Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies.

ABSTRACT: Congenital diaphragmatic hernia (CDH) is one of the most common and lethal congenital anomalies, and significant evidence is available in support of a genetic contribution to its etiology, including single-gene knockout mice associated with diaphragmatic defects, rare monogenetic disorders in humans, familial aggregation, and association of CDH with chromosomal abnormalities. Structural lung defects in the form of lung hypoplasia are almost invariably seen in patients with CDH and frequently in animal models of this condition. Better understanding of the mechanisms of pulmonary defects in CDH has the potential for creating targeted therapies, particularly in postnatal stages, when therapeutics can have maximum clinical impact on the surviving cohorts. Successful treatment of CDH is depende

SUBMITTER: Donahoe PK 

PROVIDER: S-EPMC5222980 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature