Skip to content
Norton & Elaine Sarnoff Center for Jewish Genetics Logo
  • Home
  • About Us
    • Board Members
    • Staff
  • Genetic Disorders
    • Types of Genetic Disorders
    • Jewish Genetic Disorder FAQs
    • Rabbinical Insights
  • Hereditary Cancer
    • BRCA Mutations
    • Lynch Syndrome
    • Assess Your Risk
    • Cancer FAQs
    • Cancer Resources
  • Resources
    • Family Health History
    • Teach Jewish Genetics
    • For Medical Professionals
    • Personal Stories
    • Blog
    • Events
  • Donate
  • Get Screened

Polycystic Kidney Disease (PKHD1-Related)

Polycystic kidney disease (PKHD1-related) is a condition that causes fluid filled sacs to develop on the kidneys.

Other symptoms include underdeveloped lungs, enlarged livers, and high blood pressure. Symptoms typically develop in infancy.  

This condition is caused by pathogenic (disease-causing) variants in the PKHD1 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.  

Other names for this condition include autosomal recessive polycystic kidney disease (ARPKD), infantile polycystic kidney disease, infantile polycystic kidney disease, type I, polycystic kidney and hepatic disease 1.  

Resources:  

National Library of Medicine

PKD Foundation

 Revised July 2022

Share this
Tweet this
Email this

The Norton & Elaine Sarnoff Center for Jewish Genetics is a supporting foundation of the Jewish United Fund, and is supported in part by the Michael Reese Health Trust.

30 S Wells
Chicago, IL 60606
312-357-4718
jewishgenetics@juf.org

About
  • About Us
  • Genetic Disorders
  • Hereditary Cancer
  • Donate
Resources
  • Medical Professionals
  • Teach Jewish Genetics
  • Events

©2023 Norton & Elaine Sarnoff Center for Jewish Genetics

Page load link
Go to Top