Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
- Title
- Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
- Author
- 박지권
- Keywords
- autosomal recessive polycystic kidney disease; mutation; PKHD1 gene; prenatal diagnosis
- Issue Date
- 2020-05
- Publisher
- Lippincott Williams & Wilkins Ltd.
- Citation
- Medicine, v. 99, no. 19, article no. e20113
- 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.
- URI
- https://journals.lww.com/md-journal/Fulltext/2020/05080/Fatal_outcome_of_autosomal_recessive_polycystic.63.aspxhttps://repository.hanyang.ac.kr/handle/20.500.11754/167124
- ISSN
- 0025-7974; 1536-5964
- DOI
- 10.1097/MD.0000000000020113
- Appears in Collections:
- COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
- Files in This Item:
There are no files associated with this item.
- Export
- RIS (EndNote)
- XLS (Excel)
- XML