| CYSTINOSIS, INFANTILE NEPHROPATHIC (CTNS) | |
|
219800
OMIM = Online Mendelian Inheritance of Men | |
|
213 | |
| Cystinosin | |
| 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 | |
| Laboratory findings | Cholesterol inc (serum) Creatinine dec (urine) Cystine inc (fibroblasts) Cystine inc (leucocytes) Phosphate dec (serum) Potassium inc (urine) Potassium normal/dec (serum) Sodium dec (serum) Thyroid-stimulating hormone (TSH) inc (serum) Thyroxine (T4) dec (serum) Uric acid normal/dec (serum) Uric acid inc (urine) |
| Symptoms | renal failure, chronic Amino acids, urine cerebral atrophy cognitive impairment corneal clouding corneal deposits dehydration dental abnormalities encephalopathy failure to thrive Fanconi syndrome feeding difficulties, poor feeding fever genu valgum Glucose tolerance, impaired growth retardation, poor growth hepatomegaly (large liver) hyperuricemia hypokalemia hypopigmentation hypothyroidism infertility liver involvement or dysfunction metabolic acidosis myopathy onset, childhood onset, infancy osteodystrophy osteopenia pancreatic dysfunction, endocrine pancreatic insufficiency photophobia or photosensitive defect in light-exposed area polydipsia (increased drinking) polyuria proteinuria puberty, delayed or missing renal failure, acute/chronic retinopathy rickets short stature skeletal changes, skeletal abnormalities skoliosis, kyphoskoliosis splenomegaly (large spleen) strokelike episodes swallowing difficulties |