RESUMO
Cystinuria is a rare autosomal recessive trait with a defect in transport of cystine and other dibasic amino acids in the kidney and intestine. Renal stone formation is the only clinical presentation of cystinuria. We present herewith three cases with cystinuria. Case 1 is a 13-year-old boy known to have Bernard Soulier syndrome who presented at the age of six years with staghorn stone of the left kidney. He was treated with extracorporeal shock wave lithotripsy (ESWL) with little benefit, followed by percutaneous nephro-lithotomy (PCNL). He still gets recurrent renal stones and is being treated with high fluid intake, low sodium diet, captopril, K-citrate and D-pencillamine. Case 2 is a 10-year-old boy, brother of the first patient, who was diagnosed as cystinuria on family screening. He presented with bilateral tiny renal stones. Case 3 is a four-year-old girl who presented at the age of 1.5 years with urinary tract infection (UTI). Renal ultrasound showed left hydronephrosis and intravenous pyelography (IVP) showed bilateral ureteral stones. She underwent cystoscopy and lithiotripsy twice; currently she is on captopril, K-citrate, high fluid intake and low sodium diet. We believe this is the first report of cystinuria in children from Bahrain.
