Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.

Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is located at 7q31.2 and encodes 1480 amino acids. CFTR protein is responsible for regulating the transport of electrolytes and chloride across epithelial and mucus-producing cell membranes.

Inclusion Criteria:Children and adolescents aged 2 days - 18 year.patients clinically suspected or diagnosed with cystic fibrosispatients diagnosed with cystic fibrosis and attending or referred to the Pediatric pulmonology clinic at Sohag University Hospital.Exclusion Criteria:Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia