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Síndrome de Alström - Overview

Definición:

Es una enfermedad hereditaria muy poco común que puede llevar a ceguera, sordera, diabetes y obesidad.

Causas, incidencia y factores de riesgo:

El síndrome de Alström es un trastorno hereditario autosómico recesivo, lo que significa que una persona debe heredar una copia de un gen defectuoso de ambos padres para resultar afectada. Este trastorno es extremadamente raro, pero es más común en países como Holanda y Suecia que en los Estados Unidos.

Se ha identificado el gen alterado ALMS 1, pero aún no se sabe en qué forma dicho gen causa la enfermedad.

  • Reviewed last on: 7/27/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Torres VE, Grantham JJ. Cystic diseases of the kidney. In: Brenner BM, ed. Brenner and Rector's The Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 41.

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