果糖-1,6-二磷酸酶缺乏症诊疗进展

果糖-1,6-二磷酸酶缺乏症是一种罕见的遗传代谢病,为常染色体隐性遗传,主要临床特征为反复发作性低血糖和代谢性酸中毒,可迅速纠正,并且每次发作有诱因可循,稳定期没有症状,因此常常被误诊.代谢紊乱期行血尿遗传代谢检查有助于诊断.果糖-1,6-二磷酸酶是糖异生途径中的关键酶,该酶缺陷导致糖异生障碍,致使上游底物堆积和低血糖.该病为FBP1基因突变所致,至今已报道30余种突变类型.该病目前没有特效治疗,治疗目的是预防反复发生代谢紊乱,提高患儿生活质量.若早期诊断、恰当的生活方式干预,患儿可以带病正常生活.该病大多数预后良好,患者甚至可以孕育正常儿童.

Progress of fructose-1, 6-bisphosphatase deficiency

Fructose-1,6-bisphosphatase(FBPase) deficiency is a rare inherited metabolic disease,which is an autosomal recessive metabolic disorder.Affected patients usually present with metabolic crisis including severe hypoglycemia and metabolic acidosis.Each attack occurred with a similar sequence.The triggering factors are removed and then clinical status is improved dramatically.As patients are usually symptomless in the plateau stage,it is often misdiagnosed.Metabolite assay in blood and urine is very useful for the diagnosis of FBPase deficiency.FBPase is a key enzyme in gluconeogenesis.Deficiency of FBPase impairs the formation of glucose from all precursors.FBP1 gene mutation contributes to the disease.More than 30 mutation types have been reported.There is no specific treatment.Early diagnosis and appropriate life-style can prevent repetitive metabolic derangements,improving life quality of these children and ensuring successful pregnancy.