EPS2.05 Genotype/phenotype correlation in cystic fibrosis children with mutation 3272-16T > A
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...
متن کاملMutation spectrum of Egyptian children with cystic fibrosis
OBJECTIVE To know the common CFTR mutations in the Egyptian patients with cystic fibrosis as it was previously thought to be uncommon disease in Egypt. METHODS This is a cross sectional study of 60 patients diagnosed as cystic fibrosis by sweat chloride testing. They were enrolled from the Allergy and Pulmonology Unit Children's Hospital Cairo University. They were screened for the presence o...
متن کاملCYSTIC FIBROSIS Airway remodelling in children with cystic fibrosis
Background: The relationship between airway structural changes and inflammation is unclear in early cystic fibrosis (CF) lung disease. A study was undertaken to determine changes in airway remodelling in children with CF compared with appropriate disease and healthy controls. Methods: Bronchoalveolar lavage and endobronchial biopsy were performed in a cross-sectional study of 43 children with C...
متن کاملMolecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran
Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
متن کاملIdentification of Dermatoglyphic Patterns in Parents of Children with Cystic Fibrosis
Background Dermatoglyphics could assist in the diagnosis of congenital abnormalities. The aim of this study was to identify the dermatoglyphic patterns (finger print pattern type, total ridge count of each finger, a-b ridge count, and articulotrochanteric distance [ATD angles]) in the parents of cystic fibrosis children. Materials and Methods We recruited 75 parents of children with cystic fibr...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2018
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(18)30242-x