Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8

被引：32

作者：

Peckham, D. ^{[1
]}

Conway, S. P.

Morton, A.

Jones, A.

Webb, K.

机构：

[1] Seacroft Hosp, Adult CF Unit, Leeds, W Yorkshire, England

[2] Wythenshawe Hosp, Adult CF Unit, Manchester M23 9LT, Lancs, England

来源：

JOURNAL OF CYSTIC FIBROSIS | 2006年 / 5卷 / 01期

关键词：

cystic fibrosis; late diagnosis; R117H; 7T; bronchiectasis;

D O I：

10.1016/j.jcf.2005.09.009

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

We report late diagnoses of cystic fibrosis (CF) in two men aged 61 and 65 years. At the time of presentation, both patients had significant pulmonary disease. In each case two CFTR gene mutations were identified, including R117H on a background of a poly T genotype of 7T/ 9T. Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease. (C) 2005 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：63 / 65

页数：3

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