Sinonasal manifestations of cystic fibrosis: A correlation between genotype and phenotype?
نویسندگان
چکیده
منابع مشابه
Sinonasal Manifestations in Cystic Fibrosis
Cystic fibrosis is a genetic disease, characterized by accumulation of thickened mucous secretions in exocrine glands. Although the major clinical manifestations of the disease are pancreatic and pulmonary disease, the majority of cystic fibrosis patients will develop sinonasal manifestations as well. This paper outlines the etiology, evaluation, and management of the nasal and sinus manifestat...
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Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the mai...
متن کاملGenotype-phenotype correlation for pulmonary function in cystic fibrosis.
BACKGROUND Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS A prospective cohort of adult patients wi...
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OBJECTIVE To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. METHODS A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion < 150 mg/day (low-p...
متن کاملCYSTIC FIBROSIS Genotype-phenotype correlation for pulmonary function in cystic fibrosis
Background: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). Methods: A prospective cohort of adult patients wi...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2014
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2013.10.011