Universität zu Köln

Sikora, Przemyslaw, Grenda, Ryszard, Kowalczyk, Malgorzata, Kiec-Wilk, Beata, Bienias, Beata, Rubik, Jacek, Szymczak, Maciej ORCID: 0000-0002-1248-081X, Nosek, Hanna, Surowiec, Paulina, Marquardt, Thorsten, Beck, Bodo B. and Zaniew, Marcin (2022). Nephropathic cystinosis in Poland: a 40-year retrospective study. Pol. Intern. Med., 132 (11). KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

Full text not available from this repository.

Abstract

Introduction Nephropathic cystinosis (NC) is a rare, autosomal recessive disorder leading to lysosomal accumulation of cystine. It is caused by mutations in the CTNS gene encoding a cystine co-transporter cystinosin. The infantile (INC) and juvenile (JNC) forms are distinguished. The former, responsible for 95% of cases, is characterized by development of renal Fanconi syndrome, end- stage kidney disease (ESKD), and extrarenal complications. A therapy with cysteamine significantly improves outcomes. There are limited data on NC in the Central Eastern European countries. Objectives We aimed to evaluate the prevalence, genetic background, and clinical course of NC in the Polish population. Patients and methods We performed a retrospective analysis of data of all identified NC patients in Poland. Results Between 1982 and 2017, 15 patients with NC (13 ICN, 2 JCN) were identified. The most common mutations of the CTNS gene were c.18(=)c. 21delGACT and c.681+1G>A, whereas only 2 patients carried the 57 kb deletion. The majority (11/13) of INC patients with limited access to the cysteamine therapy developed ESKD at a median age of 11 years and 9 of them received kidney transplants. Three INC patients died at a median age of 24 years. In contrast, 2 INC patients treated adequately present normal kidney function and growth at the age of 13 and 11 years. Two JNC patients presented a milder course. Conclusions The prevalence of NC in Poland is much lower than in the Western countries and its molecular background appears to be different. The unfavorable course in the majority of INC patients was caused by a limited access to the cysteamine treatment.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sikora, Przemyslaw UNSPECIFIED UNSPECIFIED UNSPECIFIED Grenda, Ryszard UNSPECIFIED UNSPECIFIED UNSPECIFIED Kowalczyk, Malgorzata UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiec-Wilk, Beata UNSPECIFIED UNSPECIFIED UNSPECIFIED Bienias, Beata UNSPECIFIED UNSPECIFIED UNSPECIFIED Rubik, Jacek UNSPECIFIED UNSPECIFIED UNSPECIFIED Szymczak, Maciej UNSPECIFIED orcid.org/0000-0002-1248-081X UNSPECIFIED Nosek, Hanna UNSPECIFIED UNSPECIFIED UNSPECIFIED Surowiec, Paulina UNSPECIFIED UNSPECIFIED UNSPECIFIED Marquardt, Thorsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zaniew, Marcin UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-690585
DOI:	10.20452/pamw.16320
Journal or Publication Title:	Pol. Intern. Med.
Volume:	132
Number:	11
Date:	2022
Publisher:	MEDYCYNA PRAKTYCZNA SP K SP ZOO
Place of Publication:	KRAKOW
ISSN:	1897-9483
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CYSTEAMINE; CHILDREN; INFANTILE; PROTEIN; MUTATIONS; SURVIVAL; GENE Multiple languages Medicine, General & Internal Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69058