Iwańczak F, Stawarski A, Potyrała M, Siedlecka-Dawidko J, Agrawal G S
2nd Department and Clinic of Pediatrics and Gastroenterology, Medical University, ul. M. Skłodowskiej-Curie 50/52, 50-369 Wrocław, Poland.
Med Sci Monit. 2000 May-Jun;6(3):592-5.
The paper presents the description of Duchenne progressive muscular dystrophy in an 18-month-old and an 8-year-old boy. The diagnosis was established on the basis of clinical symptoms, such as impaired motor development, hypertrophy of leg muscles, difficulty in walking; elevated serum phosphocreatine kinase activity and pathologic electromyographic recordings. The authors emphasize that the disease is characterized by increased activity of such enzymes as: alanine and aspartate aminotransferases, lactate dehydrogenase and aldolase--observed as early as in the first weeks of life, with normal gammaglutamyltranspeptidase activity suggests progressive muscular dystrophy and makes it possible to establish early diagnosis. Early diagnosis of the disease allows to start rehabilitation earlier, to select an appropriate type of anesthesia in case of surgical treatment and to advise parents within the framework of genetic counseling.
本文介绍了一名18个月大男孩和一名8岁男孩的杜兴氏进行性肌营养不良症。诊断基于临床症状，如运动发育受损、腿部肌肉肥大、行走困难；血清磷酸肌酸激酶活性升高以及病理肌电图记录。作者强调，该病的特征是早在生命的第一周就观察到丙氨酸和天冬氨酸转氨酶、乳酸脱氢酶和醛缩酶等酶的活性增加，γ-谷氨酰转肽酶活性正常提示进行性肌营养不良症，从而有可能进行早期诊断。该病的早期诊断有助于更早开始康复治疗，在手术治疗时选择合适的麻醉类型，并在遗传咨询框架内向家长提供建议。
