Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis.
Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis.
复制标题
热带钙化性胰腺炎患者囊性纤维化跨膜调节基因的突变。
DOI：
10.1111/j.1572-0241.2000.03400.x
复制
发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Tsui,LC
中科院分区：
文献类型：
--
作者：
Bhatia,E;Durie,P;Zielenski,J;Lam,D;Sikora,SS;Choudhuri,G;Tsui,LC
致编辑：热带钙化性胰腺炎（TCP）是一种病因不明的慢性胰腺炎，是世界热带地区发展中国家特有的疾病（1）。TCP患者在年轻时出现严重腹痛和需要胰岛素的糖尿病。无酒精滥用史，也无慢性胰腺炎的其他常见病因。鉴于TCP的家族聚集性证据，遗传易感性可能在其病因学中起作用。对两个候选基因reg 1A基因和阳离子胰蛋白酶原基因的分析显示，受影响患者的DNA序列没有异常。已知复发性急性和慢性胰腺炎发生在一部分胰腺功能不全的囊性纤维化（CF）经典诊断患者中[2]。最近，与一般人群相比，在患有特发性慢性胰腺炎的白色高加索人患者中发现囊性纤维化跨膜调节因子（CFTR）基因突变频率更高（3，4）。这些患者中的大多数缺乏CF的其他经典特征，与先前在患有梗阻性无精子症的不育男性中的观察结果一致，其中许多人在一个或两个等位基因上携带CFTR基因突变（5）。目前的目标是
TO THE EDITOR: Tropical calcific pancreatitis (TCP), a form of chronic pancreatitis of unknown etiology, is unique to developing countries in tropical regions of the world (1). Patients with TCP present at a young age with severe abdominal pain and insulin-requiring diabetes. A history of alcohol abuse is absent, as are other commonly known etiological factors for chronic pancreatitis. In view of evidence of familial clustering of TCP, genetic susceptibility may play a role in its etiology. Analysis of two candidate genes, the reg 1A gene and the cationic trypsinogen gene, have revealed no sequence abnormalities in DNA from affected patients.Recurrent acute and chronic pancreatitis is known to occur in a subset of classically diagnosed patients with cystic fibrosis (CF) who have pancreatic sufficiency (2). More recently, a higher frequency of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene have been found in white Caucasian patients with idiopathic chronic pancreatitis, in comparison to the general population (3, 4). Most of these patients lacked other classical features of CF, consistent with previous observations in infertile men with obstructive azoospermia, many of whom carry CFTR gene mutations on one or both alleles (5). The aim of the present