Nephrology Dialysis Transplantation, Vol 12, Issue 10 2069-2074, Copyright © 1997 by Oxford University Press
C Yersin, P Bovet, J Wauters, D Schorderet, G Pescia and F Paccaud
Background: As little such data is available in
African populations, we investigated the prevalence of ADPKD and the impact
of the disease in the Seychelles islands, where approximately 75% of the
population is of African descent and 30% of Caucasian or mixed descent.
Method: Prevalent cases were identified over a 3-year
period by requesting all the doctors in the country (most of them are
employed within a national health system) to refer all presumed or
confirmed cases and by systematically examining the family members of all
confirmed cases. The diagnosis was based on standard criteria including
ultrasonograhic findings and family history. Results:
Forty-two cases were identified in this population of 74 331 inhabitants, a
total prevalence (per 100 000 total population) of 57 (95% CI, 41-76). All
but one of the cases were of Caucasian descent so that the prevalence rates
of the disease in the populations of Black and Caucasian descents were
respectively 2 (0-11) and 184 (132-249). The prevalence rates of the
gene(s) carriers were estimated to be 75 (45-117) in the total population
respectively 6 (0-33) and 236 (140-372) in the Black and Caucasian
populations. Haplotype analysis in 58 cases from three families showed a
common DNA fragment in all affected individuals. Cases had significantly
higher blood pressure compared to the general population and 21% had serum
creatinine higher than 120 &mgr;mol/l. Among the established pedigrees,
mean age of death between 1960 and 1995 (haemodialysis was introduced in
1992) was younger in subjects with than those without ADPKD (50.5 vs 67.7
years; P<0.001). Conclusions: In the
Seychelles, ADPKD clusters in the Caucasian population (possibly a founder
effect), is rare in individuals of black descent, and is associated with
substantial clinical and survival impact. Keywords:
Africa; autosomal dominant polycystic kidney disease; developing countries;
DNA analysis; epidemiology; hypertension; renal failure
ORIGINAL ARTICLES
Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean)
Department of Internal Medicine, Victoria Hospital; Unit for Prevention and Control of Cardiovascular Disease, Ministry of Health, Seychelles; Institute of Social and Preventive Medicine, University of Lausanne, 17, rue du Bugnon, CH-1005 Lausanne, Switzerland; Division of Nephrology, and Division of Medical Genetics and Unit of Molecular Genetics, University Hospital, Lausanne, Switzerland; Corresponding author
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