Abstract

The gold standard for the diagnosis of pyruvate kinase (PK) deficiency, the most frequent red blood cell enzymopathy, is an enzymatic activity assay. However, this assay is rather unreliable in a clinical setting, often leading to misdiagnosis or missed diagnosis. This report presented the cases of two patients diagnosed with PK deficiency using molecular genetic testing, even though conventional laboratory tests, including the PK activity assay, failed to detect any abnormalities. Genetic analysis of the patients and their asymptomatic parents revealed the presence of variants in both alleles of the PKLR gene that were assessed as "likely pathogenic" or "pathogenic" in the form of compound heterozygotes. One of the mutations detected was common in both patients. Our results suggested that genetic testing might be required for the reliable diagnosis of suspected congenital hemolytic anemia cases displaying atypical presentation.

摘要

诊断丙酮酸激酶 (PK) 缺乏症（最常见的红细胞酶病）的金标准是酶活性测定。然而，这种测定在临床环境中相当不可靠，经常导致误诊或漏诊。本报告介绍了使用分子遗传学检测诊断为 PK 缺乏症的两名患者的病例，尽管包括 PK 活性测定在内的常规实验室检测未能检测到任何异常。对患者及其无症状父母的遗传分析揭示了PKLR的两个等位基因中存在变异以复合杂合子的形式被评估为“可能致病”或“致病”的基因。检测到的突变之一在两名患者中都很常见。我们的结果表明，可能需要基因检测来可靠诊断表现出非典型表现的疑似先天性溶血性贫血病例。