先天性丙酮酸激酶缺乏症临床及实验室检查特征分析  

The clinical and laboratory characteristics of congenital pyruvate kinase deficiency

作　　者：宋琳[1] 李园[1] 彭广新 张莉[1] 井丽萍[1] 周康[1] 李洋[1] 叶蕾[1] 李建平[1] 樊慧慧[1] 赵馨[1] 杨文睿[1] 杨洋[1] 赵玉平[1] 熊佑桢 武志洁 张凤奎[1] Song Lin;Li Yuan;Peng Guangxin;Zhang Li;Jing Liping;Zhou Kang;Li Yang;Ye Lei;Li Jianping;Fan Huihui;Zhao Xin;Yang Wenrui;Yang Yang;Zhao Yuping;Xiong Youzhen;Wu Zhijie;Zhang Fengkui(Institute of Hematology and Blood Disease Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,State Key Laboratory of Experimental Hematology,Tianjin 300020,Chin)

机构地区：[1]中国医学科学院北京协和医学院血液学研究所血液病医院,天津300020

出　　处：《中华内科杂志》2018年第7期511-513,共3页Chinese Journal of Internal Medicine

摘　　要：通过分析确诊的19例先天性丙酮酸激酶缺乏症患者资料，总结了对先天性丙酮酸激酶缺乏症患者的溶血病因诊断有提示作用的临床和实验室特征。对新生儿高胆红素血症和不明原因的溶血性贫血患者进行丙酮酸激酶活性筛查和二代基因测序可能有助于早期明确诊断。Clinical data of 19 patients with congenital pyruvate kinase deficiency were analyzed. Insufficient pyruvate kinase confirmed the diagnosis. Laboratory parameters of hemolysis were summarized. In cases of neonatal hyperbilirubinemia and unexplained hemolytic anemia, pyruvate kinase activity and next generation sequencing test may help the early diagnosis.

关 键 词：丙酮酸激酶缺乏 诊断 

分 类 号：R55[医药卫生—血液循环系统疾病]