrofolate and 5-methyltetrahydrofolate

•

en:decreased adiponectin

•

en:decreased atp synthase in muscle, heart, liver, and brain

•

en:accumulation of unprocessed mt-trna intermediates in skeletal muscle cells and fibroblasts

•

en:abnormal serum liver enzyme levels

•

en:abnormal isoelectric focusing of serum transferrin (type 2 pattern)

•

en:xanthine nephrolithiasis

•

en:gamma-glutamyltransferase increased

•

en:liver enzymes abnormal

•

en:elevated liver enzymes level

•

en:reactive hypoglycemia

•

en:transcobalamin ii deficiency

•

en:nephroblastomatosis

•

en:dilated cystic tubules

•

en:low fractional excretion of uric acid

•

en:interstitial inflammation

•

en:mesangial cell proliferation

•

en:nephronophthisis-like nephropathy

•

en:calyceal dilation

•

en:no kidney disease

•

en:tubulointerstitial atrophy

•

en:hypomagnesemia 2, renal

•

en:pyelonephritis (in some patients)

•

en:bicarbonate-wasting renal tubular acidosis

•

en:end-stage renal failure (in some patients)

•

en:thickening and disorganization of the glomerular basement membrane

•

en:renal cortical cysts

•

en:nephronophthisis (1 patient)

•

en:anuria

•

en:abnormal glomeruli seen on biopsy

•

en:hypertension

•

en:Bassen-Kornzweig disease

•

mucolipidose II

•

syndrome d'insuffisance rénale

•

en:focal segmental glomerulosclerosis

•

en:cystic nephroma

•

en:hyperlipemia

•

en:arterial hypertension

•

hypofibrinogénémie

•

néphroblastomatose

•

glomérulite

•

remaniement chromosomique

•

en:hyperlipidaemia

•

insuffisance rénale

•

en:serum bicarbonate increased

•

carence en vitamine d

•

insuffisance rénale chronique

•

acidocétose

•

coagulopathie intravasculaire disséminée

•

défaillance du rein

•

en:increased serum alpha-ketoglutarate

•

en:neutrophilia

•

en:mean platelet volume (mpv) 12.6fl

•

en:low csf creatine

•

en:low 25-oh-vitamin d level

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased urinary glycerol

•

en:increased plasma proglucagon

•

en:increased l-2-hydroxyglutaric acid in urine, serum, and csf

•

en:low-to-normal platelet count

•

en:increased lactate in spinal fluid

•

en:increased urinary delta-aminolevulinic acid (ala) and porphobilinogen (pbg) during acute attacks

•

en:increased ck-mb

•

en:low to normal tsh (values may vary depending on the measurement methods used)

•

lactate élevé

•

hypophosphatasie foetale

•

en:increased urine vanillactic acid (vla)

•

en:increased urinary ketones

•

en:increased csf taurine

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum uric acid

•

en:increased creatine kinase, mild to moderate

•

en:increased serum iduronate sulfatase (10-20x)

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased thyroid-stimulating hormone (tsh)

•

en:increased igg level

•

en:interstitial deletion of 17p11.2 (most common is 3.7mb)

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased csf threonine

•

en:increased urinary excretion of camp

•

en:increased serum lactate during metabolic crisis

•

en:increased serum creatine kinase in acute stage

•

en:increased prv-1 (162860) mrna

•

en:increased 18-ohb to aldosterone ratio

•

en:increased cholesterol

•

en:methemoglobinemia

•

en:decreased apoa-i and apoa-ii

•

en:decreased plasma total and free carnitine

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:decreased serum vitamin a

•

en:dhea sulfotransferase below limit of detection

•

en:elevated androstenedione

•

en:elevated alkaline phosphatase (if more than one affected site)

•

en:generalized amyloid deposition

•

en:hepatic ornithine transcarbamylase deficiency

•

en:1.61- and 1.76-mb microduplication of 3q29

•

en:decreased very long-chain acyl-coa dehydrogenase protein and activity

•

en:hyperthreoninuria

•

en:decreased dermal hydroxylysine content

•

en:folate-dependent fragile site at xq28

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency

•

en:chromosomal translocations involving c-myc (190080, 8q24) and the immunoglobin lambda light chain (147220, 22q11.2) locus

•

en:hypocalcemia (male)

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:growth cartilage disorganized, with islands of cells and abnormal collagen arrangement

•

en:decreased plasminogen activity

•

en:elevated plasma citrulline (citrullinemia)

•

en:fasting hyperinsulinemia

•

en:hypercholesterolemia

•

en:hyperphosphatemia, transient

•

en:fibroblasts show elongated, tangled, tubular mitochondria

•

en:excessive urinary 5-oxo-l-proline

•

en:hemizygous deletion at 4p16.3

•

en:fumarase activity (mitochondrial and cytosolic) is decreased

•

en:elevated ast (aspartate aminotransferase) and cpk (creatine phosphokinase)

•

en:coagulopathy (inr = 2.2 - 3.5)

•

en:excretion of dermatan sulfate and heparan sulfate in urine

•

en:defect in n- and o-glycosylation

•

en:dehydroepiandrosterone (dhea) at upper level of normal range

•

en:decreased cortisol-binding globulin

•

en:decreased amount and activity of mitochondrial complexes i and iv

•

en:hypogammaglobulinemia, profound

•

en:deficiency of laminin alpha-2 chain of merosin (lama2, 156225) in muscle

•

en:decreased serum thiamine pyrophosphate

•

en:diaminoaciduria (arginuria, lysinuria, cystinuria, ornithinuria)

•

en:decreased switched memory b cells

•

en:hypokalemia during periodic paralysis (most patients)

•

en:anti-factor viii positive

•

en:decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes

•

en:antineutrophil antibody positivity

•

en:accumulation of cholesterol esters in various tissues

•

en:elevated serum angiotensin-converting enzyme (ace)

•

en:decreased csf glycine

•

en:high m-component

•

en:decreased agt activity

•

en:cytogenetic breakpoints range from 10q23.3-q26.2

•

en:chromosomal instability

•

en:high serum inosine levels

•

en:decreased asparagine levels (in some patients)

•

en:abnormal isoelectric focusing of serum transferrin

•

en:a subset of group b patients have absence of pc protein and mrna

•

en:elevated serum levels of follicle stimulating hormone (fsh)

•

en:elevated 8(9)-cholestenol

•

en:decreased transferrin increased serum iron

•

en:hypoprebetalipoproteinemia

•

en:3-methylglutaric aciduria

•

en:histiocytic infiltration of liver, spleen, and lungs

•

en:hypoproteinemia (in 1 patient)

•

en:decreased tissue total and free carnitine

•

en:hypocalcemia

•

en:chromosome 11q23.3 deletion

•

en:elevated serum iron and iron binding capacity

•

en:glutathione deficiency

•

en:elevated hepatic transaminases

•

en:elevated 3-methylcitric acid

•

en:decreased arylsulfatase a (arsa) activity in urine, leukocytes, fibroblasts

•

en:4-hydroxyphenylpyruvic acid dioxygenase deficiency (hpd)

•

en:decreased long-chain fatty acid oxidation

•

en:decreased or normal serum factor b

•

en:cytogenetic deletion of chromosome 17p13.3

•

en:3-methylglutaconic aciduria (3-mgc)

•

en:decreased ciliary motility

•

en:5-hiaa csf may be normal or decreased

•

en:abnormal n-glycosylation of transferrin

•

en:abnormally low cerebrospinal fluid cystatin c

•

en:absent alkyl-dhap synthase activity

•

en:transaminitis

•

en:isovaleric acidemia

•

en:propionic acidemia

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:renal calculi (rare)

•

en:end stage renal disease (33% of patients)

•

en:loss of podocyte foot processes

•

en:membranoproliferative glomerulonephritis (in about 26%)

•

en:kidney biopsy shows absence of differentiated proximal tubules

•

en:focal glomerulosclerosis (in 33%)

•

en:renal amyloidosis, late-onset (uncommon)

•

en:membranous glomerulonephritis

•

en:chronic/endstage renal failure

•

en:median onset of renal failure 19 years

•

en:a subset of patients develop renal insufficiency with decreased creatinine clearance

•

en:chronic nephritis

•

en:thickening of the glomerular basement membrane on renal biopsy

•

en:renal corticomedullary cysts

•

en:dilated renal pelvis (rare)

•

en:polyuria

•

en:polycystic kidney - body part

•

en:medullary cystic renal disease

•

en:increased renal salt reabsorption

•

en:impaired renal absorption of cationic amino acids

•

en:calcinosis of the renal parenchyma

•

en:amyloid nephropathy

•

créatinine sérique augmentée

•

en:hyperlipoproteinemia type I

•

en:elevated anti-cyclic citrullinated peptide antibody level

•

néphrocalcinose

•

en:increased globulin

•

en:sweat test normal

•

en:erythroblastosis

•

en:high blood pressure

•

en:azotemia

•

en:increased mannoheptulose

•

en:uremia primary symptoms

•

en:increased serum insulin-like growth factor 1 {comment=hpo:probinson}

•

en:increased lactic acid level

•

hypo-bêtalipoprotéinémie

•

en:thrombocytopenia

•

en:impairment of urinary concentration

•

néphrite

•

en:kidney failure

•

en:multiple calyceal cysts

•

en:duplicated kidney (in some patients)

•

en:increased serum total cholesterol

•

en:increased d-glyceric acid in serum, urine, and csf

•

en:increased plasma free cholesterol

•

en:increased serum bile acid concentration during pregnancy, resolves postpartum

•

en:low urinary orotic acid

•

en:median mean platelet volume (mpv) 12.5fl

•

en:increased urinary excretion of coproporphyrin i

•

en:in untreated patients - elevated blood galactose urine reducing substances (galactosuria), hyperchloremic metabolic acidosis, aminoaciduria, elevated liver enzymes, albuminuria

•

en:long-chain dicarboxylic aciduria

•

en:marked elevation of erythrocyte sedimentation rate

•

en:low or absent thyrotropin (tsh)

•

en:increased urinary dopamine

•

en:low maximal oxygen uptake on exercise testing

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:markedly increased serum creatine kinase

•

en:increased fractional excretion of uric acid

•

en:low cholesterol esterification rates

•

hypophosphatasie infantile

•

en:loss of heterozygosity in giant cell astrocytomas, angiomyolipomas, rhabdomyomas

•

en:increased urinary hypoxanthine

•

en:increased urinary orotic acid (in some patients)

•

en:leukocyte inclusion bodies (em) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm

•

en:increased urinary prostaglandin e2

•

en:increased urinary dihydropyrimidines

•

en:low plasma arginine

•

en:increased serum fgf23

•

en:increased n-acetyl-l-aspartic acid (naa) in urine, csf, and blood

•

en:increased serum creatine kinase, mild

•

en:increased urinary cystine, arginine, lysine, and ornithine (hcs and 2p21del)

•

en:increased serum butyryl carnitine

•

en:ketoses, metabolic

•

en:increased urinary organic acids (in some patients)

•

en:increased csf homovanillic acid (hva)

•

en:increased serum methionine (reported in 2 cases)

•

en:increased fractional excretion of urate (greater than 50%)

•

en:increased osmotic fragility

•

en:increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3

•

en:dicarboxylic aciduria

•

en:hypertriglyceridemia, transient

•

en:electron microscopy of patient respiratory cells shows absent outer dynein arms

•

en:hyperprolinemia (5-10 times normal)

•

en:electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms

•

en:elevated inflammatory markers

•

en:homocystinuria (in some patients)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

•

en:decreased plasma and urinary ornithine

•

en:gaucher disease, type 1

•

en:fasting ketosis

•

en:hyperkalemia during attacks

•

en:hypomethylation of satellite repeats on chromosome 1, 9, and 16

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:elevated serum transferrin saturation

•

en:igg, elevated

•

en:decreased serum carnitine in acute stage

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:deficiency of serum properdin p factor

•

en:cortisol does not decrease on dexamethasone suppression test

•

en:decreased plasma triglycerides

•

en:fibroblasts attach poorly

•

en:fibroblasts accumulate dol-pp-glcnac2man5

•

en:elevated serum parathyroid hormone (pth) level

•

en:elevated urinary 2-ethylhydracrylate

•

en:disorganized growth plate cartilage

•

en:bile shows increased cholesterol/phospholipid ratio

•

en:abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)

•

en:decreased expression of gpi-anchored proteins on blood cells

•

en:frequent inv(10)(q11.2q21) producing chimeric transforming sequence ret/ptc

•

en:elevated gamma-glutamyltransferase (ggt)

•

en:elevated long-chain acylcarnitine species (in some patients)

•

en:deficiency of mitochondrial isovaleryl-coa dehydrogenase in fibroblasts

•

en:decreased acid sphingomyelinase activity

•

en:deficiency of prolidase activity in erythrocytes, leukocytes, or fibroblasts

•

en:creatine kinase levels may normalize with disease progression

•

en:decreased serum acth

•

en:decreased mucosal alkaline phosphatase

•

en:decrease or absence of cathepsin d (ctsd) protein immunostaining

•

en:decreased serum insulin-like growth factor-1 (igf1)

•

en:elevated ammonia

•

en:abnormal eeg in 25% hospitalized patients

•

en:abnormal nasal potential difference

•

en:decreased acid sphingomyelinase activity (less than 5%)

•

en:electrolyturia (1 patient)

•

en:high sister chromatid exchange (sce) rate

•

en:2-aminoadipic aciduria

•

en:abnormal urinary oligosaccharides

•

en:hyperchloremia (mean 114 mm)

•

en:cerebrospinal fluid lymphocytosis

•

en:decreased activity of mitochondrial respiratory complexes i, ii+iii, iv, and v

•

en:absent igg2 subclass

•

en:elevated progesterone

•

en:ceruloplasmin decreased

•

en:elevated biopterin in csf

•

en:decreased activity of mitochondrial respiratory complexes i, iii, and iv

•

en:abetalipoproteinemia (lab finding)

•

en:hypercalciuria (in childhood)

•

en:decreased serum follicle-stimulating hormone (fsh)

•

en:decreased activity of 3-hydroxyacyl-coa dehydrogenase in various tissues (liver, muscle, fibroblasts)

•

en:homocysteinemia (in some patients)

•

en:decreased csf 5-hydroxyindoleacetic acid (5-hiaa)

•

en:decreased activity of galactocerebrosidase

•

en:b lymphocytopenia

•

en:gaucher cells, diffuse, in spleen, liver, lymph nodes, bone marrow, central nervous system

•

en:defective dna repair after ultraviolet radiation damage

•

en:elevated androstenedione and testosterone

•

en:cilia show inner and outer dynein arm defects

•

en:elevated il6

•

en:decreased or absent pts activity

•

en:decreased prpp synthetase activity in erythrocytes and fibroblasts

•

en:decreased circulating cortisol level

•

en:decreased plasma zinc levels

•

en:decreased aminoacylase-1 activity

•

en:decreased fibrinogen (in some patients)

•

en:decreased acetyl-coa carboxylase activity

•

en:branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)

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en:cell studies show increased dna breakage

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en:aminoaciduria, mild (in some patients)

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en:familial dysautonomia

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Génériques

[F] [H]

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en:finding

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en:serum

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* trouvant

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6796030 • caches: c1=12 c2=1007 c3=1

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