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

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...

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Published inChildhood kidney diseases pp. 111 - 115
Main Authors Chae Won Lee, Min Ji Park, Eun Joo Lee, Sang Yoon Lee, 박진영, Jun Nyung Lee, 이소미, Shin Young Jeong, 조민현
Format Journal Article
LanguageEnglish
Published 대한소아신장학회 01.12.2022
Subjects
소아과학
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ISSN2384-0242
2384-0250
DOI10.3339/ckd.22.039

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Summary: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. KCI Citation Count: 0
ISSN:2384-0242
2384-0250
DOI:10.3339/ckd.22.039