Medullary Sponge Kidney Detected in the Pediatric Age.
- Author:
Woo Yeong CHUNG
1
;
Min Hyun CHO
;
Young Ran GU
;
Sun Hee LEEM
;
Hae Il CHEONG
Author Information
1. Department of Pediatrics, College of Medicine, Inje University, Busan, Korea. chungwy@chol.com
- Publication Type:Original Article
- Keywords:
Medullary sponge kidney;
Children;
GDNF gene;
ATP6V1B1 gene;
ATP6V0A4 gene
- MeSH:
Child;
Dilatation;
Dilatation, Pathologic;
Glial Cell Line-Derived Neurotrophic Factor;
Humans;
Incidence;
Medullary Sponge Kidney;
Prevalence;
Rare Diseases
- From:Journal of the Korean Society of Pediatric Nephrology
2012;16(2):109-114
- CountryRepublic of Korea
- Language:Korean
-
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.
