This study is the first cytogenetic investigation of healthy relatives
of patients with Balkan endemic nephropathy (BEN) who were born in no
nendemic areas. Characteristics of BEN No. 3 chromosomal anomalies (ex
tremely 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; structur
al aberrations affecting 3q25 band), very high frequency of acquired c
hromosomal 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 rela
tives. It is proposed that they are at high risk for developing the di
sease and that a genetic mechanism might be involved in the etiology o
f BEN.