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SÍNDROME DE MARFAN
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Características , clínica , manifestaciones principales , diagnóstico y tratamiento acerca de el síndrome de Marfan , en forma resumida
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TESTBANK FOR NELSON TEXTBOOK OF PEDIATRICS 20TH EDITION
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TESTBANK FOR NELSON TEXTBOOK OF PEDIATRICS 20TH EDITION
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SÍNDROME DEMARFAN.
D R A . A R A C E LY L A Z O
, GENERALIDADES
• El síndrome de Marfan (SMF) es un trastorno hereditario y sistém
del tejido conectivo.
• Causado por mutaciones en el gen que codifica la proteína fibrilin
de la matriz extracelular.
• En 1896 se describe el primer caso por el pediatra francés llam
Bernard Antoine Marfan, profesor de la Universidad de París.
• Se asocia principalmente a patología esquelética, cardiovascula
ocular.
, EPIDEMIOLOGÍA
• La incidencia es de 1 de cada 10.000 nacidos vivo
aproximadamente una cuarta parte de los casos son esporádic
• El trastorno muestra una herencia autosómica dominante.
• No hay preferencia racial o de sexo.
, PATOGENIA
• El SMF fue considerado tradicionalmente el resultado
de una deficiencia estructural de los tejidos conectivos.
• Se pensó inicialmente que había una alteración primaria
de la deposición de fibras elásticas de los tejidos.
• Los afectados muestran una disminución de la elastina,
junto con la fragmentación de las fibras elásticas.
• En 1986 se identificó la fibrilina 1 como el principal
componente de la matriz extracelular
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