Avtor/Urednik		Kemperle, Matej; Kodrič, Robert; Rus, Rina
Naslov		Klinični primer bolnika s cistinurijo
Prevedeni naslov		Case report of a patient with cystinuria
Tip		članek
Vol. in št.		Letnik 27, št. 1
Leto izdaje		2020
Obseg		str. 20-25
ISSN		1318-4423 - Slovenska pediatrija [Združenje pediatrov Slovenije]
Jezik		slv
Abstrakt		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.
Proste vsebinske oznake		cystinuria kidney stones diagnosis cistinurija ledvični kamni diagnoza