Abstract

GUILLEN, R et al. Cystine lithiasis: Case report. Mem. Inst. Investig. Cienc. Salud [online]. 2014, vol.12, n.1, pp.51-56. ISSN 1812-9528.

Cystinuria is a genetic disease which clinical expression is the formation of stones in the urinary tract. Even though this kind of lithiasis is rare, it is characterized by a high recurrence rate. In this work, we present the case of a 24-year-old female patient with cystine lithiasis in whom the diagnosis was made by detection of cystine crystals in urine samples and the presence of cystine as the only component of kidney stones spontaneously passed in two episodes and removed by percutaneous nephrolithotomy once in a period of six months. The treatment measures established were increase of the fluid intake, restricted protein and sodium diet and administration of alkaline agents to increase urinary pH. We also show the availability and use at national level of specialized laboratory techniques for the diagnosis and follow-up of cystinuric patients.

Keywords : lithiasis; cystine.

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