Diko : en:hematuria, gross and microscopic

en:hematuria, gross and microscopic

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3278303

Inhib

⊗

›

IRC

(internet)

•

IRC

(physique)

Associations d'idées

[F]

›

1000

en:laboratory abnormalities

•

en:increased renal tubular phosphate reabsorption

•

en:methylmalonyl-coenzyme a mutase deficiency

•

en:absent kidneys (rare)

•

en:nephritis

•

en:calcium oxalate/carbonate urolithiasis

•

en:deposition of complement component c3 in glomerular basement membrane

•

en:adrenal hyperplasia, bilateral

•

en:renal phosphate wasting (in some patients)

•

en:proximal tubulopathy, generalized

•

en:cysts may be absent in over 50% of patients

•

en:absent kidney

•

en:abnormal mitochondria in podocytes

•

en:elevated aldosterone secretion

•

en:calyceal dilation

•

en:renal cysts (less common)

•

en:pelvic kidney

•

en:renal mesangiolipidosis

•

en:focal glomerulosclerosis (in 33%)

•

en:interstitial inflammation

•

en:nephrocalcinosis (rare)

•

en:renal agenesis/hypoplasia (in some patients)

•

en:renal failure, mild

•

en:renal agenesis, left-sided (1/4 patients)

•

en:anomalous renal pelvis (rare)

•

en:adult onset polycystic kidney (50%)

•

en:chronic inflammatory infiltrate, mild

•

en:congenital lobulation of kidney

•

en:renal parenchymal disease

•

en:basement membrane alterations in bowman capsule, tubules, and interstitial capillaries, with irregular thickening, splitting into multiple layers, and electron-lucent areas

•

en:intralobular nephrogenic rests

•

en:podocytes show microvillous transformation

•

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

•

en:end-stage renal disease (in some)

•

en:focal tubular atrophy

•

en:tubular dilation (1 of 2 patients)

•

en:median onset of renal failure 19 years

•

en:renal adysplasia

•

en:renal agenesis, unilateral (1 patient)

•

en:absence of renal corticomedullary differentiation

•

en:nephrocalcinosis (in some patients)

•

en:global glomerulosclerosis

•

en:mesangial cell proliferation

•

en:hyperlysinemia

•

en:hyperlipidemia

•

en:renal biopsy shows glomerular sclerosis

•

en:renal biopsy showed interstitial fibrosis

•

en:segmental capillary wall thickening

•

en:atrophic tubules

•

en:deposition of igg and complement seen on renal biopsy (in some patients)

•

en:horseshoe kidney (rare)

•

en:renal sodium wasting

•

en:biopsy shows dilated proximal tubules

•

en:recurrent urinary tract infection

•

en:renal biopsy shows chronic interstitial nephritis

•

en:polycystic kidney - body part

•

en:adrenal cortex atrophy (42%)

•

en:attenuation of the glomerular basement membrane

•

en:hypomagnesemia 2, renal

•

en:duplication of renal pelvis

•

en:impaired reabsorption of chloride

•

en:echogenic kidneys

•

en:argininosuccinic aciduria

•

en:microcystic kidney

•

en:glycogen storage disease type v

•

en:hawkinsinuria

•

en:tay-sachs disease

•

en:infantile hypophosphatasia

•

en:hereditary angioedema

•

en:sclerosing glomerulonephropathy

•

en:hematuria, gross (in some patients)

•

en:complement component deposition

•

en:renal tubular cell atrophy with corticomedullary cysts

•

en:glycogen storage disease type vii

•

en:swollen podocytes

•

en:enlarged mitochondria with paracrystalline inclusions

•

en:dilated bowman capsules

•

en:dysplastic kidney (1 patient)

•

en:normal glomerular function

•

en:mild subclinical decrease in renal function

•

en:calcinosis of the renal parenchyma

•

en:lipid accumulation in kidney, especially in proximal convoluted tubules

•

en:cystic dilation of tubules (in some patients)

•

en:kidney cyst

•

en:hypoplastic/dysplastic kidney

•

en:cystic kidneys (rare)

•

en:decreased renal function

•

en:biopsy shows decreased cytochrome c oxidase

•

en:ectopic kidneys (rare)

•

en:reduced excretion of calcium

•

en:duplicated collecting system

•

en:renal hypoplasia/aplasia

•

en:abnormal renal calyces

•

en:propionic acidemia

•

en:fucosidosis

•

en:normal kidneys

•

en:chronic/endstage renal failure

•

en:mild proteinuria (in some patients)

•

en:hyperchromatic nuclei

•

en:low fractional excretion of uric acid

•

en:methionine adenosyltransferase deficiency

•

en:loss of podocyte foot processes

•

en:swelling of endothelial cells

•

en:membranoproliferative glomerulonephritis (in about 26%)

•

en:congenital absence of kidney

•

en:glomerular dysfunction (variable)

•

en:aneurysm of renal artery

•

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

•

en:enlarged kidney

•

en:focal tubular dystrophy

•

en:kidney disorder

•

en:deformities of the calyceal system

•

en:glomerular basement membrane normal

•

en:double right kidney

•

en:renal cortical cysts

•

en:chronic nephritis

•

en:i-cell disease

•

en:renal hypodysplasia

•

en:renal potassium wasting

•

en:cystathionine beta-synthase deficiency disease

•

en:tubular cysts

•

en:dilation of renal tubules, mild

•

en:renal failure in adulthood

•

en:renal cystic dysplasia (1 patient)

•

en:primitive renal tubules may exist

•

en:collapsing fsgs

•

en:hydronephrosis (secondary to ureteral compression from hydrometrocolpos)

•

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

•

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

•

en:thickening and disorganization of the glomerular basement membrane

•

en:nephronophthisis (rare)

•

en:hypoplastic renal arteries (rare)

•

en:medullary cystic renal disease

•

en:tubulointerstitial atrophy

•

en:impaired renal absorption of cationic amino acids

•

en:amyloid nephropathy

•

en:renal failure

•

en:cystic kidney disease

•

en:adrenal hyperplasia

•

en:nephrocalcinosis

•

en:ultrasound shows hyperechoic kidneys

•

en:proximal tubulopathy

•

en:isovaleric acidemia

•

en:polyuria (in some)

•

en:prolidase deficiency

•

en:kidney part

•

en:nephroblastomatosis

•

en:uriniferous tubule

•

en:multicystic dysplastic kidney

•

en:renal anomalies (67% of patients)

•

en:pelvicalyceal dilatation

•

en:renal calculi (rare)

•

en:glomerulonephritis, autoimmune

•

en:nephronophthisis-like nephropathy

•

en:renal abnormalities

•

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

•

en:congenital hypoplasia of kidney

•

en:hyperoxalaemia

•

en:abnormal glomeruli seen on biopsy

•

en:polyuria

•

en:kidney lobe

•

en:structure of superior pole of kidney

•

en:thickening of the glomerular basement membrane on renal biopsy

•

en:end-stage renal disease (1 of 2 patients)

•

en:bilateral hydronephrosis

•

en:enlarged kidneys due to extramedullary hematopoiesis

•

en:entire kidney

•

en:increased renal salt reabsorption

•

en:narrowing of the ureteropelvic junctions

•

en:impaired renal function (variable)

•

en:immune complex nephritis

•

en:hypercalciuria

•

en:hyperinsulinemic hypoglycemia, familial, 7

•

en:dark urine following exercise

•

en:defective urinary concentrating ability

•

en:nephrolithiasis (hcs and 2p21del)

•

en:dysplastic renal parenchyma

•

en:diffuse mesangial sclerosis (less common)

•

en:microscopic hematuria

•

en:no kidney disease

•

en:abnormal renal pelvises

•

en:nephronophthisis (1 patient)

•

en:end-stage renal disease by third decade of life

•

en:renal corticomedullary cysts

•

en:microcystic dysplasia

•

en:proteinuria (rare)

•

en:fused kidneys (rare)

•

en:duplicated kidneys (rare)

•

en:dilated renal pelvis (rare)

•

en:anuria

•

en:kidney wilms tumor

•

en:chronic thrombotic microangiopathy

•

en:focal cystic changes

•

en:hyperechogenic kidneys (in some patients)

•

en:renal biopsy shows diffuse mesangial sclerosis

•

en:renal hemangioblastoma

•

en:tumors of the kidney (may progress to malignancy in less than 2%)

•

en:renal failure (most common cause of death) (iowa type 107680.0010)

•

en:hypernatremia

•

en:progressive renal failure

•

en:hemophilia b

•

en:renal duplication (10%)

•

en:glomerulocystic dysplasia

•

en:decreased kidney volume (1 patient)

•

en:uric acid urolithiasis

•

en:reduced renal corticomedullary differentiation

•

en:cystic kidneys (may be observed prenatally)

•

en:absence of corticomedullary differentiation (ultrasound)

•

en:cystic renal dysplasia (less common)

•

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

•

en:cortical calcifications (in some patients)

•

en:nephrogenic diabetes insipidus (less common)

•

en:renal tubular degeneration

•

en:enlarged kidneys without obstruction

•

en:cystic tubular dilatation in the corticomedullary area and medulla

•

en:renal biopsy shows tubulointerstitial fibrosis

•

en:urinary tract dilatation (in some patients)

•

en:patchy deposition of igg and igm

•

en:dilated calyces (rare)

•

en:renal amyloidosis, late-onset (uncommon)

•

en:glycogen storage disease type vi

•

en:dilated cystic tubules

•

en:impaired renal concentrating ability

•

en:nephrogenic rests (rare, in males)

•

en:electron microscopy shows foot-process effacement

•

en:renal scarring

•

en:multicystic dysplastic kidneys (prenatal onset)

•

en:double renal pelvis (in some patients)

•

en:horseshoe kidney (1 patient)

•

en:renal disease, uncharacterized (in some patients)

•

en:tabular atrophy

•

en:increased echogenicity (1 of 2 patients)

•

en:bicarbonate-wasting renal tubular acidosis

•

en:renal colic (in some patients)

•

en:increased glomerular cellularity

•

en:uric acid nephrolithiasis

•

en:hydronephrosis (male)

•

en:hypoaldosteronism, hyporeninemic

•

en:chronic kidney insufficiency

•

en:hypertension

•

en:pyelonephritis (in some patients)

•

en:diffuse sclerotic glomerulonephritis

•

en:renal failure, endstage (in some patients)

•

en:duplication of the renal pelvis (1 patient)

•

en:small kidney (reported in 1 patient)

•

en:nephronophthisis (less common)

•

en:transcobalamin ii deficiency

•

en:urocanase deficiency

•

en:hereditary fructose intolerance

•

en:hyperprolinemia type 1

•

en:thyroid dyshormonogenesis 4

•

en:secondary renal insufficiency

•

en:duplex renal system

•

en:kidney biopsy shows absence of differentiated proximal tubules

•

en:membranous glomerulonephritis

•

en:thickening of glomerular basement membrane

•

en:increased il-6

•

en:increased chromosomal breaks in response to cross-linking agents and ionizing radiation

•

en:increased serum triglycerides (in some patients)

•

en:increased serum 1,25-dihydroxyvitamin d

•

en:increased serum creatine kinase in acute stage

•

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

•

en:increased serum serotonin in 25%

•

en:increased csf homovanillic acid (hva)

•

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

•

en:increased serum citrulline (group b)

•

en:increased serum lactate dehydrogenase (in 1 family)

•

en:increased serum methionine (reported in 2 cases)

•

en:increased long-chain acylcarnitine

•

en:increased serum gamma-ggt (231950)

•

en:increased sensitivity to adrenergic and cholinergic agents

•

en:increased serum aryl-sulfatase a (10-20x)

•

en:increased neopterin in urine and csf

•

en:increased serum creatine kinase (1 family)

•

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

•

en:increased serum lactate in acute stage

•

en:intracellular accumulation of unesterified cholesterol

•

en:increased serum lactate during metabolic crisis

•

en:increased urinary oxylate

•

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

•

en:increased serum pancreatic secretory trypsin inhibitor (psti)

•

en:intracellular pas-positive polyglucosan inclusion bodies ('lafora' bodies) can be found in various tissues (brain, liver, muscle, heart, skin)

•

en:increased blood alanine

•

en:increased hepatic parenchymal cell stainable iron

•

en:increased urinary dopamine and dopamine metabolites (paradoxical)

•

en:incresased urinary pyruvate

•

en:increased csf threonine

•

en:increased tissue levels of triglycerides

•

en:increased urinary hydroxyisovaleric acid

•

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

•

en:increased urinary adenosine

•

en:increased erythrocyte sedimentation rate, episodic

•

en:increased serum and urinary 2-oxoglutarate

•

en:increased urinary 2-oxoglutaric acid

•

en:increased urinary excretion of camp

•

en:increased serum erythropoietin (epo, 133170)

•

en:increased urinary and serum glycine

•

en:increased urinary 3-methylglutaconic acid

•

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

•

en:decreased apoa-i and apoa-ii

•

en:increased 11-deoxycortisol

•

en:iga antiendomysial antibodies (ema)

•

en:erythroid colony-forming units show spontaneous growth in the absence of epo

•

en:decreased whole blood serotonin

•

en:enzyme replacement therapy has not been effective

•

en:decreased fibrillin-1 immunostaining in the dermis

•

en:gonadotrophin increased

•

en:decreased plasma lysine, glutamic acid, and glutamine

•

en:dicarboxylic aciduria

•

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

•

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

•

en:creatine phosphokinase increased

•

en:elevated sweat chloride (some)

•

en:amyloidosis, (iowa type 107680.0010, nonneuropathic 107680.0016)

•

en:hypoglycosylation of plasma glycoproteins

•

en:breastfed offspring have transient decrease of plasma zinc levels

•

en:deficient efflux of intracellular cholesterol

•

en:galactosuria without galactosemia

•

en:anomalies of cholesterol levels

•

en:elevated ferritin l subunit

•

en:hypertriglyceridemia, transient

•

en:immunoglobulin a decreased

•

en:decreased platelet derived growth factor

•

en:increased serum acylcarnitine during febrile crisis

•

en:increased alpha-fetoprotein in the mother during early pregnancy while carrying an affected fetus

•

en:increased prv-1 (162860) mrna

•

en:increased activity of the prpp synthetase 1 enzyme

•

en:increased csf, plasma, and urinary l-dopa

•

en:increased interleukin 10

•

en:increased osmotic fragility

•

en:increased lactate: pyruvate ratio (group b)

•

en:increased 18-ohb to aldosterone ratio

•

en:increased cholesterol

•

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

•

en:nonketotic hypoglycemia

•

en:hypogammaglobulinemia (in some patients)

•

en:methemoglobinemia

•

en:premature separation of centromeric heterochromatin

•

en:karyotype analysis normal finding

•

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

•

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

•

en:high-normal plasma triglyceride concentration (in heterozygotes)

•

en:decreased plasma total and free carnitine

•

en:decreased plasma esterified cholesterol

•

en:high urinary copper

•

en:isochromosome often missing in lymphocyte

•

en:low plasma tryptophan (inflammatory type b)

•

en:increased ferritin

•

en:increased csf and plasma ghb

•

en:increased serum ige

•

en:increased acetylcholinesterase (ache) in amniotic fluid

•

en:ketonuria, acute

•

en:low alkaline phosphatase

•

en:increased serum beta-hexosaminidase

•

en:increased serum acylcarnitines

•

en:increased 18-hydroxycortisol

•

en:low serum alpha-fetoprotein (recessive)

•

en:increased serum creatine kinase, mild

•

en:increased csf protein during acute illness

•

en:increased urinary 2-butanone

•

en:increased serum, urinary, and csf lysine

•

en:increased bone serum acid phosphatase

•

en:increased serum lipoproteins

•

en:increased platelet aggregation with ristocetin

•

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

•

en:low-normal igm

•

en:increased plasma long-chain acylcarnitines

•

en:increased serum alkaline phosphatase activity of skeletal origin

•

en:increased serum bile acids

•

en:increased serum glutamine

•

en:increased oxygen affinity (e.g. hb nunobiki 141800.0109)

•

en:increased serum uric acid

•

en:elevated urinary 7 alpha-hydroxylated bile alcohols

•

en:increased plasma phytanic acid

•

en:increased urinary cyclic amp (camp) in response to ddavp administration

•

en:increased serum fgf23

•

en:increased urinary n-acetylated amino acids

•

en:increased igm level

•

en:increased urinary o-linked sialopeptides

•

en:increased serum c26-bile-acid intermediates

•

en:increased serum parathyroid hormone (pth)

•

en:increased serum osteocalcin

•

en:increased csf lactate during acute episodes

•

en:increased cerebrospinal fluid (csf) protein (>100mg/dl)

•

en:increased pyruvate in serum and csf

•

en:increased disialotransferrin and asialotransferrin levels

•

en:low urinary excretion of neutral 17-ketosteroids

•

en:increased creatine kinase, mild to moderate

•

en:intermittent 3-methylglutaconic aciduria

•

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

•

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

•

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

•

en:increased interferon-alpha signal

•

en:increased total bilirubin may occur

•

en:increased urinary 2-methyl-3 hydroxybutyrate

•

en:lack of ciliary motility

•

en:lysyl hydroxylase deficiency

•

en:increased bile acid intermediates (dhca and thca)

•

en:lack of lysosomal inclusions in visceral organs

•

en:low or low-normal serum t4

•

en:increased urinary excretion of cystine

•

en:increased serum c4 and c5 acylcarnitine esters

•

en:increased excretion of urobilinogen

•

en:iron overload (in some patients)

•

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

•

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

•

en:ketoses, metabolic

•

en:increased urinary dicarboxylic acid, transient

•

en:increased igg level

•

en:increased urinary, plasma, and csf dihydrothymine

•

en:little to absent aspartylglucosaminuria activity

•

en:low level of c4 and c2

•

en:increased plasma dihydroxyphenylacetic acid (dopac)

•

en:increased sodium-potassium pump activity

•

en:increased urinary organic acids (in some patients)

•

en:increased urinary cross-linked n-telopetide of type i collagen

•

en:intracellular glycosphingolipid deposition in all tissues of the body

•

en:increased urinary thymine

•

en:increased urinary collagen type i n-telopeptide excretion (ntx) during hyperplastic callus formation

•

en:increased csf immunoglobulin levels

•

en:increased urinary 7-biopterin (primapterin)

•

en:increased thyroid-stimulating hormone (tsh)

•

en:low plasma methionine

•

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

•

en:increased vitamin e (alpha-tocopherol) levels

•

en:increased fibroblast free sialic acid

•

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

•

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

•

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

•

en:increased urinary succinic acid

•

en:increased serum transaminases (in 1 of 3 patients)

•

en:increased c10:2-carnitine

•

en:low copper and ceruloplasmin

•

en:increased plasma 2-methylbutyrylcarnitine

•

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

•

en:lactate high

•

en:increased urinary tricarboxylic acid intermediates

•

en:increased serum butyryl carnitine

•

en:increased serum s-adenosylhomocysteine

•

en:elevated plasma propionylcarnitine

•

en:hyperprostaglandinuria

•

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

•

en:low or absent iga levels

•

en:electron microscopy of foam cells shows lamellar inclusions

•

en:4-hydroxyphenylactic aciduria

•

en:fluorescence of red blood cells by uv microscopy

•

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

•

en:elevated erythrocyte adenosine deaminase

•

en:elevated pregnenolone

•

en:decreased serum thyroxine (t4)

•

en:glycosuria (less common)

•

en:hyperglycinuria (disorder)

•

en:hypoketotic hypoglycemia

•

en:hyperchloremia (mean 111 mm)

•

en:decreased axonal flare response after intradermal histamine injection

•

en:hair bulbs will pigment when incubated with tyrosine

•

en:elevated cerebrospinal fluid (csf) protein

•

en:glycogen accumulation in both liver and muscle

•

en:decreased-absent intestinal mucosa lactase activity

•

en:hyperkalemia during attacks

•

en:decreased ubiquinone-10

•

en:heparan sulfate excretion in urine

•

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

•

en:impaired response to gm-csf

•

en:elevated il1-beta

•

en:decreased adenosylcobalamin

•

en:fragmentation of the mitochondrial network

•

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

•

en:fibroblasts show lamellar lysosomal inclusions on electron microscopy

•

en:hypobetalipoproteinemias

•

en:aminoaciduria (less common)

•

en:dilated rough endoplasmic reticulum (rer)

•

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

•

en:ferritin decreased

•

en:elevated resting serum lactate, increased with exercise

•

en:fasting ketosis

•

en:decreased plasma and urinary ornithine

•

en:deficient hepatic 4-hydroxyphenylpyruvate dioxygenase

•

en:elevated urinary mevalonic acid

•

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

•

en:gaucher disease, type 1

•

en:high serum guanosine levels

•

en:hepatic glycine cleavage defect

•

en:decreased or absent dihydropyrimidine dehydrogenase activity

•

en:impaired oxidation of pyruvate

•

en:high ft3/ft4 ratio

•

en:hypercholesterolemia (in 75%)

•

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

•

en:high urinary orotic acid

•

en:hyperchloremia (mean >110 mm in both dominant and recessive)

•

en:high newborn serum levels of immunoreactive trypsinogen

•

en:decreased serum luteinizing hormone (lh)

•

en:elevated bilirubin (bilirubinemia)

•

en:deficiency of serum properdin p factor

•

en:hyponatremia in infancy

•

en:hyperphosphatemia, transient

•

en:absent 7-dehydrocholesterol

•

en:hypophosphatemia (less common)

•

en:elevated csf amino acids (arginine, ornithine, aspartate, threonine, glycine, and methionine)

•

en:hypertriglyceridemia (rare)

•

en:elevated 7-dehydrocholesterol

•

en:exercise-induced myoglobinuria in adults

•

en:high plasma triglyceride levels

•

en:hyperbilirubinemia in those with liver failure

•

en:hypocalciuria or normocalciuria

•

en:elevated serum glutamic pyruvic transaminase (sgpt)

•

en:decreased xanthine dehydrogenase activity

•

en:elevated antinuclear antibody (ana) (speckled pattern)

•

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

•

en:hypercholesterolemia

•

en:fibroblasts show decreased activity of mitochondrial respiratory complex i, complex iii, complex iv, and complex v

•

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

•

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

•

en:decreased serum cobalamin

•

en:cholesterol normal

•

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

•

en:erythrocyte delta-aminolevulinate dehydratase (alad) deficiency

•

en:decreased plasminogen activity

•

en:hypoglycorrhachia (low glucose in csf)

•

en:abnormal phospholipid profile

•

en:elevated plasma citrulline (citrullinemia)

•

en:elevated serum transferrin saturation

•

en:complex organic aciduria

•

en:igg, elevated

•

en:impaired n-glycosylation

•

en:decreased serum carnitine in acute stage

•

en:fasting hyperinsulinemia

•

en:fingerprint intracellular accumulation of autofluorescent lipopigment storage material

•

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

•

en:elevated plasma desmosterol

•

en:elevated blood spot hydroxybutyryl carnitine

•

en:high plasma citrulline (1000-5000 micromolar)

•

en:hypercholesterolemia (10%)

•

en:impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes

•

en:decreased serum vitamin a

•

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

•

en:generalized amyloid deposition

•

en:green serum

•

en:hepatic ornithine transcarbamylase deficiency

•

en:elevated pth (parathyroid hormone)

•

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

•

en:decreased dna polymerase-gamma (polg, 174763) activity

•

en:immediate (type i) skin test reactivity

•

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

•

en:eosinophilia, mild

•

en:high ornithine

•

en:atrial abnormalities on electrocardiogram

•

en:elevated inflammatory markers

•

en:hyperhomocystinemia

•

en:elevated testosterone

•

en:hyperammonemia after protein intake

•

en:deficiency of alpha-1,4-glucosidase (acid maltase)

•

en:hyperthreoninuria

•

en:decreased dermal hydroxylysine content

•

en:hypoproteinemia due to hypercatabolism

•

en:elevated sweat chloride

•

en:detection by rt-pcr, southern blot analysis, and fish for primary diagnosis and follow up for residual disease

•

en:elevated crp

•

en:euvolemia

•

en:fibroblasts show decreased mitochondrial complex v activity

•

en:hyperprolinemia (5-10 times normal)

•

en:elevated erythrocyte sedimentation rate (esr)

•

en:elevated white blood cell cystine

•

en:creatine phosphokinase serum increased

•

en:dhea sulfotransferase below limit of detection

•

en:elevated androstenedione

•

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

•

en:decreased serum complement factor h

•

en:cytoplasmic lamellar concentric inclusions

•

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

•

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

•

en:elevated circulating parathyroid hormone (pth) level

•

en:hematuria, macroscopic and microscopic

•

en:elevated propionate

•

en:elevated sepiapterin in csf

•

en:immotile or weakly motile cilia

•

en:elevated free carnitine

•

en:fibroblasts shows defects in oxidative phosphorylation

•

en:hepatic argininosuccinase deficiency

•

en:howell-jolly bodies seen in peripheral blood smear

•

en:folate-dependent fragile site at xq28

•

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

•

en:elevated lathosterol

•

en:hypocalcemia, transient

•

en:decreased activity of triosephosphate isomerase

•

en:elevated serum lactate

•

en:high plasma citrulline (100-300 micromolar)

•

en:elevated plasma branched chain amino acids (leucine, isoleucine, valine)

•

en:decreased plasma glycine

•

en:abnormal extrarenal response to ddavp (no increase in von willebrand factor or factor viii)

•

en:defective (ca2+) mobilization in t cells

•

en:hyperkalemia (>6.2 mm in both dominant and recessive)

•

en:carnitine palmitoyltransferase ii deficiency (25% of controls)

•

en:decreased or increased serum testosterone

•

en:hypermethioninemia, progressive

•

en:elevated serum alpha-fetoprotein (dominant)

•

en:homocystinuria (in some patients)

•

en:hepatic lipase deficiency (disorder)

•

en:high deoxypyridinoline/creatinine (in some patients)

•

en:glucose breath hydrogen test shows malabsorption of glucose and galactose

•

en:hypocalcemia (male)

•

en:decreased mitochondrial respiratory complexes i, iii, and iv in brain, heart, and skeletal muscle

•

en:elevated liver function tests

•

en:igm deficiency

•

en:homocysteinemia

•

en:decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid

•

en:elevated plasma and urine succinylacetone

•

en:decreased liver homogentisate 1,2-dioxygenase activity

•

en:elevated mchc

•

en:decreased heme-heme interaction (e.g. hb kanagawa 141800.0169)

•

en:elevated serum levels of luteinizing hormone (lh)

•

en:fumarylacetoacetate hydrolase (fah) deficiency

•

en:elevated urinary 3-methylglutaconate

•

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

•

en:elevated serum levels of adenosine

•

en:elevated afp (endodermal sinus tumor)

•

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

•

en:glucosuria, mild, intermittent

•

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

•

en:hyposthenuria (inability to concentrate urine normally)

•

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

•

en:elevated plasma adrenocorticotropic hormone (acth)

•

en:glcnac-transferase ii deficiency in fibroblast and mononuclear cells

•

en:dyskinetic ciliary motility

•

en:hypokalemia occurs during paralytic attacks

•

en:galactosyltransferase i deficiency in fibroblasts

•

en:low pyruvate carboxylase activity in liver and cultured fibroblasts

•

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

•

en:increased urinary 2-hydroxybutyrate

•

en:increased urinary excretion of uric acid

•

thrombopénie

•

en:hypoxemia

•

carence en vitamine d

•

avitaminose d

•

thrombocytopénie

•

en:'ghost' peroxisomes in fibroblasts seen on immunofluorescence microscopy

•

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

•

en:renal stones (in some patients)

•

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

•

en:holocarboxylase synthetase deficiency

•

en:exercise-induced acute renal failure (in some patients)

•

en:double stranded anti dna antibody

•

en:abnormal isoelectric focusing of serum transferrin, type 2 pattern

•

abêtalipoprotéinémie

•

en:chronic renal failure

•

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

•

hypo-bêtalipoprotéinémie

•

hypo-bêta-lipoprotéinémie

•

a-bêta-lipoprotéinémie

•

coagulation intravasculaire disséminée

•

en:raised tsh level

•

en:increased bilirubin (patient b)

•

en:hyperlipidaemia

•

en:Tay-Sachs disease

•

hypertension artérielle

•

en:high blood pressure

•

en:defective DNA repair

•

hypercalcémie

•

polyglobulie

•

en:prothrombin time increased

•

en:renal insufficiency

•

insuffisance rénale aiguë

•

en:serum iron normal

•

insuffisance rénale

•

en:chronic kidney failure

•

hyperlipémie

•

hyperlipidémie

•

en:serum bicarbonate increased

•

en:serum growth hormone increased

•

en:elevated alkaline phosphatase

•

en:azotemia

•

en:parathyroid hormone level increased

•

en:abetalipoproteinemia

•

en:triglyceride decreased

•

en:I-cell disease

•

carence en vitamine D

•

néphrite

•

hypogammaglobulinémie

•

acidurie glutarique

•

en:chronic kidney disease

•

cholestérol sanguin élevé

•

en:serum cholesterol raised

•

avitaminose D

•

déficit en vitamine D

•

carence en vit d

•

néphropathie amyloïde

•

en:vitamin d deficiency

•

hypertension

•

en:kidney failure

•

coagulopathie intravasculaire disséminée

•

défaillance du rein

•

en:renal tubulopathy (patient a)

•

en:multiple calyceal cysts

•

en:increased serum alpha-ketoglutarate

•

en:increased urinary glyoxylate (1 patient)

•

cholestérol normal

•

en:nephron

•

en:positive antinuclear antibody test

•

en:absent renal function

•

en:plasma aldosterone normal

•

en:hyperlipoproteinemia type i

•

en:transferrin saturation increased

•

en:thrombocytopenia

•

en:platelet aggregation decreased

•

en:androgens increased

•

en:decreased hdl cholesterol

•

en:impairment of urinary concentration

•

hypobêtalipoprotéinémie

•

en:hypoalbuminemia

•

cétoacidose

•

IRC

•

IRC

(médecine)

•

défaillance rénale chronique

•

insuffisance rénale chronique

•

hypoaldostéronisme hyporéninémique

•

méthémoglobinémie

•

néphron

•

acido-cétose

•

acidocétose

•

en:hemophilia B

•

mucolipidose type ii

•

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

•

défaillance rénale

•

HTA

(hypertension artérielle)

•

hta

•

hypo-albuminémie

•

polycythemia

•

calcium normal

•

insuffisance rénale non précisée

•

syndrome d'insuffisance rénale

•

non précisée, insuffisance rénale

•

en:focal segmental glomerulosclerosis

•

HTA

•

en:kidney diseases

•

en:renal capsule

•

en:hereditary factor x deficiency

•

Insuffisance rénale aiguë

•

en:glomerular filtration rate decreased

•

en:increased creatinine

•

en:transferase deficiency galactosemia

•

en:chronic renal dysfunction/failure

•

en:cystic nephroma

•

maladie de Tay-Sachs

•

hypertélorisme, hypospadias, polysyndactylie (syndrome)

•

Coagulopathie intravasculaire disséminée

•

azotémie

•

cétose de jeûne

•

hématurie

•

en:thrombopenia

•

en:and hyperglycinuria

•

en:hypoxaemia

•

en:hyperkaliaemia

•

déficit en biotinidase

•

en:disseminated intravascular coagulation syndrome

•

en:avitaminosis D

•

hypo-intense (signal IRM)

•

en:glutaric aciduria type 1

•

en:Bassen-Kornzweig's disease

•

en:Bassen-Kornzweig disease

•

en:glomerulonephiitis

•

en:defibrination syndrome

•

en:Leroy's i-cell disease

•

en:hyperlipoproteinemia type I

•

mucolipidose II

•

anurie

•

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

•

maladie de tay-sachs

•

remaniement chromosomique

•

acidurie glutarique de type 1

•

néphrocalcinose

•

en:nephronum

•

en:tachycardia

•

polyurie

•

déficit en prolidase

•

tachycardie, hypertension, microphtalmie et hyperglycinurie

•

en:glutaric aciduria, type 1

•

acidémie glutarique de type 1

•

en:glutaric acidemia type 1

•

en:hypophosphatasia infantile

•

en:hyperlipoproteinemia type iib

•

en:factor vii deficiency

•

en:sweat test normal

•

en:biotinidase deficiency

•

hypercalciurie

•

glomérulite

•

acidurie dicarboxylique

•

mucolipidose type II

•

en:hematuria

•

néphroblastomatose

•

hypofibrinogénémie

•

tubule rénal

•

glomérulonéphrite extramembraneuse

•

maladie de Tay-sachs

•

en:pelviureteric junction obstruction

•

bicarbonate sérique augmenté

•

réparation défectueuse de l'ADN

•

agrégation plaquettaire sai diminuée

•

agrégation des plaquettes diminuée

•

intolérance au fructose

•

fucosidose

•

galactosurie

•

gros rein

•

hypocalcémie

•

hématurie macroscopique

•

hématurie microscopique

•

homocystéinémie

•

en:hyperlipemia

•

hyperoxalémie

•

hyperphosphatémie

•

en:arterial hypertension

•

hypo-uricémie

•

hypoalbuminémie

•

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

•

en:duplicated kidney (in some patients)

•

en:increased serum levels of free plasma thyroid hormones

•

en:marked hypobetalipoproteinemia

•

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

•

en:increased csf transferrin despite normal serum transferrin levels

•

lactate augmenté

•

lactate élevé

•

hypophosphatasie infantile

•

hypophosphatasie foetale

•

en:increased triglycerides (less common)

•

en:low or absent thyroid-stimulating hormone (tsh)

•

en:increased lysine in serum and csf

•

en:increased urinary sialylglycopeptides

•

en:increased urinary, plasma, and csf n-carbamyl-beta-alanine

•

en:low ldl cholesterol

•

en:increased phytanic acid in body tissues and fluids

•

en:increased biopterin in urine and csf

•

en:karyomegaly may be found in other visceral organs

•

en:increased erythrocyte-membrane calcium-magnesium-atpase

•

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

•

en:large spermatozoa

•

en:increased serum lactate

•

en:median mean platelet volume (mpv) 18fl

•

en:increased urinary creatine-to-creatinine ratio

•

en:increased serum creatine kinase (less common)

•

en:low plasma citrulline

•

en:increased fractional excretion of uric acid

•

en:low or undetectable insulin

•

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

•

en:keratan sulfaturia in some patients

•

en:low or normal serum calcium

•

en:increased urinary 2-methyl-3-hydroxybutyric acid

•

en:low serum levels of ketone bodies

•

en:increased urinary, plasma, and csf d-2-hydroxyglutaric acid

•

en:increased urinary acetoacetic acid

•

en:markedly reduced igg levels

•

en:iron low

•

en:increased ammonia with exercise

•

en:low or normal serum erythropoietin

•

en:increased serum bilirubin due to hemolysis

•

en:low cholesterol esterification rates

•

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

•

en:low to very low hdl cholesterol

•

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

•

en:low-molecular-weight proteinuria

•

en:increased urinary malic acid

•

en:low free carnitine

•

en:markedly increased serum creatine kinase

•

en:increased tissue levels of free fatty acids

•

en:increased plasma and urinary pipecolic acid

•

en:increased serum pyruvate

•

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

•

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

•

en:lower total cholesterol

•

en:increased urinary prostaglandin e2

•

en:inclusion bodies (membrane-bound vacuoles) in fibroblasts

•

en:liver phosphorylase kinase (phk) deficiency

•

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

•

en:increased serum c-reactive protein, episodic

•

en:increased csf, plasma, and urinary 5-hydroxytryptophan (5htp)

•

en:increased serum thymidine

•

en:increased urinary dihydropyrimidines

•

en:low plasma arginine

•

en:increased serum and csf lactate

•

en:increased urinary citric acid cycle intermediates

•

en:increased serum creatine kinase during episodes

•

en:increased csf taurine

•

en:intermittent ethylmalonic aciduria

•

en:iodine depletion

•

en:intracellular fingerprint profiles on ultrastructural analysis

•

en:low levels of serum mg(2+) in the absence of other electrolyte disturbances

•

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

•

en:low or undetectable c-peptide

•

en:increased urinary carnitine

•

en:lack of excessive parenchymal iron storage

•

en:increased urinary vanillylmandelic acid (vma)

•

en:increased urine vanillactic acid (vla)

•

en:increased serum plasminogen activator inhibitor-1 (pai1, 173360)

•

en:increased serum alpha-mannosidase

•

en:increased urinary oligosaccharides

•

en:interstitial or terminal deletion of 18q

•

en:keratan sulfate excretion in urine that decreases with age

•

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

•

en:isovalericaciduria

•

en:increased urinary hypoxanthine

•

en:increased intracellular fmrp mrna

•

en:increased urinary 2-methylacetoacetic acid

•

en:increased urinary ketones

•

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

•

en:increased urinary uracil

•

en:increased urinary orotic acid (in some patients)

•

en:lacunar halos around chondrocytes in skeletal cartilage

•

en:low plasma triglyceride level

•

en:increased ck-mb

•

en:elevated liver enzymes during episodes

•

en:low csf creatine

•

en:increased serum unconjugated bilirubin

•

en:increased plasma renin activity

•

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

•

en:increased urinary potassium

•

en:increased plasma pristanic acid

•

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

•

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

•

en:ketonuria (1 patient)

•

en:increased urinary thiosulfate

•

en:isovalerylglycinuria

•

en:lactic acidemia (2p21del)

•

en:increased serum triiodothyronine (t3)

•

en:low 25-oh-vitamin d level

•

en:low serum ceruloplasmin

•

en:increased serum cholesterol (in 3 of 10 patients)

•

en:low urinary orotic acid

•

en:low serum levels of branched-chain amino acids

•

en:low acth level

•

en:kypokalemia

•

en:increased serum and cerebrospinal fluid levels of pipecolic acid

•

en:low growth hormone levels

•

en:median mean platelet volume (mpv) 12.5fl

•

en:glomerulonephritis

•

en:hyperammonemia during episodes

•

en:increased serum glutamine (patient a)

•

en:decreased activity of alpha-ketoglutarate dehydrogenase (alpha-kgdh)

•

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

•

en:increased serum alpha-alanine (patient b)

•

en:absence of protein-bound lipoic acid

•

en:prolonged partial thromboplastin time

•

glomérulonéphrite

•

glomerulonéphrite

•

hypertriglycéridémie

•

en:increased urinary 2-methylbutyryl glycine

•

en:acute renal failure

•

en:mean platelet volume (mpv) 12.6fl

•

en:increased serum total cholesterol

•

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

•

en:increased urinary hga

•

en:increased urinary formiminoglutamic acid (figlu)

•

en:increased urinary catecholamines

•

en:increased plasma free cholesterol

•

en:intermediate level of cellular sensitivity to uv light

•

en:intracellular redox disturbance (reduced cytoplasm and oxidized mitochondria (group b))

•

en:increased urinary homovanillic acid (hva)

•

en:increased ketone body or lactate/pyruvate plasma ratios

•

en:marked hypoalphalipoproteinemia (in some patients)

•

en:increased serum lactate dehydrogenase (ldh)

•

en:low serum magnesium

•

en:low serum igg and iga

•

en:low leukocyte alkaline phosphatase activity

•

en:low fasting glucose (in some patients)

•

en:low rai (radioactive iodine) uptake

•

en:low to normal plasma methionine

•

en:long-chain dicarboxylic aciduria

•

en:low or absent follicle stimulating hormone (fsh)

•

en:low or absent prolactin (pl)

•

en:increased serum lysine (group b)

•

en:marked elevation of erythrocyte sedimentation rate

•

en:increased urinary alpha-ketoglutaric acid, intermittent

•

en:low or absent thyrotropin (tsh)

•

en:increased serum beta-carotene

•

en:increased urinary dopamine

•

en:low maximal oxygen uptake on exercise testing

•

en:increased serum 1,25-dihydroxyvitamin d3

•

en:low or normal serum igm

•

en:low serum alkaline phosphatase in heterozygotes

•

en:increased urinary carnitine esters

•

en:increased serum acyl carnitines

•

en:increased serum thyroid-stimulating hormone (tsh)

•

en:increased urinary excretion of coproporphyrin i

•

en:intermittent increase of urinary ethylmalonic acid

•

en:increased serum vitamin b12

•

en:increased urinary glycerol

•

en:increased serum pyruvate in acute stage

•

en:low csf creatinine

•

en:increased tissue long-chain acylcarnitines

•

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

•

en:lysosomal-like storage vacuoles in various tissues

•

en:increased plasma proglucagon

•

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

•

en:low-to-normal platelet count

•

en:increased thymine and dihydrothymine in bodily fluids

•

en:increased urinary neopterin

•

en:increased free erythrocyte protoporphyrin

•

en:increased uracil and dihydrouracil in bodily fluids

•

en:increased 18-oxocortisol

•

en:increased serum thrombopoietin may occur

•

en:ketoacidosis

•

en:increased lactate in spinal fluid

•

en:deficient ribose-s-phosphate isomerase (rpi) in fibroblasts

◀

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6795760 • caches: c1=28 c2=1071 c3=24

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