49例肝糖原贮积病的临床研究

发布时间：2018-03-10 14:56

本文选题：糖原累积病　切入点：肝脏病理　出处：《广西医科大学》2014年硕士论文　论文类型：学位论文

【摘要】：目的：总结糖原累积病患者的临床表现、实验室检查结果以及肝脏病理特点，加深对糖原累积病的认识。方法：回顾性分析广西医科大学第一附属医院2003年1月至2011年12月期间收治住院的49例肝糖原累积病患者的临床资料，总结其临床表现、实验室检查结果以及其肝脏病理特点。结果:（1）49例患者中男32例，，女17例，最小年龄为3个月，最大年龄为25岁，8例患者首次确诊时年龄大于5岁。（2）最常见的临床表现是腹部膨隆和肝脏肿大（100%），其次是生长迟缓（70.5%）和脾肿大（42.8％）。（3）实验室检查阳性发现最常见的为低血糖、AST和ALT升高，其次为GGT升高、轻度贫血、高胆固醇血症、高甘油三酯血症、高尿酸血症。（4）42例患者超声检查未发现肝腺瘤，所有患者心电图检查均正常。（5）28例行肝组织病理检查，14例（28.6％）只有肝细胞内糖原肿胀，11例（22.4％）有肝细胞内糖原肿胀和门脉周围纤维化；3例（6.1％）具有肝细胞糖原累积和肝细胞脂肪变性；28例患者中都均无支链淀粉沉淀。结论：（1）肝糖原累积病发病率低，当发现肝肿大伴低血糖的患者应注意鉴别该病。大部分的肝糖原累积病可在＜5岁儿童中发现。（2）腹部膨隆、肝肿大、脾肿大是最主要的临床表现。（3）大多数患者ALT、AST,、GGT升高，其他实验室检查可表现有低血糖、高尿酸血症、高乳酸血症和贫血。（4）肝组织病理检查发现肝细胞糖原累积、门静脉周围纤维化和肝细胞脂肪变性。
[Abstract]:Objective: to summarize the clinical manifestations, laboratory findings and liver pathological features of patients with glycogen accumulative disease. Methods: the clinical data of 49 patients with liver glycogen accumulation disease admitted from January 2003 to December 2011 in the first affiliated Hospital of Guangxi Medical University were analyzed retrospectively. The results of laboratory examination and the pathological features of the liver. Results among 49 patients, 32 were male and 17 female, with a minimum age of 3 months. The most common clinical manifestations of 8 patients aged 25 years or older at the time of first diagnosis are abdominal distension and hepatomegaly 100%, followed by 70.5% of growth retardation) and 42.8% of splenomegaly.) the most common positive laboratory findings are low. The levels of AST and ALT were increased. The second was elevated GGT, mild anemia, hypercholesterolemia, hypertriglyceridemia and hyperuricemia. No hepatic adenoma was found in 42 patients with hyperuricemia. All patients had normal electrocardiogram and 28 cases had liver histopathologic examination. Only hepatocyte glycogen swelling was found in 11 cases (22.4%) there were hepatocyte glycogen swelling and portal fibrosis in 3 cases (6. 1) there was hepatocyte glycogen accumulation and liver fine. There was no amylopectin precipitate in 28 patients with cellular fatty degeneration. Conclusion the incidence of liver glycogen accumulation disease is low. Patients with hepatomegaly and hypoglycemia should pay attention to distinguishing the disease. Most of the liver glycogen accumulative diseases can be found in children under 5 years old.) abdominal swelling, hepatomegaly and splenomegaly are the most important clinical manifestations. Other laboratory tests showed hypoglycemia, hyperuricemia, hyperlactic acidemia and anemia. 4) Hepatocyte glycogen accumulation, periportal fibrosis and hepatocyte steatosis were found by pathological examination of liver tissue.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R575

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