Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistula: a case report and literature review
- Author:
Chae Won LEE
1
;
Min Ji PARK
;
Eun Joo LEE
;
Sangyoon LEE
;
Jinyoung PARK
;
Jun Nyung LEE
;
So Mi LEE
;
Shin Young JEONG
;
Min Hyun CHO
Author Information
- Publication Type:3
- From:Childhood Kidney Diseases 2022;26(2):111-115
- CountryRepublic of Korea
- Language:English
- Abstract: Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tract infections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.
