Article
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2014
Büscher Rainer, Büscher Anja K, Weber Stefanie, Mohr Julia, Hegen Bianca, Vester Udo, Hoyer Peter F
Abstract excerpt
Autosomal recessive polycystic kidney disease (ARPKD), although less frequent than the dominant form, is a common, inherited ciliopathy of childhood that is caused by mutations in the PKHD1-gene on chromosome 6. The characteristic dilatation of the renal collecting ducts starts in utero and can present at any stage from infancy to adulthood. Renal insufficiency may already begin in utero and may lead to early...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.