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KMID : 1040420220260020111
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Childhood Kidney Diseases
2022 Volume.26 No. 2 p.111 ~ p.115
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Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistula: a case report and literature review
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Lee Chae-Won
Park Min-Ji
Lee Eun-Joo
Lee Sang-Yoon
Park Jin-Young
Lee Jun-Nyung
Lee So-Mi
Jeong Shin-Young
Cho Min-Hyun
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Abstract
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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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KEYWORD
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Case reports, Kleefstra syndrome, Urinary tract infections, Vesico-ureteral reflux
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