Abstract

Information of 82 children in Finland, treated during the years 1974 to 1983 for polycystic kidney disease, was collected retrospectively. The occurrence was of the order of 1:8000 births. Fifty-one of the children had early lethal disease and 31 survived for over 28 days. These children came from 69 families. They were divided by family studies into three groups: autosomal dominant polycystic kidney disease (DPKD) in 11 families, autosomal recessive polycystic kidney disease (RPKD) in 14 families, and sporadic cases in 44 families. In three of the DPKD families there were two or more sibs with DPKD which manifested neonatally. The majority of the grandparents of the children with RPKD and sporadic polycystic kidney disease were born in the same sparsely populated areas in northern, central, and eastern Finland, which suggests that most of the sporadic cases are also actually RPKD. The purpose of this study was to find patients with polycystic kidney disease manifesting in childhood and to categorise them using genetic criteria. The observed series of cases genetically classified as DPKD and RPKD will serve as a basis for the further aim of defining clinical criteria for the differential diagnosis of these two entities.