J Korean Soc Pediatr Nephrol > Volume 16(2); 2012 > Article
J Korean Soc Pediatr Nephrol 2012;16(2): 109-114. doi: https://doi.org/10.3339/jkspn.2012.16.2.109
소아 연령에서 발견된 medullary sponge kidney
정우영, 조민현, 구영란, 임선희, 정해일
1인제의대 부산백병원 소아과학교실
2경북대학교 의학전문대학원 소아과학교실
3동아대학교 생명과학과
4동아대학교 생명과학과
5서울대학교 어린이병원 소아청소년과
Medullary Sponge Kidney Detected in the Pediatric Age
Woo Yeong Chung, Min Hyun Cho, Young-Ran Gu, Sun-Hee Leem, Hae Il Cheong
1Department of Pediatrics, College of Medicine, Inje University
2Kyungpook National University School of Medicine
3Department of Biological Science, Dong-A University
4Department of Biological Science, Dong-A University
5Seoul National University Hospital
Received: August 20, 2012;  Revised: September 9, 2012.  Accepted: September 16, 2012.
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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.
Key words: Medullary sponge kidney | Children | GDNF gene | ATP6V1B1 gene | ATP6V0A4 gene
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