Autosomal dominant polycystic kidney disease (ADPKD) is the commonest inherited renal disease. It has an incidence of 1:1000. It usually presents in adulthood with hypertension, loin pain, haematuria or infection. It does however sometimes present in childhood, particularly through family screening or as an incidental finding on ultrasound. More rarely it can present as early as the neonatal period with enlarged kidneys (which may be palpable), hypertension or renal failure.
Approximately 85-90% of patients with ADPKD have an abnormality on the short arm of chromosome 16 (ie, ADPKD type 1 [ADPKD1]). A second defect, termed ADPKD type 2 (ADPKD2), is responsible for 5-15% of ADPKD cases and is found on the long arm of chromosome 4. A third genotype may exist, but no genomic locus is assigned.
The disease is usually evident in the neonatal period. Severe renal disease causes oligohydramnios with enlarged, echogenic kidneys. This may lead to severe lung disease and a Potters-like syndrome.
The diagnosis is based on the family history and the presence of multiple cysts in both kidneys. Cysts in the liver as well as valvulopathies and arterio-venous aneurysms occur in affected individuals. ESRF tends to occur around the 5th to 6th decades; earlier in PKD1.
More information: http://emedicine.medscape.com/article/244907-overview