J Korean Soc Pediatr Nephrol.
2012 Oct;16(2):109-114.
Medullary Sponge Kidney Detected in the Pediatric Age
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. chungwy@chol.com
- 2Department of Pediatrics, Kyungpook National University School of Medicine, Daegu, Korea.
- 3Department of Biological Science, Dong-A University, Busan, Korea.
- 4Department of Pediatrics, Seoul National University Hospital, Seoul, Korea.
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.
