Childhood Kidney Diseases

  • 제26권2호
  • /
  • Pages.111-115
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  • 2022
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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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)
  • 투고 : 2022.10.26
  • 심사 : 2022.12.15
  • 발행 : 2022.12.31
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초록

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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참고문헌

  1. Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, et al. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009;46:598-606.
  2. Stewart DR, Kleefstra T. The chromosome 9q subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:383-9. https://doi.org/10.1002/ajmg.c.30148
  3. Byeon JH, Shin E, Kim GH, Lee K, Hong YS, Lee JW, et al. Application of array-based comparative genomic hybridization to pediatric neurologic diseases. Yonsei Med J 2014;55:30-6. https://doi.org/10.3349/ymj.2014.55.1.30
  4. Lee J, Park JE, Lee C, Kim AR, Kim BJ, Park WY, et al. Genomic analysis of Korean patient with microcephaly. Front Genet 2021;11:543528.
  5. Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, et al. Chromosomal microarray with clinical diagnostic utility in children with developmental delay or intellectual disability. Ann Lab Med 2018;38:473-80. https://doi.org/10.3343/alm.2018.38.5.473
  6. Sanchez S, Ricca R, Joyner B, Waldhausen JH. Vesicoureteral reflux and febrile urinary tract infections in anorectal malformations: a retrospective review. J Pediatr Surg 2014;49:91-4. https://doi.org/10.1016/j.jpedsurg.2013.09.031
  7. van der Steeg HJ, Botden SM, Sloots CE, van der Steeg AF, Broens PM, van Heurn LW, et al. Outcome in anorectal malformation type rectovesical fistula: a nationwide cohort study in The Netherlands. J Pediatr Surg 2016;51:1229-33.  https://doi.org/10.1016/j.jpedsurg.2016.02.002