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Artigo em Inglês | IMSEAR | ID: sea-94925

RESUMO

Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center failure following brain stem atrophy. Though there is no treatment to reverse the underlying mechanism of neurodegeneration, early diagnosis and adequate hormonal replacement could improve quality of life and survival.


Assuntos
Adolescente , Diabetes Mellitus Tipo 1/fisiopatologia , Feminino , Humanos , Mutação , Atrofia Óptica/fisiopatologia , Fatores de Risco , Síndrome de Wolfram/diagnóstico
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