Cystinuria is associated with excretion of which amino acid in urine
**Core Concept:** Cystinuria is a genetic disorder characterized by the abnormal excretion of cystine, an amino acid, in the urine. Cystine is a disulfide dimer of cysteine, and the primary defect in cystinuria is a deficiency in cystine transport across cell membranes.
**Why the Correct Answer is Right:** Cystinuria is caused by mutations in two genes: SLC3A1 and SLC7A9. These genes encode for proteins involved in cystine transport across cell membranes. Specifically, mutations in SLC3A1 result in a deficiency in rBAT (bicarbonate-coupled transporter), while mutations in SLC7A9 lead to a deficiency in y+LAT2 (cationic amino acid transporter). Both transporters are essential for cystine reabsorption and transport within the kidney, respectively. In the absence of these proteins, cystine remains in the urine, leading to its accumulation and stones formation.
**Why Each Wrong Option is Incorrect:** Option A (arginine) is incorrect because arginine is another amino acid, but it is not involved in cystine transport. Option B (isoleucine) is also incorrect because isoleucine is another amino acid and not related to cystine transport. Option C (cystine) is incorrect because cystine is the problematic amino acid in cystinuria, not a transporter or a gene involved in the disease. Option D (sodium ion) is incorrect because sodium ions are involved in the reabsorption of other amino acids, but not cystine transport.
**Clinical Pearl:** Cystinuria is a rare genetic disorder with an estimated prevalence of around 1:10,000 to 1:20,000 in the general population. Early diagnosis and management are crucial to prevent renal stone formation and its complications, such as chronic kidney disease, infections, and potential end-stage renal failure. Treatment typically involves lifestyle modifications (dietary restrictions) and pharmacological interventions, such as alkalinization of urine to reduce the supersaturation of cystine crystals and prevent stone formation. In some cases, surgical intervention (nephrostomy or ureteroscopy) may be necessary in severe cases of kidney stones.