Cystic fibrosis gene mutations and gastrointestinal diseases
نویسندگان
چکیده
منابع مشابه
Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran
Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...
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The recently published paper by SANDFORD et al. [1] reviewing the genetic risk factors for chronic obstructive pulmonary disease is bright and revealing; nevertheless, incidental conclusions referring to the role of cystic fibrosis (CF) gene mutations as a predisposing condition for lung disease ("heterozygosity for ýF508 appears to predispose for disseminated bronchiectasis, but the involvemen...
متن کاملGastrointestinal Manifestations of Cystic Fibrosis.
Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobili...
متن کاملCystic Fibrosis: How do CFTR mutations cause cystic fibrosis?
Two major discoveries have transformed our understanding of cystic fibrosis, a genetic disease in which thick secretions accumulate in airways, digestive organs and sperm duct. The first was that cystic fibrosis involves a basic defect in epithelial ion transport [1], which is manifested primarily as the loss of chloride conductance [2]. The connection between the loss of epithelial chloride co...
متن کاملAnalysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran
Objective(s): More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2010
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2010.03.010