Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistulae: a case report and literature review

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초록

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appear-ance. 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. © 2022 Korean Society of Pediatric Nephrology.

키워드

Case reports; Kleefstra syndrome; Urinary tract infections; Vesico-ureteral reflux
제목
Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistulae: a case report and literature review
저자
Lee, Chae-won; Park, Min-ji; Lee, Eun-joo; Lee, Sangyoon; Park, Jinyoung; Lee, Jun-nyung; Lee, So-mi; Jeong, Shin-young; Cho, Minhyun
DOI
10.3339/ckd.22.039
발행일
2022
유형
Article
저널명
Childhood Kidney Diseases
권
26
호
2
페이지
111 ~ 115