Article
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Renal failure - 1 Dec 2021
Tkaczyk Marcin, Gadomska-Prokop Katarzyna, Załuska-Leśniewska Iga, Musiał Kinga, Zawadzki Jan, Jobs Katarzyna, Porowski Tadeusz, Rogowska-Kalisz Anna, Jander Anna, Kirolos Meritrafat, Haliński Adam, Krzemień Aleksandra, Sobieszczańska-Droździel Agnieszka, Zachwieja Katarzyna, Beck Bodo B, Sikora Przemysław, Zaniew Marcin
Abstract excerpt
BACKGROUND: Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1-2% of pediatric kidney stones. In this study, we sought to identify the clinical characteristics of patients with cystinuria in a national cohort. METHODS: This was a retrospective study involving 30 patients from the Polish Registry of Inherited Tubulopathies. Initial data and that...
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