2018•PubMedRequires access
[The clinical and laboratory characteristics of congenital pyruvate kinase deficiency].
Lin Song, Li Y, Peng Gx, L Zhang, Jing Lp, Kangbin Zhou, Y Li, Ye L, J P Li, H H Fan, X Zhao, Yunfei Yang, Y Yang, Y P Zhao, Y Z Xiong, Z J Wu, F K Zhang
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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.