A boy presenting with familial short stature--diagnosis Gitelman syndrome.

Schoof, E; Marx, M; Doerr, H G

Schoof, E; Marx, M; Doerr, H G.

Afiliación

Schoof E; Division of Pediatric Endocrinology, Hospital for Children and Adolescents, University of Erlangen-Nuremberg, Germany.

J Pediatr Endocrinol Metab ; 12(6): 891-4, 1999.

Article en En | MEDLINE | ID: mdl-10614549

RESUMEN

Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia. We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine laboratory studies led to the diagnosis of Gitelman syndrome. If a baseline laboratory analysis had not been performed, this diagnosis would have been missed.

Asunto(s)

Estatura/genética; Discapacidades del Desarrollo/diagnóstico; Niño; Discapacidades del Desarrollo/genética; Humanos; Masculino; Síndrome

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Estatura / Discapacidades del Desarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 1999 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania

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