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.
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。