Ontology highlight
ABSTRACT:
SUBMITTER: Jung J
PROVIDER: S-EPMC7440252 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Jung Jiwon J Seo Go Hun GH Kim Yoo-Mi YM Han Young Mi YM Park Ji Kwon JK Kim Gu-Hwan GH Lee Joo Hoon JH Park Young Seo YS Lee Byong Sop BS Kim Ellen Ai-Rhan EA Lee Pil-Ryang PR Lee Beom Hee BH
Medicine 20200501 19
Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity. The aim of this study was to describe the most severe form of ARPKD, with a fatal clinical course, and its association with mutations in polycystic kidney and hepatic disease 1 (fibrocystin) (PKHD1). Clinical, imaging, pathological, and molecular genetic findings were reviewed in patients prenatally affected with ARP ...[more]