转氨酶升高的进行性肌营养不良61例

Clinical analysis of 61 cases of progressive muscular dystrophy visiting as transaminase elevation

目的探讨以转氨酶升高为首发表现的进行性肌营养不良(PMD)的临床特点,提高临床医生对该病的认识,避免误诊。方法选取61例以转氨酶升高入院,最后确诊为PMD的患者,总结其临床资料,予以统计分析。结果 (1)男性占96.7%(59/61),73.8%(45/61)患儿6岁以下发病,半数左右的患儿学走路时间较晚,易摔倒、上楼需扶;(2)13.1%(8/61)的患儿有明确家族史,腓肠肌肥大的占59%(36/61),44.1%(26/59)Gower征阳性;(3)所有患者均有血清肌酸激酶(CK)、乳酸脱氢酶(LDH)明显增高,ALT、AST轻度升高;(4)肝活检无特异性病变,肌电图表现为肌源性疾病,肌活检有较特异病变。结论 PMD早期临床表现不典型,或经常被忽视,以发现转氨酶升高就诊者不在少数,容易被误诊为病毒性肝炎;PMD诊断需综合考虑临床表现、家族史、血清酶学、肌电图、肌活检等。

Objective To investigate the clinical characteristics of PMD with the first presentation of transaminase elevation, and to improve the doctor＇s knowledge of this disease, avoiding misdiagnosis. Methods Sixty-one patients who were admitted to hospital with elevated transaminase were diagnosed to have progressive muscular dystrophy （PMD）. Their clinical data was collected and analyzed. Results （1） In the cases, male were of 96. 7% （59/61）. 73.8%（45/61） of the children had the signs and symptoms under six years old, and half of them walked later than the ordinary, fell down easily, and went upstairs with help; （2）13. 1% （8/61） of PMD children had conclusive family history. 590//00 （36/61） of them were with gastrocnemius muscle hypertrophic and 44. 1% （26/59） of them were with Gower showing positive; （3） All of patients had significant increase in serum creatine kinase （CK） and lactate dehydrogenase （LDH） while mild increase in alanine aminotransferase （ALT） and aspartate aminotransferase（AST） ; （4） Liver biopsy showed no specific lesions, EMG presented myogenic disease, and liver biopsy had obviously specific damage. Conclusion The clinical manifestation of PMD is not typical or easy to be neglected in the early stage. Lots of patients visit the doctor for elevated transaminase. However it is easy to be misdiagnosed as viral hepatitis. As a genetic disease, the diagnosis of PMP could be made with clinical manifestations, family history, serum enzymology, electromyogram, muscle biopsy and so on comprehensively.