Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis
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DOI：
10.1056/nejm199809033391002
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发表时间：
1998-09-03
影响因子：
158.5
通讯作者：
Jowell, PS
中科院分区：
文献类型：
--
作者：
Cohn, JA;Friedman, KJ;Jowell, PS
背景尚不清楚遗传因素是否会使患者易患特发性胰腺炎。在囊性纤维化患者中，囊性纤维化跨膜电导调节因子（CFTR）基因的突变通常会导致肺和胰腺功能不全，但很少引起胰腺炎。我们检查了未患有囊性纤维化肺部疾病的人中特发性胰腺炎是否与 CFTR 突变相关。方法我们研究了 27 名患者（诊断时的平均年龄为 36 岁），其中 22 名是女性，她们曾被转诊进行特发性胰腺炎评估。测试了 DNA 的 17 个 CFTR 突变以及 CFTR 基因内含子 8 中的 5T 等位基因。 5T 等位基因会降低功能性 CFTR 水平，并与男性遗传性不育症相关。具有两个异常 CFTR 等位基因的患者进一步评估是否存在未被识别的囊性纤维化相关肺部疾病，并在鼻粘膜中测量浴基线和 CFTR 介导的离子转运。 结果 10 名特发性慢性胰腺炎患者 (37%) 至少有一个异常 CFTR 等位基因。检测到 8 个 CFTR 突变（患病率，11:1；95% 置信区间，5 至 23；P
Background It is unknown whether genetic factors predispose patients to idiopathic pancreatitis, In patients with cystic fibrosis, mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene typically cause pulmonary and pancreatic insufficiency while rarely causing pancreatitis. We examined whether idiopathic pancreatitis is associated with CFTR mutations in persons who do not have lung disease of cystic fibrosis.Methods We studied 27 patients (mean age at diagnosis, 36 years), 22 of whom were female, who had been referred for an evaluation of idiopathic pancreatitis. DNA was tested for 17 CFTR mutations and for the 5T allele in intron 8 of the CFTR gene. The 5T allele reduces the level of functional CFTR and is associated with an inherited form of infertility in males. Patients with two abnormal CFTR alleles were further evaluated for unrecognized cystic fibrosis-related lung disease, and bath base-line and CFTR-mediated ion transport were measured in the nasal mucosa.Results Ten patients with idiopathic chronic pancreatitis (37 percent) had at least one abnormal CFTR allele. Eight CFTR mutations were detected (prevalence ratio, 11:1; 95 percent confidence interval, 5 to 23; P