[Epidemiological and molecular study of autosomal dominant polycystic kidney disease (ADPKD) in the province of Vicenza, Italy: possible founder effect?].
|
| Abstract |
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disorder, with a prevalence of 1:400 to 1:1000. ADPKD is genetically and clinically heterogeneous. In addition, significant intrafamilial renal disease variability is evident. The prevalence of ADPKD patients on renal replacement therapy in Italy has been reported to be 8.2%. In the dialysis population of Vicenza province (northeast Italy), in one area especially, ADPKD cases account for 13.4%. We hypothesize that this high frequency is related to a founder effect in this geographically isolated population. Since April 2007 we have studied the characteristics of ADPKD patients and the presence of haplotypes shared by several families. The clinical profile of patients in the Vicenza province is similar to that described in the literature but there is a high prevalence of ADPKD in several isolated areas. These areas are characterized by the presence of three distinct haplotypes, suggesting a strong lineage-specific gene.
|
|---|---|
| Authors | Valentina Corradi, Fiorella Gastaldon, Grazia Maria Virzi', Maurizio Clementi, Federico Nalesso, Dinna N Cruz, Massimo de Cal, Rossella Torregrossa, Claudio Ronco |
| Journal | Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia (G Ital Nefrol) 2010 Nov-Dec Vol. 27 Issue 6 Pg. 655-63 ISSN: 0393-5590 [Print] Italy |
| Vernacular Title | Studio epidemiologico e molecolare sulla malattia autosomica dominante del rene policistico (ADPKD) nella provincia di Vicenza: possibile effetto fondatore? |
| PMID | 21132648 (Publication Type: English Abstract, Journal Article) |
| Topics |
|
Join CureHunter, for free Research Interface BASIC access!
Realize the full power of the drug-disease research graph!