Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report

Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic...

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Bibliographic Details
Main Authors: Tina Zeraati, Mohammad Reza Abbaszadegan, Anoush Azarfar, Ehsan Ghayoor Karimiani, Malihe Lotfi, Abbas Ali Zeraati
Format: Article
Language:English
Published: SpringerOpen 2024-11-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Autosomal recessive polycystic kidney disease
PKHD1
Next generation sequencing
Online Access:https://doi.org/10.1186/s43042-024-00568-5
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https://doi.org/10.1186/s43042-024-00568-5

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