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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
proteinuria
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
Sodium decreasedserum
Literature
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Clark NEGarman SCThe 1.9 A structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseasesJ Mol Biol002009
Schindler Det al.Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiencyN Engl J Med320261735-17401989
Ambrosetto GSantucci MSleep-related hypermotor seizures in aspartylglucosaminuria: a case reportEpilepsia5061638-16402009
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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Saito Set al.Structural basis of aspartylglucosaminuriaBiochem Biophys Res Commun37741168-11722008
Farini Aet al.Cell based therapy for duchenne muscular dystrophyJ Cell Physiol002009
Sundaram SSet al.Mechanisms of disease: Inborn errors of bile acid synthesisNat Clin Pract Gastroenterol Hepatol5820082008
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
Weksberg RShuman C, Beckwith JBBeckwith-Wiedemann syndromeEur J Hum Genet002009
Thompson SAet al.Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiencyJ Neurol Neurosurg Psychiatry794448-4502008
Evans NPet al.Immune-mediated mechanisms potentially regulate the disease time-course of duchenne muscular dystrophy and provide targets for therapeutic interventionPM R18755-7682009
Lefebvre Let al.The interval between Ins2 and Ascl2 is dispensable for imprinting centre function in the murine Beckwith-Wiedemann region Hum Mol Genet002009