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Cystinuria is a hereditary disorder characterized by a defect in the renal proximal convoluted tubule (PCT) and intestinal amino acid transporters. This defect prevents the reabsorption of certain amino acids, leading to their accumulation in the urine.
Feature | Details |
---|---|
Cause | Hereditary defect in renal and intestinal transporters |
Affected Amino Acids | Cystine, Ornithine, Lysine, Arginine (COLA) |
Inheritance | Autosomal recessive |
Prevalence | 1 in 7,000 individuals |
Characteristic Stones | Hexagonal cystine stones |
Diagnosis | Urinary cyanide-nitroprusside test |
Treatment | Urinary Alkalinization (potassium citrate, Acetazolamide), chelating agents (Penicillamine), good hydration |