Kasmi I, Kasmi G, Basholli B, Sefa H S, Vevecka E
University Hospital Center "Mother Teresa" (UHCMT), Pediatric Department, Tirana.
University of Medicine, Tirana (UMT), Laboratory Department.
Balkan J Med Genet. 2024 Sep 6;27(1):31-36. doi: 10.2478/bjmg-2024-0004. eCollection 2024 Jun.
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR). The aim of the study was to present a CFTR mutation analysis among the Albanian population and to identify rare variants.
We identified CFTR mutations in a representative cohort of CF patients comprising of Albanian patients and some Kosovo patients followed up by the Department of Pediatrics at the University Hospital Center "Mother Theresa" (UHCMT). Compiled clinical and genotypic data include 133 previously analyzed patients, of whom 116 have two identified mutations, 6 have only one known mutation, and 11 are unexamined.
The most frequent mutation is F508del (83.19%), followed by 621+1G>T (2.45%). Other mutations identified in decrease order are E822X, G85E, G542X, R1066C, R1070Q, R1158X, G1349D, N1303K, S466X, 1811+1G->C, E831X, CFTRdele2,3(21kb).
The data suggest that most of these patients can benefit from new modulatory therapies targeting CFTR mutations, translating to very hopeful prospects for these patients.The Albanian population would benefit from Cystic Fibrosis neonatal screening, since outcomes can be improved through early diagnosis.
囊性纤维化（CF）是一种遗传性疾病，其严重程度范围广泛，由囊性纤维化跨膜传导调节因子（CFTR）基因突变等位基因的遗传所致。本研究的目的是对阿尔巴尼亚人群进行CFTR突变分析并识别罕见变异。
我们在一个由阿尔巴尼亚患者和一些科索沃患者组成的CF患者代表性队列中识别CFTR突变，这些患者由“特蕾莎修女”大学医院中心（UHCMT）儿科进行随访。汇编的临床和基因型数据包括133名先前分析过的患者，其中116名有两个已识别的突变，6名只有一个已知突变，11名未接受检查。
最常见的突变是F508del（83.19%），其次是621+1G>T（2.45%）。按降序排列识别出的其他突变是E822X、G85E、G542X、R1066C、R1070Q、R1158X、G1349D、N1303K、S466X、1811+1G->C、E831X、CFTRdele2,3(21kb)。
数据表明，这些患者中的大多数可受益于针对CFTR突变的新型调节疗法，这为这些患者带来了非常有希望的前景。阿尔巴尼亚人群将从囊性纤维化新生儿筛查中受益，因为通过早期诊断可改善预后。
