Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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Medullary Sponge Kidney Detected in the Pediatric Age

소아 연령에서 발견된 medullary sponge kidney

  • 정우영 (인제의대 부산백병원 소아과학교실) ;
  • 조민현 (경북대학교 의학전문대학원 소아과학교실) ;
  • 구영란 (동아대학교 생명과학과) ;
  • 임선희 (동아대학교 생명과학과) ;
  • 정해일 (서울대학교 어린이병원 소아청소년과)
  • Received : 2012.08.20
  • Accepted : 2012.09.16
  • Published : 2012.10.31
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Abstract

Purpose: Medullary sponge kidney (MSK) is a rare congenital disease characterized by diffuse ectasia or dilatation of precalyceal collecting tubules. MSK incidence and prevalence in the general population is uncertain and only a few patients are reported especially in the pediatric age. There has been increasing reports of patients with MSK who have other malformative disorders. Also several case reports concerning about etiological association of some genes. Methods: Collaborative study through nation-wide survey was done to investigate the incidence and etiological association of some genes such as GDNF gene, ATP6V1B1, ATP6V0A4 gene in developing MSK in Korean children. Results: Four cases of MSK who have various other malformative disorders were collected. There are no mutations of GDNF gene, ATP6V1B1, ATP6V0A4 gene in all patients. Conclusion: MSK is one of the very rare diseases in pediatric age. The etiological association of GDNF gene, ATP6V1B1, ATP6V0A4 gene in developing MSK in Korean children is not proved.

Medullary sponge kidney disease (MSK)는 신장 수질 피라미드부위에서 야기되는 희귀질환으로 collecting precalyceal duct의 낭종성 확장(dilatation)과 ectasia을 특징으로 한다. MSK 환자의 발생 빈도에 대해서는 명확히 알려진 바가 없으며, 특히 소아 청소년 연령에서는 매우 드물게 발견된다. 연구자들은 국내 소아신장학회 회원들을 대상으로 MSK 환자의 전수 조사를 실시하였고 현재까지 문헌상으로 보고된 관련 유전자들인 GDNF, ATP6V1B1, ATP6V0A4 유전자에 대한 분석을 실시하였기에 이를 보고하는 바이다.

Keywords

References

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