Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).

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State: Public
Version: author
Serval ID
serval:BIB_644D5D8CD0D0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).
Journal
Nephrology, dialysis, transplantation
Author(s)
Yersin C., Bovet P., Wauters J.P., Schorderet D.F., Pescia G., Paccaud F.
ISSN
0931-0509
Publication state
Published
Issued date
1997
Peer-reviewed
Oui
Volume
12
Number
10
Pages
2069-74
Language
english
Abstract
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 65% of the population is of African descent and 30% of Caucasian or mixed descent. METHODS: 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 ultrasonographic 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 mumol/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
Adolescent, Adult, African Continental Ancestry Group, Age Distribution, Aged, Child, DNA Fragmentation, European Continental Ancestry Group, Female, Haplotypes, Heterozygote, Humans, Male, Middle Aged, Mortality, Pedigree, Polycystic Kidney, Autosomal Dominant, Prevalence, Seychelles
Pubmed
Web of science
Open Access
Yes
Create date
28/01/2008 13:58
Last modification date
20/08/2019 15:20
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