Familial IgA nephropathy in southeastern Kentucky
| Autor: | Ali G. Gharavi, Robert J. Wyatt, Catherine V. Barker, K.A. Lavigne, Bruce A. Julian, Jan Novak, Susan Y. Woodford, Zina Moldoveanu |
|---|---|
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Adolescent Biopsy Kentucky Pedigree chart Urinalysis urologic and male genital diseases Disease cluster Article Nephropathy Young Adult Prevalence Medicine Humans Genetic Predisposition to Disease Child Retrospective Studies business.industry Incidence (epidemiology) Incidence Glomerulonephritis IGA General Medicine Middle Aged medicine.disease Northern italy Pedigree Nephrology Female Glomerulonephritis iga business Demography Founder effect |
| Zdroj: | Scopus-Elsevier |
| Popis: | Background: Two decades ago, pedigrees of patients with IgA nephropathy (IgAN) from Pike County, KY, USA, provided evidence for a role of genetic factors in the pathogenesis of this disorder. Subsequently additional pedigrees were described for several communities from northern Italy. Recently, we found another cluster of patients in the Clay County, KY area, about 100 miles southwest of Pike County. Aim: The purpose of this study was to evaluate and expand the pedigrees of patients with IgAN from Clay County, KY to provide additional insight into the mechanisms of inheritance of IgAN and assess the possible influence of a founder effect on the prevalence of IgAN in the region. Method: Since 1980, most patients with IgAN and their relatives in eastern KY have provided personal genealogic data. These data were used to construct pedigrees that included the patients born in Clay County. Nine of 11 patients with IgAN born in Clay County, KY, USA were members of I or more of 5 pedigrees, each with 3 - 11 patients with IgAN. Conclusion: Our findings suggest the possibility of a low-penetrance ancestral mutation in the IgAN kindreds from Clay County. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|