Polycystic kidney disease, autosomal recessive (ARPKD)
A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child's symptoms and the results of an Ultrasound scan .
If you have a family history of ARPKD and you're considering having a baby, you may be referred to a genetic counsellor to discuss your options in terms of the tests that can be carried out before and during pregnancy.
A genetic counsellor can also discuss the possibility of pre-implantation genetic diagnosis. This is where a couple who are both carriers of the ARPKD gene use in vitro fertilisation (IVF) to conceive and the embryos are tested for ARPKD before they're implanted into the womb.
In some cases, it may be possible to detect ARPKD during routine ultrasound scans. The kidneys of a baby with ARPKD may appear unusually large or bright on the scan.
Early signs of ARPKD are sometimes visible during the first routine ultrasound scan carried out at week 12 of pregnancy, although the condition isn't usually detected until the second routine scan at around 20 weeks.
If you have a known family history of ARPKD, it may be possible to be more certain about the diagnosis bytesting your and your partner's blood, to see whether you both carry the faulty gene that causes the condition (PKHD1). ARPKD can only be passed on to a child if both parents carry the faulty PKHD1 gene.
It's also possible to test the foetus for the genetic mutation, but this involves invasive procedures such as chorionic villus sampling or amniocentesis , which carry a risk of miscarriage .
Tests that can be used to helpdiagnose ARPKD after birth include:
Genetic testing for the faulty PKHD1 gene that causes ARPKD may also help support a diagnosis, but it isn't routine and is usually only carried out if doctors think there's a possibility that a child's symptoms could be caused by a condition other than ARPKD.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition, where the development of the kidneys and liver is abnormal.
Read about the symptoms of autosomal recessive polycystic kidney disease (ARPKD) that can occur before or soon after birth and during infancy and childhood.
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited condition, which means it's passed on to a child from their parents.
A diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is usually based on a child's symptoms and the results of an ultrasound scan.
There's currently no cure for autosomal recessive polycystic kidney disease (ARPKD). However, treatments are available to manage the condition's associated symptoms and any complications.