Familial vesicoureteral reflux and reflux related morbidity in relatives of index patients with high grade vesicoureteral reflux

Purpose: The familial nature of vesicoureteral reflux is well recognized. However, there is little information about the prevalence of vesicoureteral reflux and reflux related morbidity in the relatives of index patients with vesicoureteral reflux. Therefore, we determined the prevalence of vesicoureteral reflux and reflux related morbidity in first, second and third-degree relatives of index patients with high grade vesicoureteral reflux.

Materials and methods: Between 1998 and 2010 the parents of 259 index patients with grade III-V vesicoureteral reflux were asked permission to screen siblings younger than age 6 years for vesicoureteral reflux. Parents of index patients with affected siblings were contacted to obtain detailed information regarding vesicoureteral reflux, recurrent urinary tract infections, end stage renal disease, hypertension and nephrectomy among first, second and third-degree relatives.

Results: A total of 300 siblings of the 259 index patients were found to have vesicoureteral reflux on voiding cystourethrography. In terms of the other relatives of the 259 index patients 127 also had radiologically proven vesicoureteral reflux. Reflux related morbidity among the first, second and third-degree relatives included end stage renal disease in 21, nephrectomy in 12 and hypertension in 4. Of the 212 siblings who had dimercapto-succinic acid scans 49 (23.1%) showed evidence of renal scarring. In 73% of the relatives vesicoureteral reflux was seen on the mother's side.

Conclusions: This study, the first to our knowledge, provides important information regarding reflux related morbidity in a large cohort of familial vesicoureteral reflux in first, second and third-degree relatives of index patients. Our data clearly show that there is an increased risk of reflux related morbidity among the relatives of index patients with vesicoureteral reflux and this finding has implications for counseling.