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.
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Revised July 2022
