Abstract：
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 cotransporter 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.
We aimed to evaluate the prevalence, genetic background, and clinical course of NC in the Polish population.
We performed a retrospective analysis of data of all identified NC patients in Poland.
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.
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.
We aimed to evaluate the prevalence, genetic background, and clinical course of NC in the Polish population.
We performed a retrospective analysis of data of all identified NC patients in Poland.
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.
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.
摘要：
肾病性胱氨酸病（NC）是一种罕见的，导致胱氨酸溶酶体积累的常染色体隐性遗传疾病。它是由编码胱氨酸协同转运蛋白的CTNS基因突变引起的。婴儿（INC）和少年（JNC）形式是有区别的。前者,负责95%的案件，以肾性范可尼综合征的发展为特征，终末期肾病（ESKD），和肾外并发症.半胱胺治疗显著改善预后。中东欧国家关于NC的数据有限。
我们的目的是评估患病率，遗传背景,和波兰人群中NC的临床病程。
我们对波兰所有确诊的NC患者的数据进行了回顾性分析。
在1982年至2017年之间，有15例NC患者（13例ICN，2JCN)被确定。CTNS基因最常见的突变是c.18_c.21delGACT和c.681+1G>A,而只有2例患者携带57kb缺失。大多数（11/13）获得半胱胺治疗的INC患者在中位年龄11岁时发展为ESKD，其中9人接受了肾脏移植。三名INC患者的中位年龄为24岁。相比之下,2例接受充分治疗的INC患者在13岁和11岁时表现出正常的肾功能和生长。两名JNC患者表现出温和的病程。
波兰的NC患病率远低于西方国家，其分子背景似乎有所不同。大多数INC患者的不利病程是由于获得半胱胺治疗的机会有限所致。
我们的目的是评估患病率，
我们对波兰所有确诊的NC患者的数据进行了回顾性分析。
在1982年至2017年之间，有15例NC患者（13例ICN，
波兰的NC患病率远低于西方国家，其分子背景似乎有所不同。
