Distrofia muscular congênita e deficiência de merosina

Congenital muscular dystrophy and merosin deficiency

Distrofia muscular congênita e deficiência de merosina

Congenital muscular dystrophy and merosin deficiency

Lineu Cesar Werneck^I; Rosana Hermínia Scola^II; Fábio Massaiti Iwamoto^III

^IServiço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Professor Titular

^IIServiço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Professora Assistente

^IIIServiço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Estudante de Medicina, Bolsista de Iniciação Científica (PIBIC/CNPq)

RESUMO

Uma proporção variável de pacientes com distrofia muscular congênita (DMC) da forma clássica ou ocidental apresenta deficiência da cadeia α₂ da merosina, uma proteína da matriz extracelular. Foi realizado estudo das características clínicas, laboratoriais e histopatológicas de 18 pacientes com DMC, relacionadas com o padrão de merosina encontrado na biópsia muscular. Estudo imuno-histoquímico demonstrou que 11 pacientes eram merosina-deficiente (MD) e sete pacientes eram merosina-positiva (MP). Nenhum dos nove pacientes MD com idade suficiente para serem avaliados alcançaram a capacidade de deambulação, enquanto quatro dos sete pacientes MP atingiram deambulação sem auxílio. Os níveis de creatinoquinase estavam mais aumentados nos pacientes MD, mas a diferença entre os dois grupos não foi estatisticamente significativa. Estudo da condução nervosa motora foi realizado em 12 pacientes. Todos os quatro pacientes MP apresentaram exames normais, enquanto dois de oito pacientes MD apresentaram diminuição da velocidade de condução nervosa motora. Entre 69 parâmetros de biópsia muscular avaliados, não foi encontrada diferença estatisticamente significativa entre os grupos MP e MD. Esses resultados sugerem que a diferenciação entre os casos MP e MD serve para fins de prognóstico, pois os pacientes MP chegam a deambular. Além disso, este estudo indica que não existe relação entre a ausência de merosina e as alterações histológicas encontradas na biópsia muscular.

Palavras-chave: distrofia muscular congênita, merosina, imuno-histoquímica, biópsia muscular.

ABSTRACT

Merosin α₂ chain, an extracellular matrix protein, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). A study of clinical, laboratory and histopathological features of 18 patients with CMD was performed in relation to the merosin expression in muscle biopsy. Immunohistochemistry study showed that merosin was deficient in 11 patients and present in 7. None of the 9 merosin-deficient patient: evaluated achieved walking. In contrast, 4 of 7 merosin-positive patients achieved independent ambulation. Creatine kinase levels were higher in merosin-deficient patients, but this difference was not statistically significant. Motor nerve conduction study was carried out on 12 children. All 4 merosin-positive patients had normal exams whereas 2 out 8 merosin-deficient patients presented decreased motor nerve conduction velocity. Among 69 histopathological features studied, we did not find any significant difference between merosin-deficient and merosin-positive patients. These results suggest that merosin status evaluation is important in the determination of the prognostic, since merosin-positive patients can achieve independent walking. This study also suggests that there is no relation between absence of merosin and histopathological features.

Key words: congenital muscular dystrophy, merosin, immunohistochemistry, muscle biopsy.

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Aceite: 29-agosto-1997.

Dr. Lineu Cesar Werneck - Serviço de Doenças Neuromusculares, Hospital de Clínicas da UFPR - Rua General Carneiro 181,3° andar - 80060-900 Curitiba PR - Brasil.

Datas de Publicação

• Publicação nesta coleção
  07 Out 2010
• Data do Fascículo
  1997