摘要
目的分析1例由FBP1基因突变导致的果糖-1,6-二磷酸酶缺乏症(FBP1D)患儿的临床表现、基因变异特点及诊疗经过,以提高临床医生对该疾病的认识,并探讨早期诊断和长期管理的策略。方法采用系统回顾性分析方法,对武汉儿童医院接诊的1例FBP1D患儿开展临床特征观察与分子遗传学特征探究,对其临床症状、治疗效果进行分析,并复习相关文献。结果患儿,女,1岁4月,表现为反复呕吐伴低血糖、严重的代谢性酸中毒及高乳酸血症,基因检测显示FBP1基因(chr9:97365719)c.960_961insG(p.S321Vfs*13)纯合突变,确诊为FBP1D。急性期予高糖液体静脉注射,缓解期避免饥饿及果糖摄入;患儿随访至今,无神经系统损害及发育障碍。结论对于反复低血糖伴有高乳酸及代谢性酸中毒的患儿,应考虑糖异生障碍遗传代谢病,尽早行基因检测以明确病因。FBP1D的管理重点在于急性期代谢危象的及时干预和长期合理膳食管理,可显著改善预后。
Objective To analyze clinical manifestations,genetic variation characteristics,and diagnostic-therapeutic decision-making process of a pediatric case of fructose-1,6-bisphosphatase deficiency(FBP1D)caused by FBP1 gene mutation,with the aim of enhancing clinical awareness of this specific condition and exploring strategies for the early diagnosis and long-term management.Methods A systematic retrospective anal1ysis approach was employed to investigate clinical features and molecular genetic profiles of a pediatric FBP1D patient admitted to Wuhan Children’s Hospital.The patient’s clinical symptoms,therapeutic responses,and relevant previous literature were comprehensively reviewed.Results The patient,a 1-year-and-4-month-old female,presented with recurrent vomiting accompanied by hypoglycemia,severe metabolic acidosis,and hyperlactatemia.Genetic testing revealed a homozygous mutation in the FBP1 gene(chr9:97365719)-c.960_961insG(p.S321Vfs*13)-confirming the diagnosis of FBP1D.During the acute phase,intravenous administration of hypertonic glucose solution was implemented,while fasting and fructose intake were avoided during remission.Results of follow-up to date showed no neurological impairment or developmental delays.Conclusion In pediatric patients presenting with recurrent hypoglycemia accompanied by hyperlactatemia and metabolic acidosis,inherited metabolic disorders of gluconeogenesis should be considered as part of diagnosis.Prompt genetic testing should be conducted to clarify the diesease etiology.The management of FBP1D emphasizes timely intervention during acute metabolic crises and long-term dietary regulation,which can significantly improve patient prognostic outcomes.
作者
喻菱
陈晓红
YU Ling;CHEN Xiaohong(Jianghan University,Wuhan 430056,China;Department of Metabolism and Endocrinology,Wuhan Children’s Hospital,Wuhan 430015,China)
出处
《标记免疫分析与临床》
2025年第5期1089-1093,1097,共6页
Labeled Immunoassays and Clinical Medicine
基金
武汉市卫健委面上重点项目(编号:WX20B13)。
