Clinical feature, diagnosis and treatment of Wolfram syndrome / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 1195-1198, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-864194
ABSTRACT
Wolfram syndrome(WS) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, onset diabetes mellitus, optic atrophy and sensorineural hearing loss.The syndrome is mainly caused by mutations in the WFS1 gene, and another causative gene, CISD2 gene is responsible for Wolfram syndrome 2 with different phenotypes.The prognosis of WS is poor, 60% of patients die before the age of 35 years old.Currently, there are no effective treatments to delay or reverse the progression of WS, standardized clinical monitoring and supportive care can help alleviate the debilitating symptoms of patients and improve their quality of life.This article reviews the pathogenesis, clinical feature, diagnosis and new treatments of WS.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
Chinese Journal of Applied Clinical Pediatrics
Año:
2020
Tipo del documento:
Artículo
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