The prevalence of gene mutation in Cystic Fibrosis (CF) in Children medical center Tehran from 1395-1400

AbstractIntroduction: Cystic fibrosis (CF) is a multisystem disorder caused by pathogenic mutations of the CFTR gene (CF transmembraneconductance regulator). Pulmonary disease remains the leading cause of morbidity and mortality in patients with CF. It is alsoresponsible for many cases of hyponatremic salt depletion, nasal polyposis, pansinusitis, rectal prolapse, pancreatitis, cholelithiasis,and non-autoimmune insulin-dependent hyperglycemia. CF occurs most frequently in white populations of northern Europe andAustralia/New Zealand. CF is inherited as an autosomal recessive trait. The CF gene codes for the CFTR protein, which is 1,480amino acids. CFTR is expressed largely in epithelial cells of airways, the gastrointestinal tract (including the pancreas and biliarysystem), the sweat glands, and the genitourinary system. CFTR is a member of the adenosine triphosphate–binding cassettesuperfamily of proteins. It functions as a chloride channel and has other regulatory functions that are perturbed variably by thedifferent mutations. More than 1,900 CFTR polymorphisms have been described, But Those with clinical manifestations may begrouped into 6 main classes based upon how they impact upon protein structure and function.Mutation class I-III are generallyconsidered to be severe mutations in that they lead to a complete or nearly complete absence of CFTR function, whereas class IV-VImutations are associated with some residual functional protein. The most prevalent mutation of CFTR is the deletion of a singlephenylalanine residue at amino acid 508 (F508del)Method:This is a Retrospective cross-sectional observational study that will study patients that have been admitted in ChildrenMedical Center from 1395-1400. We will assess all of the patient's files and extract useful correlated data. We will evaluate all data including, patient’s admission code. Statistically we will analyze the data by using SPSS software.