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Article

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations.

Medicine - 1 May 2020

Jung Jiwon, Seo Go Hun, Kim Yoo-Mi, Han Young Mi, Park Ji Kwon, Kim Gu-Hwan, Lee Joo Hoon, Park Young Seo, Lee Byong Sop, Kim Ellen Ai-Rhan, Lee Pil-Ryang, Lee Beom Hee

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32384486
DOI: 10.1097/MD.0000000000020113
PMCID: PMC7440252

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