ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2017
[A retrospective analysis of 6 children with Duchenne muscular dystrophy].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 3 citations in OpenAlex.
- Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.Journal of medical genetics · 2025Article
- [Application of next-generation sequencing in the molecular diagnosis of Duchenne muscular dystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
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7 authors at 1 institution in 1 country.
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Abstract
objectiveTo 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.
methodsA 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.
resultsAll 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.
conclusionsFor 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.
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28407826PMC7389655W2613440496What OpenQuestion holds
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