Polycystic Kidney Disease, Autosomal Recessive (PKHD1)

Polycystic kidney disease is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene PKHD1. It is most prevalent in Afrikaners from South Africa, individuals of Ashkenazi Jewish descent, and Caucasians. Typically, the disease presents in the newborn period with enlarged kidneys causing renal disease and hypertension; at least half of these children will progress to end-stage renal disease by age 10. In severe cases, a deficiency of amniotic fluid, which is caused by the fetus defective kidneys, results in lung underdevelopment and respiratory insufficiency, which may cause death in the first year of life. Hepatobiliary disease is present in more than half of affected infants and results in significant morbidity. With modern treatments, including kidney transplants, most patients survive childhood. Severity of disease cannot be predicted based on the genotype.

For information about carrier frequency and residual risk, please see the residual risk table.