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目的探讨儿童肝糖原累积病(GSD)的临床特点、肝组织病理及超微病理改变特征。方法对2005年8月-2007年3月本院儿科以肝脏受累为主要表现,临床拟诊为GSD的10例患儿(男7例,女3例)行肝穿刺活检术,分析肝组织病理、超微病理特征及临床特点。结果10例患儿均诊断为GSD。其中GSDⅠ-型8例,GSDⅢ-型、可疑GSDⅣ-型各1例。均有明显肝大及生长发育落后,脾大3例,纳差、呕吐2例,皮肤黄疸2例,其中1例并巨细胞病毒感染。所有患儿均有空腹低血糖,代谢性酸中毒8例,高脂血症6例。普通病理报告提示GSD 8例,2例无特别提示。超微病理报告提示GSD 9例,1例可疑GSD。结论GSD是儿童较常见的遗传代谢性疾病,肝组织活检可有助于诊断,电镜检查肝组织超微结构可明显提高诊断率。
Objective To investigate the clinical features of liver glycogen storage disease (GSD), pathological features of liver and ultrastructural changes. Methods From August 2005 to March 2007, pediatric liver involvement was the main manifestation. 10 children (7 males and 3 females) clinically diagnosed as GSD underwent liver biopsy, and hepatic histopathology , Superficial pathological features and clinical features. Results All 10 cases were diagnosed as GSD. One GSD Ⅰ-type in 8 cases, GSD Ⅲ-type, suspicious GSD Ⅳ-type in 1 case. Significant hepatomegaly and growth and development were backward, splenomegaly in 3 cases, anorexia, vomiting in 2 cases, skin jaundice in 2 cases, 1 case and cytomegalovirus infection. All children had fasting hypoglycemia, metabolic acidosis in 8 cases, 6 cases of hyperlipidemia. General pathology report GSD 8 cases, 2 cases without special tips. Superficial pathology reports suggest 9 cases of GSD and 1 case of suspected GSD. Conclusion GSD is a common genetic metabolic disease in children. Liver biopsy can be helpful for diagnosis. Electron microscopy of liver ultrastructure can significantly improve the diagnosis rate.