P012 Clinical profile of 4 children with variant R117H in our cystic fibrosis clinic
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 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 کاملClinical profile of cystic fibrosis. Atypical presentation.
OBJECTIVE To describe the unusual presentation among patients with confirmed cystic fibrosis. METHODS A retrospective review was carried out on all children (n=90) with the diagnosis of classical cystic fibrosis who attended the Respiratory Pediatric Clinic at King Hussein Medical Center, Amman, Jordan from January 2002--December 2008. All children from one day old to 14 years of age were inc...
متن کاملInflammatory biomarker profile in children with cystic fibrosis: preliminary study.
The aim of this preliminary study was to determine specific proteins, related to inflammation process and nutritional status as well as to total antioxidant capacity, in children suffering from cystic fibrosis (CF). The study was performed on 17 nonhospitalized children (12 boys and 5 girls) with CF aged 3 months to 10 years, who were assisted at the Nutrition Service from Pedro de Elizalde Hos...
متن کاملClinical and mutation profile of children with cystic fibrosis in Jammu and Kashmir.
OBJECTIVE To study the clinical and mutation profiles of children with cystic fibrosis in Jammu and Kashmir. METHODS One hundred consecutive patients presenting with one or more phenotypic features suggestive of cystic fibrosis (CF) were screened by quantitative sweat chloride testing. For patients with positive/equivocal test result on two occasions, CFTR gene mutation analysis was done by p...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2020
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(20)30349-0