Matej Kemperle
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Robert Kordič
Klinični oddelek za urologijo, Kirurška klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Rina Rus
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana

Abstract

Cystinuria is a rare genetic disease characterised by the appearance of kidney stones. Clinically, it is manifested by renal pain, fever or haematuria. In untreated patients, stones may cause urinary tract obstruction and endanger the kidney. The diagnosis is made by a positive family his- tory of cystinuria, if pathognomonic hexagonal crystals of cystine are identified in the urine, or if the analysed stone contains cystine. The initial treatment for cystinuria consists of conservative measures such as increasing fluid intake, limiting sodium and protein intake and urine alkalisation. In addition, medicines containing sulphhydryl groups (e.g. thiopronin, D-penicillamine) are used. Urological surgery is rarely required.

Key words: cystinuria, kidney stones, diagnosis, therapy