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 in | Childhood kidney diseases pp. 111 - 115 |
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| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
대한소아신장학회
01.12.2022
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2384-0242 2384-0250 |
| DOI | 10.3339/ckd.22.039 |
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| 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. KCI Citation Count: 0 |
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| AbstractList | 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 |
| Author | 조민현 Eun Joo Lee Min Ji Park 이소미 Jun Nyung Lee Sang Yoon Lee Shin Young Jeong 박진영 Chae Won Lee |
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| Title | Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistulae: a case report and literature review |
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