Department of Pediatric Hematology and Oncology, University of Texas Medical Branch at Galveston, Galveston, Texas.
Pediatr Blood Cancer. 2014 Aug;61(8):1463-5. doi: 10.1002/pbc.24953. Epub 2014 Jan 30.
Pyruvate kinase (PK) deficiency is the commonest enzyme deficiency in the glycolytic pathway leading to hemolytic anemia secondary to decreased Adenosine Triphosphate (ATP) synthesis in the red cells. synthesis. PK deficiency due to mutations in the PKLR (1q21) gene leads to highly variable clinical presentation ranging from severe fetal anemia to well compensated anemia in adults. We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). Persistently low erythrocyte PK levels and double heterozygous mutations present in the PKLR gene confirmed the diagnosis of PK deficiency.
丙酮酸激酶（PK）缺乏症是糖酵解途径中最常见的酶缺乏症，导致红细胞中三磷酸腺苷（ATP）合成减少，从而引起溶血性贫血。由于 PKLR（1q21）基因突变导致的 PK 缺乏症可导致临床表现高度多样化，从严重的胎儿贫血到成人代偿良好的贫血。我们描述了一名依赖输血的贫血儿童的骨髓中红细胞生成异常，其单侧多囊性发育不良肾（MCDK）类似于先天性红细胞生成异常性贫血 I 型（CDA I 型）。持续低的红细胞 PK 水平和 PKLR 基因中存在的双重杂合突变证实了 PK 缺乏症的诊断。
