How ARPKD is inherited
The mutation that causes ARPKD is known as an autosomal recessive mutation.
This means that a baby needs to receive 2 copies of the mutated gene to develop the condition: 1 from their mother and 1 from their father.
If a baby only receives 1 copy of the mutated gene from 1 of their parents, he or she will not develop ARPKD, but will carry the mutated gene.
It's estimated that 1 in 70 people in the UK is a carrier of the mutated PKHD1 gene.
If you're a carrier of the mutated gene and you conceive a baby with a partner who's also a carrier, there's a:
- 1 in 4 chance the baby will receive a pair of normal genes
- 1 in 2 chance the baby will receive 1 normal gene and 1 mutated gene, and become a carrier of the PKHD1 mutation
- 1 in 4 chance the baby will receive a pair of mutated genes and develop ARPKD
If you have a family history of ARPKD and you're considering trying for a baby, your GP may refer you to a geneticist or genetic counsellor to discuss the risks, benefits and limitations of testing for the condition.