Last update: 05/06/2006

Background to disease

OMIM #263200 (gene OMIM #606702)

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is one of the most common renal cystic diseases in children. The clinical spectrum of ARPKD is variable; most cases present in infancy, a milder form exists that presents later, with individuals surviving into adulthood and a severe neonatal form where the infant dies a few hours after birth following respiratory insufficiency.

Estimates of the disease incidence vary considerably from 1 in 6,000 to 1 in 40,000 live births; 1 in 20,000 is suggested to be a representative incidence.

The gene involved in ARPKD; PKHD1 was identified in March 2002 and is located at 6p21.1-p12. It is believed to be involved in tubulogenesis and/or maintenance of duct-lumen architecture in the kidney. It has 66 coding exons. To date a number of truncating and missense mutations have been identified throughout the gene, some of which are recurrent but most being private to families. Presently in Leeds, mutation detection is not offered but analysis using markers located at 6p21.1-p12 is available.

Prenatal diagnosis is available where informative linkage analysis has been carried out on the family (including an affected family member).

Laboratory Analysis

Contact scientist: David Cockburn

	Test	Target reporting time (working days)
1.	Linkage analysis to 6p21.1-p12	20 (family workup)

* Prenatal = 3 days to report

Note: The usefulness of linkage analysis is dependent on family structure and on the informativeness of the markers. As with all microsatellites these markers can provide information about maternal cell contamination in CVS.