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Article

Clinical manifestations of autosomal recessive polycystic kidney disease

14 Feb 2015

Abstract excerpt

PURPOSE OF REVIEW: To describe the recent increase in the understanding of the clinical manifestation of autosomal recessive polycystic kidney disease (ARPKD), which is caused by mutations in the PKHD1 gene. The change in nomenclature reflects the genetic contribution to the understanding of pleiotropic disease manifestations. The term 'hepatorenal fibrocystic disorder' or 'ARPKD-congenital hepatic fibrosis...

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PMID: 25689455
DOI: 10.1097/mop.0000000000000196

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