Genetic Predisposition to Balkan Endemic Nephropathy

Abstract

This study is the first cytogenetic investigation of healthy relatives of patients with Balkan endemic nephropathy (BEN) who were born in nonendemic areas. Characteristics of BEN No. 3 chromosomal anomalies (extremely high frequencies of 3q25 homologue discordance - 68.5 +/- (SD) 5.03% vs. 6.65 +/- 0.95% in controls, p < 0.001; chromosome breaks at 3q25 band - 0.79 +/- 0.25% vs. 0.01% in controls, p < 0.001; structural aberrations affecting 3q25 band), very high frequency of acquired chromosomal aberrations (5.74 +/- 0.64% vs. 1.72 +/- 0.3% in controls) and a family history with 1 or 2 BEN parents were identified in 5 relatives. It is proposed that they are at high risk for developing the disease and that a genetic mechanism might be involved in the etiology of BEN.