Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistulae: a case report and literature review

  • Chae Won, Lee (Department of Pediatrics, School of Medicine, Kyungpook National University) ;
  • Min Ji, Park (Department of Pediatrics, School of Medicine, Kyungpook National University) ;
  • Eun Joo, Lee (Department of Pediatrics, School of Medicine, Kyungpook National University) ;
  • Sangyoon, Lee (Department of Pediatrics, School of Medicine, Kyungpook National University) ;
  • Jinyoung, Park (Department of Pediatric Surgery, School of Medicine, Kyungpook National University) ;
  • Jun Nyung, Lee (Department of Urology, School of Medicine, Kyungpook National University) ;
  • So Mi, Lee (Department of Radiology, School of Medicine, Kyungpook National University) ;
  • Shin Young, Jeong (Department of Nuclear Medicine, School of Medicine, Kyungpook National University) ;
  • Min Hyun, Cho (Department of Pediatrics, School of Medicine, Kyungpook National University)
  • Received : 2022.10.26
  • Accepted : 2022.12.15
  • Published : 2022.12.31
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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 tractinfections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

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References

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