title: Autosomal recessive polycystic kidney disease. Evidence for high frequency of the gene in the Afrikaans-speaking population.
abstract: Polycystic kidney disease was investigated in 28 families in which at least one member attended the paediatric nephrology clinic at a Johannesburg or Pretoria hospital. Twenty-five (89.3%) of the families had autosomal recessive polycystic kidney disease (ARPKD), and of these a significantly larger number than would have been expected (92%) were Afrikaans-speaking. There was a consanguineous marriage in the ancestry of 2 patients but 6 of the families (26%) had ancestors with one surname in common and 7 of the families (28%) had their origin in the western Transvaal. A point prevalence for ARPKD of 1:26,000 was estimated for the Afrikaans population (based on the age cohort 0 - 19 years) and the carrier rate for the gene was 1:83; on the basis of the live-birth rate for ARPKD of 1:11,000 the carrier rate is 1:53. These findings suggest that ARPKD may be unusually frequent in the Afrikaans-speaking population. A founder effect is probably responsible.
authors: Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.
authors: E H
authors: EH
authors: Lombard
authors: J G
authors: JG
authors: Kromberg
authors: P D
authors: PD
authors: Thomson
authors: L S
authors: LS
authors: Milner
authors: I
authors: I
authors: van Biljon
authors: T
authors: T
authors: Jenkins
mesh_terms: D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013019:South Africa; D044465:White People