Distrofina na diferenciação das distrofias de duchenne e becker estudo imuno-histoquímico comparado com o estádio clínico, enzimas séricas e biópsia muscular

Abstract

RESUMO -Foram estudados 55 casos de distrofia muscular progressiva (34 Duchenne, 12 Duchenne com distrofina residual e 9 Becker), comparando idade, época de início e tempo de sintomas, graduação na escala de Vignos e Archibald, níveis de enzimas séricas e presença de distrofina nas biópsias musculares por imunofluorescência. A intensidade dos sintomas, gravidade do quadro clínico, proliferação de tecido ccnjuntivo endomisial e infiltração por tecido adiposo estão inversamente relacionadas à quantidade de distrofina presente nas biópsias e, diretamente, à presença de fibras hipertróficas e fibras angulares escuras atróficas. Nos comentários são abordados alguns aspectos sobre a diferenciação da distrofia muscular de Duchenne e Becker, a distrofina residual nos casos de Duchenne e a importância do teste para o diagnóstico adequado. Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunofluorescence study of dystrophin in muscle biopsies related with the clinical stage, serum enzymes and histological findings.SUMMARY -Study of 55 cases of progressive muscular dystrophies (34 Duchenne, 12 Duchenne with residual dystrophin and 9 Becker patients) comparing age, age at the initial symptoms, duration of symptoms, levels of serum enzymes, degree of disability measured by the Vignos and Archibald scale, and the type and amount of dystrophin found in the muscle biopsies by immunofluorescence. Statistical analysis showed a tendency of the symptoms and progression of disease to be related with the low quantity of dystrophin in the biopsies. There was no difference in the parameter analysed between the Duchenne patients with, and without residual dystrophin, as well as the Duchenne with residual dystrophin and Becker patients.There was an inverse relation with the amount of dystrophin and 1 the endomysial connective tissue and fatty infilration, and a direct relation with hypertrophic fibers and atrophic angulated fibers in the NADH-tetrazolium reductase. In the comments a discussion is made about the difficulties in differentiate Duchenne and Becker dystrophies, the cases with residual dystrophin and the importance of the correct diagnosis.A determinação do locus do gene da distrofia muscular progressiva de Duchenne permitiu identificar o respectivo produto, uma proteína de 400 kilodaltons que foi chamada distrofina, existente em pessoas normais e associada às tríades do sistema sarcotuoular ic.i3,i5,i9A distrofina foi detectada nas membranas externas das fibras musculares esfriadas e lisas, bem como em neurônios cerebrais e da medula espinhal 3,12. A heterogneidade das apresentações clínicas e a variação da intensidade dos sintomas, em formas mais benignas como a distrofia muscular de Becker, parecem estar relacionadas ao nível e intensidade das deleções que ocorrem no DNA dos pacientes 8,9,18.

Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

“…All muscle biopsies specimens were stored in liquid nitrogen at À1708. A routine histochemistry and immunohistochemistry analysis was performed previously [Werneck, 1981;Werneck and Bonilla, 1990]. The 48 specimens were subjected to DNA studies without knowing either the clinical or the immunohistochemistry diagnosis.…”

“…Duchenne muscular dystrophy (DMD) is a progressive X-linked neuromuscular disease, whose incidence is about one in 3,500 live borns [Werneck and Bonilla, 1990;Engel et al, 1994]. It often results in death in the second decade of life.…”

Diagnosis of dermatomyositis and polymyositis: a study of 102 cases

“…The patients were appraised in the Neuromuscular Disorders Service of the "Hospital de Clínicas" of the "Universidade Federal do Paraná" in Curitiba-Brazil. All clinical records bearing these diagnoses were then individually revised and the following data were obtained: (1) demographic: age of first hospital diagnosis, sex; (2) dates of disease onset (first symptom); (3) clinical information relevant to PM and DM, neoplasms and other connective-tissue disease including data from clinical history focused on chief complaints, and general/neurological physical examination, which analyzed typical skin rash and proximal and distal muscle strength, tonus and reflexes in upper and lower limbs; (4) laboratory values of erythrocyte sedimentation rate (ESR) and levels of serum muscle enzymes creatine kinase (CK), lactate dehydrogenase (LDH), aldolase (ALD), aspartate aminotransferase (AST) and alanine aminotransferase (ALT), which were analyzed in how many times normal the mean was from normal values; (5) needle electromyographic (EMG) abnormalities and (6) histopathological findings on fresh-frozen muscle biopsy, which was accomplished in all patients included in the study and submitted to the following staining and histochemical reaction: hematoxilin-eosin, modified Gomori trichrome, oil red O, PAS, cresyl violet, sirius red, NADH-tetrazolium reductase, ATPases pH 4.3, 4.6, 9.4, myophosphorylase, nonspecific esterase, alkaline phosphatase, acid phosphatase, succinic dehidrogenase and cytochrome c-oxidase 12,13 .…”

“…Besides this electromyographic pattern is not specific for DM/PM, the presence of mixed myopathic and neurogenic potentials may also be found in advanced cases of PM/DM 3,5,8 . Muscle biopsy is the test for establishing the definitive diagnosis of inflammatory myopathies 3,5,8,12,13 .…”

Análise imunocitoquímica do infiltrado inflamatório na miosite com corpos de inclusão citoplasmática e em outras doenças neuromusculares com vacúolos marginados

“…O diagnóstico anatomopatológico foi miopatia (ativa e/ou crônica) em cinco casos, mista (miopatia e desinervação) em sete, desinervação em dois e miopatia inflamatória em dois casos, conforme critérios estabelecidos anteriormente 13,14 .…”