TITLE:
Hereditary Vesicoureteral Reflux: A Study of 66 Families
AUTHORS:
Zsuzsa I. Bartik, Agneta Nordenskjöld, Sofia Sjöström, Rune Sixt, Ulla Sillén
KEYWORDS:
Vesicoureteral Reflux, Heredity, Phenotype
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.5 No.4,
December
2,
2015
ABSTRACT: Purpose: We studied the inheritance pattern, clinical features and
outcome in children with vesicoureteral reflux (VUR). Characteristics of known
familial VUR cases were also compared with those of sporadic VUR. Material and Methods:
726 patients were treated for VUR between 1990-2004. The families were
contacted by letter inquiring if other members of the family were affected. The
phenotype of all cases (familial and non-familial) was characterized in terms
of presenting symptoms, reflux grade, recurrent urinary tract infections,
kidney damage, and the natural course of reflux. Results: The response rate was
79%. A total of 99 individuals (22%) reported relatives with VUR. Since some of
the 99 index cases belonged to the same family, the total number of families
was ultimately 66. The distribution of relatives with VUR was: 38 siblings, 20
parents (15 mothers), 19 cousins, 15 aunts/uncles and 12 grandparents. The
phenotype of VUR did not differ between familial and non-familial cases.
However, VUR among relatives was of milder grade than index and sporadic cases.
Conclusions: The proportion of hereditary reflux in our material was lower than
in other studies (22%). We found a strong overrepresentation of maternal
transmission of reflux. Severity of the disease did not differ between familial
and non-familial VUR.