The clinical and laboratory characteristics of congenital pyruvate kinase deficiency
- VernacularTitle:先天性丙酮酸激酶缺乏症临床及实验室检查特征分析
- Author:
Lin SONG
1
;
Yuan LI
;
Guangxin PENG
;
Li ZHANG
;
Liping JING
;
Kang ZHOU
;
Yang LI
;
Lei YE
;
Jianping LI
;
Huihui FAN
;
Xin ZHAO
;
Wenrui YANG
;
Yang YANG
;
Yuping ZHAO
;
Youzhen XIONG
;
Zhijie WU
;
Fengkui ZHANG
Author Information
- Keywords: Pyruvate kinase deficiency; Diagnosis
- From: Chinese Journal of Internal Medicine 2018;57(7):511-513
- CountryChina
- Language:Chinese
- Abstract: 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.
