A retrospective analysis of 6 children with Duchenne muscular dystrophy / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 405-409, 2017.
Article
en Zh
| WPRIM
| ID: wpr-351334
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features of 6 children with Duchenne muscular dystrophy (DMD) and review related literature, and to provide a basis for early diagnosis and effective treatment of this disease.</p><p><b>METHODS</b>A retrospective analysis was performed on the clinical data of 6 children with DMD who were admitted to the First Affiliated Hospital of Nanjing Medical University from January 2010 to October 2015.</p><p><b>RESULTS</b>All the 6 cases were boys without a family history of DMD, and the age of diagnosis of DMD was 1.2-11.5 years. All patients had insidious onset and increases in alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, α-hydroxybutyrate dehydrogenase, creatine kinase (CK), and creatine kinase-MB, particularly CK, which was 3.3-107.2 times the normal level. Their gene detection results all showed DMD gene mutation. The gene detection results of two children's mothers showed that they carried the same mutant gene. The muscle biopsy in one case showed that the pathological changes confirmed the diagnosis of DMD. The level of CK in one case declined by 77.0% 5 days after umbilical cord blood mesenchymal stem cell transplantation.</p><p><b>CONCLUSIONS</b>For boys with abnormal serum enzyme levels and motor function, DMD should be highly suspected. It should be confirmed by CK and DMD gene detection as soon as possible. And the progression of the disease could be delayed by early intervention for protecting the remaining normal muscle fibers.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Terapéutica
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Estudios Retrospectivos
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Distrofina
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Creatina Quinasa
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Distrofia Muscular de Duchenne
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Trasplante de Células Madre de Sangre del Cordón Umbilical
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Genética
Tipo de estudio:
Observational_studies
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Screening_studies
Límite:
Child
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Child, preschool
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2017
Tipo del documento:
Article