PDF(Pubmed)
Abstract：
BACKGROUND Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency is an extremely rare autosomal recessive inherited error of metabolism in which gluconeogenesis is impaired, resulting in life-threatening episodes of hypoglycemia and metabolic acidosis. The diagnosis of gluconeogenesis disorders is challenging. In the diagnostic pathway, the molecular test plays a paramount role. CASE REPORT The aim of the paper is to present the case report of a girl with recurrent episodes of severe hypoglycemia, in whom molecular diagnosis enabled the confirmation of PEPCK - C deficiency. The patient experienced 4 episodes of severe hypoglycemia. Most of them were accompanied by hyperlacticaemia, metabolic acidosis, and elevated liver enzymes. All of the metabolic decompensations were triggered by infectious agents. The episodes resolved after continuous infusion of high-dose glucose. Due to the recurrent character of the disease, a genetic condition was suspected. The differential diagnosis included metabolic and endocrinological causes of hypoglycemia. Two variants in the PCK1 gene were detected: c.265G>A p.(Glu89Lys) in exon 3 and c.925G>A p.(Gly309Arg) in exon 6. As c.925G>A p.(Gly309Arg) is a known pathogenic variant, the second variant was first described in June 2023 in the ClinVar database and described as \"with unknown clinical significance\". CONCLUSIONS According to the clinical symptoms observed in the presented case, the variant c.265G>A p.(Glu89Lys) in PCK1 gene should be considered likely pathogenic. We suggest considering molecular diagnostics in every patient presented with recurrent, severe hypoglycemia with accompanying liver damage as most accurate, feasible, and reliable method.
摘要：
背景胞质磷酸烯醇丙酮酸羧激酶（PEPCK-C）缺乏症是一种极其罕见的常染色体隐性遗传代谢错误，其中糖异生受损，导致危及生命的低血糖和代谢性酸中毒。糖异生障碍的诊断具有挑战性。在诊断途径中，分子测试起着至关重要的作用。病例报告本文的目的是介绍一例反复发作的严重低血糖的女孩的病例报告，分子诊断能够确认PEPCK-C缺乏症。患者经历4次严重低血糖发作。其中大多数伴有高乳酸血症，代谢性酸中毒,和肝酶升高。所有的代谢失代偿都是由感染因子触发的。连续输注高剂量葡萄糖后，发作得以解决。由于这种疾病的复发性，怀疑是遗传病。鉴别诊断包括低血糖的代谢和内分泌原因。在PCK1基因中检测到两个变体:c.265G>Ap。(Glu89Lys)在外显子3中和c.925G>Ap。(Gly309Arg)在外显子6中。由于c.925G>Ap。（Gly309Arg）是已知的致病变体，第二个变异体于2023年6月在ClinVar数据库中首次被描述,并被描述为“具有未知的临床意义”.结论根据本病例的临床症状,PCK1基因中的变异c.265G>Ap。（Glu89Lys）应被认为可能是致病性的。我们建议考虑对每位复发患者进行分子诊断，严重低血糖伴随肝损伤是最准确的，可行,方法可靠。
