Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 박지권 | - |
dc.date.accessioned | 2022-01-14T01:45:24Z | - |
dc.date.available | 2022-01-14T01:45:24Z | - |
dc.date.issued | 2020-05 | - |
dc.identifier.citation | Medicine, v. 99, no. 19, article no. e20113 | en_US |
dc.identifier.issn | 0025-7974 | - |
dc.identifier.issn | 1536-5964 | - |
dc.identifier.uri | https://journals.lww.com/md-journal/Fulltext/2020/05080/Fatal_outcome_of_autosomal_recessive_polycystic.63.aspx | - |
dc.identifier.uri | https://repository.hanyang.ac.kr/handle/20.500.11754/167124 | - |
dc.description.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. | en_US |
dc.description.sponsorship | This work was supported by research funds from the National Research Foundation of Korea (NRF-2018M3A9H1078335). | en_US |
dc.language.iso | en | en_US |
dc.publisher | Lippincott Williams & Wilkins Ltd. | en_US |
dc.subject | autosomal recessive polycystic kidney disease | en_US |
dc.subject | mutation | en_US |
dc.subject | PKHD1 gene | en_US |
dc.subject | prenatal diagnosis | en_US |
dc.title | Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1097/MD.0000000000020113 | - |
dc.relation.journal | Medicine (United States) | - |
dc.contributor.googleauthor | Jung, Jiwon | - |
dc.contributor.googleauthor | Seo, Go Hun | - |
dc.contributor.googleauthor | Kim, Yoo-Mi | - |
dc.contributor.googleauthor | Han, Young Mi | - |
dc.contributor.googleauthor | Park, Ji Kwon | - |
dc.contributor.googleauthor | Kim, Gu-Hwan | - |
dc.contributor.googleauthor | Lee, Joo Hoon | - |
dc.contributor.googleauthor | Park, Young Seo | - |
dc.contributor.googleauthor | Lee, Byong Sop | - |
dc.contributor.googleauthor | Kim, Ellen Ai-Rhan | - |
dc.relation.code | 2020017127 | - |
dc.sector.campus | S | - |
dc.sector.daehak | COLLEGE OF MEDICINE[S] | - |
dc.sector.department | DEPARTMENT OF MEDICINE | - |
dc.identifier.pid | obgyparkjk | - |
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