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Síndrome de Alstrom

Síndrome de Alström

Definición

Es una enfermedad muy poco común. Se transmite de padres a hijos (hereditaria). Puede llevar a que se presente ceguera, sordera, diabetes y obesidad.

Causas

El síndrome de Alström es un trastorno hereditario de manera autosómica recesiva. Esto significa que ambos padres tienen que transmitir una copia del gen defectuoso (ALMS1) para que la persona desarrolle la enfermedad.

Se desconoce la forma en que el gen defectuoso causa el trastorno.

Este trastorno es muy poco frecuente.

Síntomas

Los síntomas comunes de esta afección son:

Ceguera o deterioro visual severo durante la infancia
Parches oscuros en la piel (acantosis pigmentaria)
Sordera
Deficiencia en la función cardíaca (miocardiopatía) que puede llevar a que se presente insuficiencia cardíaca
Obesidad
Insuficiencia renal progresiva
Retardo en el crecimiento
Síntomas de diabetes tipo 2 o de comienzo en la infancia

Ocasionalmente, también se puede presentar lo siguiente:

Reflujo gastrointestinal
Hipotiroidismo
Disfunción hepática
Pene pequeño

Pruebas y exámenes

Un oftalmólogo examinará los ojos. El paciente puede presentar reducción en la visión.

Se pueden llevar a cabos exámenes para verificar:

Niveles de glucemia (para diagnosticar niveles altos de azúcar en sangre o hiperglucemia)
Audición
Función cardíaca
Función tiroidea
Niveles de triglicéridos

Tratamiento

No existe ningún tratamiento específico para este síndrome. El tratamiento para síntomas puede abarcar:

Medicamentos para la diabetes
Audífonos
Medicamentos para el corazón
Reemplazo con hormona tiroidea

Grupos de apoyo

Alström Syndrome International -- www.alstrom.org

Expectativas (pronóstico)

Es probable que se presente lo siguiente:

Sordera
Ceguera permanentes
Diabetes tipo 2

La insuficiencia renal y hepática pueden empeorar.

Posibles complicaciones

Las complicaciones que se pueden presentar son:

Por la diabetes
Arteriopatía coronaria (por la diabetes y el colesterol alto)
Fatiga y dificultad para respirar (si no se trata la función cardíaca deficiente)

Cuándo contactar a un profesional médico

Contacte a su proveedor de atención médica si usted o su hijo tienen síntomas de diabetes. Los síntomas comunes de diabetes incrementan la sed y la micción. Igualmente, busque atención médica oportuna si cree que su hijo no puede ver ni escuchar normalmente.

Referencias

Farooqi IS, O'Rahilly S. Genetic syndromes associated with obesity. In: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Adult and Pediatric. 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Hereditary chorioretinal dystrophies. In: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. The Retinal Atlas. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 2.

Torres VE, Harris PC. Cystic diseases of the kidney. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 45.

Programe una cita

Actualizado : 7/28/2022

Versión en inglés revisada por : Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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