Balkan endemic nephropathy (BEN) is of great clinical importance in the restricted areas of Bulgaria, Rumania, Croatia, Serbia, Bosnia and Herzegovina.
So far, studies on the etiological factors for BEN have not discovered any single environmental causative agent of this puzzling disease.
These data reject the possibility of a purely environmental causation of BEN.
The pattern of BEN transmission in the risk families is not typical for single gene disorders.
Extensive epidemiological and genetic studies disclose characteristics of multifactorial (polygenic) inheritance of BEN.
The evidences of'familial tendency'variation of the risk for BEN depending on the number of sick parents and the degree of relatedness ; the development of BEN in individuals from at-risk families who were born in non-endemic areas ; the data that disease is not found in the gypsy population and the expressions of 3q25 cytogenetic marker suggest that the genetic factors play an important role as causative factors in BEN development.
The possible impact of environmental triggers on individuals genetically predisposed to BEN could be supposed by the following data : the cytogenetic results of the increased frequency of folate sensitive Fra sites, spontaneous or radiation-induced aberrations in several bands in BEN patients, the data from the detailed analysis of breaks in BEN patients and controls that generate structural chromosome aberrations ; the occurrence of BEN in immigrants. (...)
Mots-clés Pascal : Néphropathie endémique Balkans, Gène, Santé et environnement, Etiologie, Epidémiologie, Facteur risque, Génétique, Homme, Bulgarie, Europe, Appareil urinaire pathologie, Rein pathologie, Néphropathie interstitielle
Mots-clés Pascal anglais : Balkans endemic nephropathy, Gene, Health and environment, Etiology, Epidemiology, Risk factor, Genetics, Human, Bulgaria, Europe, Urinary system disease, Kidney disease, Interstitial nephritis
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0395305
Code Inist : 002B14A02. Création : 25/01/1999.