ARPKD is a recessive disorder, meaning a child must inherit a copy of the PKHD1 gene from each parent to be diagnosed. To inherit two PKHD1 genes, both parents must be carriers. A carrier isn’t diagnosed with ARPKD, but they do carry the PKHD1 gene.
Genetic Implications
As illustrated in the diagram, parents carrying the mutated PKHD1 gene have a 25% chance that their child will have ARPKD. There is also a 50% chance each child will not have ARPKD but will be carriers of the disease.
If one parent is a carrier while the other parent has ARPKD, there is a 100% chance of their children being carriers and a 50% chance of their children having the disease.
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