[Phenotypic variability of cystic fibrosis: case report of twins with F508/F508 mutation].

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) is an autosomal recessive disease caused by a mutation in the CFTR gene, resulting in an alteration of a protein involved in sodium and chloride transport in the apical plasma membrane of epithelial cells in respiratory and intestinal tracts. It primarily presents respiratory compromise, affecting other systems in different ways. Meconium ileus is a gastrointestinal...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cystic Fibrosis
• Share to Cystic Fibrosis Transmembrane Conductance Regulator