日本两例红细胞丙酮酸激酶（PK）缺乏症纯合子病例：仙台PK和信州PK。

Two homozygous cases of erythrocyte pyruvate kinase (PK) deficiency in Japan: PK Sendai and PK Shinshu.

作者信息

Tani K, Tsutsumi H, Takahashi K, Ogura H, Kanno H, Hayasaka K, Narisawa K, Nakahata T, Akabane T, Morisaki T

机构信息

Department of Pediatrics, School of Medicine, Tohoku University, Sendai, Japan.

出版信息

Am J Hematol. 1988 Jul;28(3):186-90. doi: 10.1002/ajh.2830280312.

DOI:10.1002/ajh.2830280312

PMID:3407638

Abstract

Two new erythrocyte pyruvate kinase (PK) variants with severe nonspherocytic hemolytic anemia are presented. These cases are both considered to be homozygous because of the consanguineous marriages in their parents. Their erythrocyte PK's were characterized by the recommended methods of the International Committee for Standardization in Haematology (ICSH). These two variants have been named PK Sendai and PK Shinshu. PK Sendai showed a high K0.5S (phosphoenolpyruvate), was remarkably inhibited by ATP, and was thermolabile, while PK Shinshu demonstrated remarkably low enzyme activity and required a high level of fructose 1,6-diphosphate for activation.

摘要

本文报道了两例伴有严重非球形红细胞溶血性贫血的新型红细胞丙酮酸激酶（PK）变异体。由于其父母均为近亲结婚，这两例均被认为是纯合子。采用国际血液学标准化委员会（ICSH）推荐的方法对其红细胞PK进行了特征分析。这两种变异体分别被命名为PK仙台和PK信州。PK仙台表现出较高的K0.5S（磷酸烯醇丙酮酸），对ATP有显著抑制作用，且具有热不稳定性，而PK信州则表现出极低的酶活性，需要高水平的1,6-二磷酸果糖来激活。