Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.

ABSTRACT: Cystic fibrosis transmembrane conductance regulator-related disorders encompass a disease spectrum from focal male reproductive tract involvement in congenital absence of the vas deferens to multiorgan involvement in classic cystic fibrosis. The reproductive, gastrointestinal, and exocrine manifestations of cystic fibrosis transmembrane conductance regulator deficiency are correlated with CFTR genotype, whereas the respiratory manifestations that are the main cause of morbidity and mortality in cystic fibrosis are less predictable. Molecular genetic testing of CFTR has led to new diagnostic strategies and will enable targeting of molecular therapies now in development. Older diagnostic methods that measure sweat chloride and nasal potential difference nonetheless remain important because o

SUBMITTER: Moskowitz SM 

PROVIDER: S-EPMC2810953 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature