Academic Journal
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
| العنوان: | Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations |
|---|---|
| المؤلفون: | 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 |
| المساهمون: | National research foundation Korea |
| المصدر: | Medicine ; volume 99, issue 19, page e20113 ; ISSN 0025-7974 1536-5964 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health) |
| سنة النشر: | 2020 |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1097/md.0000000000020113 |
| DOI: | 10.1097/MD.0000000000020113 |
| الاتاحة: | http://dx.doi.org/10.1097/md.0000000000020113 https://journals.lww.com/10.1097/MD.0000000000020113 |
| Rights: | http://creativecommons.org/licenses/by/4.0 |
| رقم الانضمام: | edsbas.24300AE8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1097/md.0000000000020113 |
|---|