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Síndrome de Peutz-Jeghers - Overview

Nombres alternativos

SPJ

Definición:

Es un trastorno a menudo transmitido de padres a hijos (hereditario) en el cual la persona desarrolla pólipos intestinales y está en riesgo significativamente mayor de desarrollar ciertos cánceres.

Causas:

No se conoce la forma como muchas personas resultan afectadas por el síndrome de Peutz-Jeghers (SPJ). Sin embargo, los Institutos Nacionales de la Salud (National Institutes of Health ) estiman que afecta alrededor de 1 de cada 25,000 a 300,000 nacimientos.

Existen dos tipos de SPJ:

  • SPJ familiar que se debe a una mutación en un gen llamado STK11. El defecto genético se transmite de padres a hijos (hereditario) como un rasgo autosómico dominante. Eso significa que si uno de los padres tiene este tipo de SPJ, uno tiene una probabilidad de 50-50 de heredar el gen malo y padecer la enfermedad.
  • SPJ esporádico que no se transmite de padres a hijos y parece no tener relación con la mutación en el gen STK11.
  • Reviewed last on: 10/15/2009
  • Todd Eisner, MD, Private practice specializing in Gastroenterology, Boca Raton, FL, Clinical Instructor, Florida Atlantic University School of Medicine. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Goldman L, Ausiello D. Cecil Textbook of Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007.

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