Muscle & nerve · 2011
Sodium and chloride channelopathies with myositis: coincidence or connection?
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Matthews Emma, Miller James A L, MacLeod Malcolm R, Ironside James, Ambler Gareth, Labrum Robin, Sud Richa, Holton Janice L, Hanna Michael G
Аннотация
INTRODUCTION: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown.
METHODS: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and additional myositis. Direct DNA sequencing was performed.
RESULTS: Pathogenic mutations were identified in each case. Biopsies demonstrated inflammatory infiltrates.
CONCLUSIONS: Clinicians should consider muscle biopsy in channelopathy patients with severe myalgia and/or subacute weakness and accompanying elevated creatine kinase. Chance association of myositis and channelopathy is statistically unlikely. An alternative hypothesis suggests that inflammatory insults could contribute to myopathy in some patients.
METHODS: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and additional myositis. Direct DNA sequencing was performed.
RESULTS: Pathogenic mutations were identified in each case. Biopsies demonstrated inflammatory infiltrates.
CONCLUSIONS: Clinicians should consider muscle biopsy in channelopathy patients with severe myalgia and/or subacute weakness and accompanying elevated creatine kinase. Chance association of myositis and channelopathy is statistically unlikely. An alternative hypothesis suggests that inflammatory insults could contribute to myopathy in some patients.