Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case of Neurofibromatosis Combined with Ectopic Kidney

이소성 신장을 동반한 신경섬유종 1례

  • Yang, Eu Gene (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine) ;
  • Kim, Bo Hyun (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine) ;
  • Lee, Joon Soo (Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine)
  • 양유진 (연세대학교 의과대학 소아과학교실, 연세대학교 장애아동 연구소) ;
  • 김보현 (연세대학교 의과대학 소아과학교실, 연세대학교 장애아동 연구소) ;
  • 이준수 (연세대학교 의과대학 소아과학교실, 연세대학교 장애아동 연구소)
  • Received : 2004.09.20
  • Accepted : 2004.12.13
  • Published : 2005.04.15
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Abstract

Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.

본 저자들은 전형적인 신경섬유종증 환자에서 이소성 신장을 동반한 환자를 최초로 경험하였기에 문헌고찰과 함께 보고한다.

Keywords

References

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