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SÃndrome de Crigler-Najjar
Nombres alternativos:
Deficiencia de glucuronil transferasa (Crigler-Najjar tipo I); SÃndrome de Arias (Crigler-Najjar tipo II)
SÃntomas:
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Antecedentes familiares del sÃndrome de Crigler-Najjar
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Piel amarilla (ictericia) y color amarillo de la esclerótica de los ojos (ictericia) que comienza en el segundo o tercer dÃa de vida y empeora de forma progresiva
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Ictericia que persiste más allá de la segunda semana de vida sin causa obvia
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Confusión
y cambios en el pensamiento (producto de la toxicidad del cerebro por bilirrubina)
Signos y exámenes:
Los exámenes utilizados para evaluar la función hepática son:
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Bilirrubina no conjugada (libre) en la sangre (podrÃa estar altamente elevada)
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Nivel de bilirrubina total (serÃa alto)
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Bilirrubina conjugada (directa) que estarÃa entre baja y ausente
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Biopsia hepática
,
análisis de enzimas
para verificar la baja actividad o la ausencia de actividad de la
glucuroniltransferasa
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Antecedentes familiares del sÃndrome de Crigler-Najjar
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Fecha de revisión: 8/11/2006
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Versión en inglés revisada por: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
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Traducción y localización realizada por: DrTango, Inc.
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