Clinical features: Most individuals with autosomal recessive polycystic kidney disease (ARPKD) present in the neonatal period with enlarged echogenic kidneys and in half of these liver abnormalities (mainly cysts) are also present. Pulmonary hypoplasia, resulting from oligohydramnios, occurs in the majority of affected infants and is a major cause of morbidity and mortality in the newborn period. Indeed up to one third of affected individuals die, usually from respiratory failure in the neonatal period. Of those that survive, 50% will progress to end-stage renal disease by 10 years of age. With modern neonatal intensive care and renal transplantation, survival is improving but ARPKD remains an extremely serious condition. The diagnosis of ARPKD is based on clinical findings and the absence of renal cysts in the parents, which helps to distinguish it from autosomal dominant polycystic kidney disease (ADPKD).
Incidence: Approximately 1 in 20,000 live births, with a carrier frequency of 1 in 70.
Inheritance : Autosomal recessive.
Gene: Polycystic kidney and hepatic disease 1 gene (PKHD1, fibrocystin) on chromosome 6. More than 300 mutations have been described. DNA testing by linkage analysis or direct mutation detection is available but very complicated due to the large size of the gene.
Prenatal diagnosis: Preferably by DNA methods, either by direct mutation detection or linkage analysis. Prenatal ultrasound examination is valuable, although at the time of writing (January 2006) there are no systematic data available on its sensitivity and specificity in the diagnosis of ARPKD in pregnancies at 25% risk. Please refer to your local clinical genetics service prior to a pregnancy. This ensures family members are offered appropriate advice and investigations, to confirm whether or not prenatal diagnosis is possible by DNA methods.
Carrier Testing: Possible if mutation identified in affected individual.
The PKD Charity (Polycystic Kidney Disease)
Tel: 0300 111 1234
If you would like to access specialist information on autosomal recessive polycystic kidney disease please go to:-
Genetests - Autosomal recessive polycystic kidney disease