Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistula: 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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Nephrology
2022-12-01
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| Series: | Childhood Kidney Diseases |
| Subjects: | |
| Online Access: | http://www.chikd.org/upload/ckd-22-039.pdf |
| 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. |
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| ISSN: | 2384-0242 2384-0250 |