Research advances in the diagnosis and treatment of Pompe disease / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 588-593, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-690126
ABSTRACT
Pompe disease, also called type II glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) deficiency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients may have the manifestations of dyspnea and dyskinesia, with or without hypertrophic cardiomyopathy. GAA gene mutation has ethnic and regional differences, and new mutation sites are found with the advances in research. Gene analysis is the gold standard for the diagnosis of Pompe disease. Conventional methods, such as skin and muscle biopsies and dried blood spot test, have certain limitations for the diagnosis of this disease. In recent years, prenatal diagnosis and newborn screening play an important role in early diagnosis of this disease. Enzyme replacement therapy (ERT) has a satisfactory effect in the treatment of this disease, but it may lead to immune intolerance. New targeted gene therapy and modified ERT will be put into practice in the future. This article reviews the research advances in the diagnosis and treatment of Pompe disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Doença de Depósito de Glicogênio Tipo II
/
Diagnóstico
/
Alfa-Glucosidases
/
Reparo Gênico Alvo-Dirigido
/
Terapia de Reposição de Enzimas
/
Genética
/
Metabolismo
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Animais
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2018
Tipo de documento:
Artigo
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