Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

@article{Bscher2013ClinicalMO,
  title={Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes},
  author={Rainer B{\"u}scher and Anja Katrin Buescher and Stefanie Weber and Julia Mohr and Bianca Hegen and Udo Vester and Peter Friedrich Hoyer},
  journal={Pediatric Nephrology},
  year={2013},
  volume={29},
  pages={1915-1925}
}
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 abortion or oligohydramnios and lung hypoplasia in the newborn. However, there are… CONTINUE READING