Author/Editor		Kemperle, Matej; Kodrič, Robert; Rus, Rina
Title		Klinični primer bolnika s cistinurijo
Translated title		Case report of a patient with cystinuria
Type		članek
Vol. and No.		Letnik 27, št. 1
Publication year		2020
Volume		str. 20-25
ISSN		1318-4423 - Slovenska pediatrija [Združenje pediatrov Slovenije]
Language		slv
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.This article presents the case of a 16-year-old adolescent with cystine stones due to a heterozygous mutation on both alleles of the SLC3A1 gene as well as the diagnostic and therapeutic procedures with a review of the literature.
Keywords		cystinuria kidney stones diagnosis cistinurija ledvični kamni diagnoza