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Síndrome de Hunter - Symptom

Nombres alternativos

Mucopolisacaridosis tipo II; Deficiencia de iduronato sulfatasa

Síntomas:

Forma juvenil (forma severa y de aparición temprana):

Comportamiento agresivo
Hiperactividad
Deterioro mental con el tiempo
Retardo mental severo
Espasticidad

Forma tardía (leve):

Deficiencia mental leve o ninguna

Ambas formas:

Síndrome del túnel carpiano
Rasgos faciales toscos
Sordera (empeora con el tiempo)
Aumento del cabello (hipertricosis)
Rigidez de las articulaciones
Cabeza grande (macrocefalia)

Pruebas y exámenes:

Los signos del trastorno abarcan:

Retina anormal (parte posterior del ojo)
Disminución de la actividad de la enzima iduronato sulfatasa en el suero o en las células
Soplo cardíaco y filtración en las válvulas cardíacas
Agrandamiento del hígado (hepatomegalia)
Agrandamiento del bazo (esplenomegalia)
Hernia inguinal
Contracturas de las articulaciones
Espasticidad

Los exámenes pueden abarcar:

Estudio enzimático
Pruebas genéticas para el cambio (mutación) en el gen de la iduronato sulfatasa
Examen de orina para el heparansulfato y el dermatansulfato

Reviewed last on: 5/16/2011
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006 Aug;8(8):465-73.

Wraith JE. Mucopolysaccharidoses and oligosaccharidoses. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. New York, NY: Springer;2006:chap 39.

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