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Vol. 52. Núm. 3.
Páginas 285-288 (marzo 2000)
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Vol. 52. Núm. 3.
Páginas 285-288 (marzo 2000)
Acceso a texto completo
Variabilidad fenotípica del síndrome de Gitelman
Phenotype Heterogeneity Of Gitelman's Syndrome
Visitas
9416
A. Vidal Company*, R. Ruiz Cano, C. Gutiérrez Junquera, M. Lillo Lillo, I. Onsurbe Ramírez
Servicio de Pediatría. Hospital General de Albacete
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Presentamos una fratria afecta de síndrome de Gitelman en la que se pone de manifiesto su variabilidad fenotípica. Así mismo se exponen los criterios diagnósticos de la entidad, su fisiopatología y las diferencias genéticas y clínicas con el síndrome de Bartter

Palabras clave:
Síndrome de Gitelman
Hipopotasemia
Hipomagnesemia
Hipocalciuria

A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis eriterial of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated

El Texto completo está disponible en PDF
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Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome.
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