Cystine urinary lithiasis in Thailand: a report of five cases

Cystine urinary stone is an autosomal recessive hereditary disease, frequently recurring and resisting fragmentation by Shockwave lithotripsy. As cases have never been reported before in Thailand, five cases of renal cystine stones at Ramathibodi Hospital were reported. Two were in the same family. In all cases the stones were removed by open surgery or percutaneous nephrolithotomy. Postoperatively, all the stones were analyzed by infrared spectroscopy for cystine. In two cases, cystine stones were also identified by scanning electron microscopy. Urine was analyzed for cystine by sodium cyanide-nitroprusside test, its concentration by spectrophotometry and cystine crystals were identified by the new crystal induction technique under light microscopy. By high-performance liquid chromatography (HPLC) test, urinary dibasic amino acids (ornithine, lysine, arginine) in these cases were also found to be significantly elevated. Clinical findings, diagnosis, treatment and prevention of cystine stones are reviewed.