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2013, Número 3

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Rev Cub Gen 2013; 7 (3)


Síndrome Smith-Lemli-Opitz: consideraciones actuales para el asesoramiento genético

Martín GD, Aquino PAA

Idioma: Español
Referencias bibliográficas: 50
Paginas: 4-11
Archivo PDF: 641.11 Kb.


RESUMEN

El síndrome Smith-Lemli-Opitz es un error congénito del metabolismo del colesterol, causado por una deficiencia de la enzima 7-dehidrocolesterol reductasa. Tiene herencia autosómica recesiva y clínicamente se caracteriza por microcefalia, dismorfia facial, sindactilia 2-3 de los pies, anomalías genitales en los varones, retraso del desarrollo físico y mental, trastornos de conducta y múltiples malformaciones mayores y menores. El diagnóstico se basa en la demostración del incremento del 7-dehidrocolesterol en plasma u otros tejidos por cromatografía de gases/espectrometría de masa o de dos mutaciones patogénicas en el gen DHCR7. La suplementación con colesterol dietético o purificado es el tratamiento estándar. En poblaciones de origen caucásico la frecuencia estimada es de 1 en 10 000 a 1 en 70 000 nacimientos. En este trabajo se discuten los principales aspectos clínicos, bioquímicos, genéticos y terapéuticos necesarios para un adecuado asesoramiento genético.


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