What causes ARPKD?

Autosomal recessive polycystic kidney disease is caused by a mutation in chromosome 6 (PKHD1 gene). In recessive disorders such as ARPKD, the child must inherit a copy of the PKHD1 gene from each parent. Since the parents each have only one copy of the disease gene, they do not have the disease and are referred to as “carriers.” Parents carrying the mutated PKHD1 gene have a 25 percent chance that each child will have ARPKD. There is also a 50 percent chance each child will not have ARPKD but will be a carrier of the disease.

ARPKD inheritance

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Page last updated June 2021