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http://dx.doi.org/10.3339/jkspn.2012.16.2.109

Medullary Sponge Kidney Detected in the Pediatric Age  

Chung, Woo Yeong (Department of Pediatrics, College of Medicine, Inje University)
Cho, Min Hyun (Kyungpook National University School of Medicine)
Gu, Young-Ran (Department of Biological Science, Dong-A University)
Leem, Sun-Hee (Department of Biological Science, Dong-A University)
Cheong, Hae Il (Seoul National University Hospital)
Publication Information
Childhood Kidney Diseases / v.16, no.2, 2012 , pp. 109-114 More about this Journal
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.
Keywords
Medullary sponge kidney; Children; GDNF gene; ATP6V1B1 gene; ATP6V0A4 gene;
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