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Diagnostic and clinical difficulties in the patient with staghorn urolithiasis in the course of cystinuria – case report

Katarzyna Jobs, Ewa Straż-Żebrowska, Anna Jung

Affiliation and address for correspondence
Pediatr Med rodz Vol 7 Numer 3, p. 253-256
Abstract

Cystinuria is a metabolic disorder leading to urine excretion of large amounts of cystine. Autosomal recessive genetic disorder is characterised by an impaired transport of cystine located in the proximal renal tubule and gastrointestinal tract. Cystine reaches high concentration within the urine and is insoluble enough to form stones. For diagnosis important are positive family history, the cyanide-nitroprusside positive test result and determination of cystine excretion in 24-h urine collection. Diagnosis can be confirmed by microscopic urine examination, which reveals typical hexagonal cystine crystals. Genetic tests can also be performed, but they are not necessary to plan treatment. Stone analysis should be performed, but we should keep in mind that all patients may form stones of compositions other than cystine. Treatment should be performed throughout patients life. Nevertheless recurrence rate is up to 60%. Recommended is low salt diet, urine alkalinization to pH values at least 7.5, application of chelating agents if the cystine excretion exceeds 3 mmol/day. Most cystinuria patients require multiple urological interventions with minimal invasive methods. We present here diagnostic and therapeutic difficulties in patient with cystinuria.

Keywords
cystinuria, staghorn urolithiasis, diagnosis, treatment, ESWL

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