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


ABSTRACT: 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 ARPKD and their families.Five unrelated Korean families, including 9 patients, were analyzed. Among the 9 patients, 2 fetuses died in utero, 6 patients did not survive longer than a few days, and 1 patient survived for 5 months with ventilator support and renal replacement therapy. A total of 6 truncating mutations (all nonsense) and 4 missense mutations were detected in a compound heterozygous state, including 4 novel mutations. The most severe phenotypes were shared among all affected patients in each family, irrespective of mutation types.Our data suggest a strong genotype-phenotype relationship in ARPKD, with minimal intra-familial heterogeneity. These findings are important for informing future reproductive planning in affected families.

SUBMITTER: Jung J 

PROVIDER: S-EPMC7440252 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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

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]

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