Uno H, Sawano F, Fujii H, Miwa S, Tsuda K
Second Department of Internal Medicine, Miyazaki Medical College, Japan.
Jpn J Med. 1990 Mar-Apr;29(2):168-73. doi: 10.2169/internalmedicine1962.29.168.
A case of congenital hemolytic anemia caused by pyruvate kinase (PK) deficiency variant designated PK 'Nichinan' is presented. A 29-old patient with a history of anemia and hepatosplenomegaly had an episode of aplastic crisis associated with fever, abdominal symptoms and worsening hepatosplenomegaly. Study of the family members revealed that his mother and two of three siblings showed decreased PK activity whereas his father showed normal PK activity with a normal level of glycolytic intermediates. The patient was assumed to be a double heterozygote with two separate mutant genes from the parents despite the apparent normality of his father's erythrocyte PK.
本文报告了一例由丙酮酸激酶（PK）缺乏变异型“日南型”（PK 'Nichinan'）引起的先天性溶血性贫血病例。一名29岁有贫血和肝脾肿大病史的患者发生再生障碍危象，伴有发热、腹部症状及肝脾肿大加重。对其家庭成员的研究发现，他的母亲和三个兄弟姐妹中的两个PK活性降低，而他的父亲PK活性正常，糖酵解中间产物水平也正常。尽管患者父亲的红细胞PK明显正常，但推测该患者为来自父母的两个不同突变基因的双重杂合子。
