The Importance of Genetic Study in Cystic Fibrosis
Journal Title: Archives of Pulmonology and Respiratory Care - Year 2017, Vol 3, Issue 3
Abstract
Cystic fibrosis (CF) is the most common and fatal autosomal recessive genetic disease in euro-descendents. It affects about 85,000 people worldwide [1]. It is characterized by multiple and systemic clinical manifestations that primarily affect exocrine sweat glands, lungs and pancreas while presenting great variability in its severity [2]. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR gene), which encodes the cystic fibrosis transmembrane regulatory protein (CFTR), located on chromosome 7 (locus 7q31), leading to the absence or loss of CFTR function which, under normal conditions, acts as a chloride channel [3].
Authors and Affiliations
Mota Laís Ribeiro, Ferreira de Lima Renata Lúcia Leite, Souza Edna Lúcia
Keywords
Related Articles
- EP ID EP341023
- DOI 10.17352/aprc.000029
- Views 70
- Downloads 0
Clinical features and the prognostic significance of ocular sarcoidosis
The main objective of this study was to evaluate the clinical features of ocular sarcoidosis. The second aim was to assess the influence of eye involvement on the prognostic outcome, extrapulmonary organ, and endobronchi...
Different Levels of Exhaled Nasal Nitric Oxide in Patients Diagnosed with Primary Dyskinesia
Background: Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormally beating cilia. In these patients levels of nasal nitric oxide (nNO) are lower than those observed in healthy subjects. Obje...
Coronary Artery Bypass Surgery in Left Main Disease with Idiopathic Artery Pulmonary Hypertension. Role of PGE Therapy
Idiopathic pulmonary hypertension (PAH) is a rare disease of unknown etiology that leads to the development of severe precapillary pulmonary hypertension [1-3], characterized by impaired regulation of both pulmonary hemo...
Clinical and Functional Outcomes of Sensitizer-Induced Asthma in Bakers and Cotton Workers after Removal from Exposure
Introduction: Sensitizer-induced occupational asthma (OA) has significant health and socioeconomic outcomes in affected subjects. Objective: To evaluate clinical and functional outcomes of sensitizer-induced OA in baker...
An atypical Klippel-Treanunay-Weber syndrome
A 44 year old female was referred for hyperbaric oxygen treatment of leg ulcers. The patient had port-wine stain, hand vitiligo, hypertrophy of one extremity, collateral abdominal, and varicose leg veins. Calcium was 12...