Abstract

GUILLEN, Rosa; BLASCO, José; FUNES, Patricia  and  GRANADO, Dominich. Report of a case of cystinuria: Use of diagnostic tools at national level. Mem. Inst. Investig. Cienc. Salud [online]. 2018, vol.16, n.2, pp.94-99. ISSN 1812-9528.  https://doi.org/10.18004/mem.iics/1812-9528/2018.016(02)94-099.

Cystinuria is a genetic disease that is included among congenital defects of renal amino acids transport that causes urinary stone formation. Although it is rare, it is characterized by its high recurrence. We present the case of a 34-year-old patient that lost one of her kidney because of recurrent episodes of lithiasis, and that was diagnosed by the detection of cystine with infrared spectroscopy as the sole component of 96 stone fragments removed by percutaneous nephrolithotomy. The patient was evaluated by metabolic profile and crystalluria. The specific treatment indications included the administration of alkalinizing agents, nutritional regimen, and training for personal measurement of urinary pH. This case highlights the aggressiveness of cystine stones with the consequences that may have on the quality of the patient life, and therefore the importance of having installed proper diagnostic capacities at national level to detect and monitor treatment efficacy in genetic lithiasis such as cystinuria.

Keywords : cystinuria; urolithiasis; genetic kidney disease.

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