A CYSTIC-FIBROSIS MUTATION ASSOCIATED WITH MILD LUNG-DISEASE
A CYSTIC-FIBROSIS MUTATION ASSOCIATED WITH MILD LUNG-DISEASE
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DOI：
10.1056/nejm199507133330204
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发表时间：
1995-07-13
影响因子：
158.5
通讯作者：
HEIJERMAN, HGM
中科院分区：
文献类型：
--
作者：
GAN, KH;VEEZE, HJ;HEIJERMAN, HGM
背景资料。囊性纤维化是白人中最常见的致命性常染色体隐性遗传病。在荷兰囊性纤维化患者中，Delta F508是最常见的突变，A455E是7号染色体上囊性纤维化跨膜传导调节基因第二常见的突变。A455E与保留的胰腺功能和残留的跨膜氯离子分泌有关。我们调查了囊性纤维化患者是否也与不太严重的肺部疾病有关。共有33名A455E突变复合杂合子患者根据年龄和性别与Delta F508突变纯合子患者进行匹配。根据诊断时的年龄、肺功能值、假单胞菌定植的频率、胰腺功能充分性和糖尿病的发生率对这两组患者进行分析。A455E突变患者的囊性纤维化诊断年龄比Delta F508纯合子患者晚(诊断时的平均年龄，15.0岁对3.1岁；P
Background. Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, Delta F508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane conductance regulator gene on chromosome 7. A455E is associated with preserved pancreatic function and residual secretion of chloride across membranes. We investigated whether it is also associated with less severe pulmonary disease in patients with cystic fibrosis.Methods. A total of 33 patients with compound heterozygosity for the A455E mutation were matched according to age and sex with patients who were homozygous for the Delta F508 mutation. The pairs were analyzed with respect to the following outcome variables: age at diagnosis, pulmonary-function values, and the frequency of pseudomonas colonization, pancreatic sufficiency, and diabetes mellitus.Results. Cystic fibrosis was diagnosed at a later age in the patients with the A455E mutation than in the Delta F508 homozygotes (mean age at diagnosis, 15.0 vs. 3.1 years; P