一例成人果糖-1，6-二磷酸酶缺乏症家系突变基因分析

Mutation analysis of an adult patient with fructose-1, 6.bisphosphatase deficiency in a Chinese family

本研究对1例成人果糖-1，6-二磷酸酶（FBPase）缺乏症患者及其父母进行基因突变分析，并回顾该患者的临床表现、实验室检查及基因遗传特点。基因分析表明该患者FBP1基因第7个外显子第960位鸟嘌呤重复突变（c.960dupG），患者父母均携带杂合c.960dupG突变。患者突出的临床特点是随年龄增长，病程呈现良性化，但可在应激、长时间饥饿、摄入大量果糖等情况下急性发作，典型的临床表现为严重的乳酸酸中毒、低血糖和肝酶的升高。

The gene mutations of a patient with fructose-1,6-bisphosphatase （FBPase） deficiency and her parents were analyzed and her clinical manifestations, laboratory tests, and genetic characteristics were reviewed. The molecular analysis of FBP1 gene showed a G residue duplication at base 960 in exon 7 （ c. 960dupG） in this patient while her parents carried the heterozygous c. 960dupG mutation. The prominent clinical feature of this patient was the benign course of the disease with age. However, acute attack could be triggered by stress, long-time fasting, a large amounts of fructose intake, etc. The typical clinical manifestations were severe lactic acidosis, hypoglycemia, and elevated liver enzymes.