Nephropathic cystinosis in Poland a 40-year retrospective study

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 . Nephropathic cystinosis in Poland a 40-year retrospective study. Pol. Intern. Med.. KRAKOW: MEDYCYNA PRAKTYCZNA SP K SP ZOO. ISSN 1897-9483

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DOI:10.20452/pamw.16320

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 com-mon 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