摘要
目的总结Ⅲ型糖原累积病（GSDⅢ型）的临床及病理特点。方法收集12例GSDⅢ型患者的临床资料，并做肌肉活检，采用常规组织学方法和组织化学方法染色，在光镜、电镜下观察。结果12例患者均幼年起病出现肝大、低血糖相关症状，肌病表现为：乏力感、易疲劳、会走路晚、运动慢、上楼费力、运动后胸闷憋气、不能跑跳。均有空腹低血糖、氨基转移酶升高；伴肌酸激酶（CK）升高、代谢性酸中毒者各11例；9例有血脂异常；5例血乳酸升高；血尿酸升高、血浆肉碱水平减低各1例。腹部B超均示肝大；1例超声心动（UCG）改变符合心肌病，11例餐后肾上腺素刺激试验阳性。生玉米淀粉治疗对所有患者肝病症状均有效。肌肉病理改变以肌纤维空泡样变为特征；高碘酸Schiff反应（PAS）染色示糖原颗粒增多；酸性磷酸酶（ACP）染色示2例部分ACP活性明显增高；油红O（ORO）染色示6例脂滴轻度增多。结论GSDin型的临床表现多样，关注肝脏病变的同时，应重视肌肉及心肌受累情况，肌肉病理改变与肌无力程度、病程、肌酶水平的相关性不确定。
Objectives To summarize the clinical and pathological features of glycogen storage disease （GSD） type Ⅲ. Methods The clinical data of 12 GSD type lit, 8 males and 4 females, aged 2 - 27, were collected. The biopsy specimens of quadriceps muscle of thigh underwent HE and histochemical staining and light and electron microscopy. Results The main clinical feature were hepatomegaly and hypoglycemic symptoms, slow growth, and microsoma since childhood, while myopathy was mild. Laboratory findings included low plasma glucose （n = 12） , high liver transaminses （n = 12） , increased CK （n = 11 ） , mild metabolic acidosis （n = 1l ）, hyperlipemia （n =9） , elevation of blood lactate （n =5）, high uric acid （ n = 1 ） , and decrease of serum carnitine level （ n = 1 ） . One patient had echographic evidence of cardiomyopathy. 11 patients were postprandial adreanalin stimulation test positive . Raw corn starch therapy was used on all patients and showed effective on liver manifestations. Muscle biopsy showed vacuolar myopathy, PAS positive glycogen granules in muscle fibers, small loci of intense ACP reactivity, and deposit of lipid droplets. Conclusion GSD type Ⅲ exhibits a clinical heterogeneity. Besides hepatic symptoms, myopathy and eardiomyopathy should be addressed adequately. The degree of pathological change of muscles is not significantly related to the degree of functional impairment, duration of disease, and level of CK.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2009年第15期1064-1066,共3页
National Medical Journal of China
关键词
糖原累积病
肌疾病
病理学
Glycogen storage disease
Muscular diseases
Pathology
