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Summary
CYSTINOSIS
CYSTINOSIS, INFANTILE NEPHROPATHIC
219800
OMIM = Online Medalian Inheritance of Men
213
17p13.2
  • cysteamine (oral, eyedrops)
  • electrolyte supplementation
  • hemofiltration/hemodialysis/peritonealdialysis
  • kidney transplantation
  • L-carnitine
  • sunglasses
  • vitamin D
rare (1:100000)
autosomal recessive
lysosomal storage disorder, mutations in the CTNS gene

3 different types:

nephropathic (219800) -> most frequent form
- juvenile or adolescent nephropathic (219900)
- adult nonnephropathic (219750)

nephropathic cystinosis:
- early onset: 6-18 months
- late onset: 4-26 years
nonnnephropathic cystinosis:
- late onset, adult, benign
symptoms
Amino acids, urine
cerebral atrophy
corneal clouding
corneal deposits
dehydration
encephalopathy
failure to thrive
Fanconi syndrome
feeding difficulties, poor feeding
fever
growth retardation
hepatomegaly (large liver)
hypopigmentation
hypothyroidism
liver involvement (acute, chronic, hepatitis)
metabolic acidosis
myopathy
onset, child
onset, infant
pancreatic insufficiency
photophobia or photosensitive defect in light-exposed area
polydipsia (increased drinking)
polyuria
renal failure, acute/chronic
retinopathy
rickets
short stature
splenomegaly (large spleen)
strokelike episodes
laboratory finding
Cystine6.0014.00 0.20nmol/mg proteinfibroblasts
Cystine2.006.00 0.20nmol/mg proteinleucocytes
Potassium 3.505.50decreasedserum
Phosphorus, inorganic 1.301.90decreasedserum
Cholesterol6.0010.001.804.50mmol/lserum
Creatinine0.000.008.0020.00decreasedurineinfancy
Thyroid-stimulating hormone (TSH) 2.004.00increasedserum
Thyroxine (T4) 7.0015.00decreasedserum
Glucose tolerance, impaired serum
Literature
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991