Medullary Sponge Kidney Detected in the Pediatric Age
Journal of the Korean Society of Pediatric Nephrology
;
: 109-114, 2012.
Artículo
en Coreano
| WPRIM
| ID: wpr-205542
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Incidencia
/
Prevalencia
/
Enfermedades Raras
/
Dilatación
/
Dilatación Patológica
/
Factor Neurotrófico Derivado de la Línea Celular Glial
/
Riñón Esponjoso Medular
Tipo de estudio:
Estudio de incidencia
/
Estudio de prevalencia
/
Estudio pronóstico
Límite:
Niño
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Año:
2012
Tipo del documento:
Artículo
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