原发性肉碱缺乏症临床病理表现特点分析  

Analysis of clinic pathological features of primary carnitine deficiency

作　　者：孔艳青 魏欣 KONG Yan-qing(Department of pathology,Shenzhen Maternal and Child Health Hospital Affiliated to Southern Medical University,Shenzhen,Guangdong,518000,China)

机构地区：[1]南方医科大学附属深圳市妇幼保健院病理科,广东深圳518000

出　　处：《齐齐哈尔医学院学报》2018年第10期1240-1240,F0003,共2页Journal of Qiqihar Medical University

摘　　要：目的探讨原发性肉碱缺乏症的病理特点及其临床特征分析。方法对1例患儿病历资料进行回顾性分析并进行尸体解剖病理诊断。结果尸体解剖病理提示婴儿肝脏肿大、肝小叶结构破坏、肝细胞广泛弥漫性透亮、空泡样、脂肪变性;心脏横位;间质性肺炎、肺出血水肿及肺气肿、肺门淋巴结炎。临床对应表现为肝脏功能异常,脂肪便,肾脏异常表现为血尿;心脏肌酸激酶升高等临床表现。结论原发性肉碱缺乏症临床病变缺乏特异性,病理检查诊断能提供可靠的依据,同时判断病变严重程度。Objective To explore the pathological features of primary carnitine deficiency and analyze its clinical characteristic. Methods Clinical data of one patient with primary carnitine deficiency was analyzed retrospectively and carried out autopsy to make pathology diagnosis. Results The autopsy pathology showed that the liver was enlarged,structure of liver lobule destructed,hepatocyte was extensive diffuse transparency,vacuolar and steatosis. The lung performed interstitial pneumonia,pulmonary hemorrhage,pulmonary edema,emphysema,pulmonary hilum lymphadenitis. The clinical manifestation is abnormal liver function,fat stool.Abnormal renal function manifests as hematuria, cardiac creatine kinase elevated. Conclusions Primary carnitine deficiency lacks clinical specificity,but the diagnosis of pathological can provide a reliable basis and determine the severity degree of the disease.

关 键 词：原发性肉碱缺乏症 尸体解剖 肝脏肿大 染色体遗传病 

分 类 号：R722[医药卫生—儿科]