Kaiser U B, Hegele R A
Department of Medicine, St. Michael's Hospital, University of Toronto, Ontario, Canada.
Am J Med Sci. 1991 Dec;302(6):364-8. doi: 10.1097/00000441-199112000-00008.
Hereditary fructose intolerance (HFI) is a recessive genetic disorder with an estimated disease frequency of 1 in 20,000 and a carrier frequency of 1 in 70. Affected individuals are unable to assimilate fructose from fruit sugars and may develop severe hypoglycemia, metabolic problems, and death if misdiagnosed. Those who survive childhood learn to avoid sweets, effectively preventing further symptoms and complications. The disease is caused by a genetically defective hepatic enzyme, aldolase B. Traditionally, diagnosis has been made by intravenous fructose challenge or by liver biopsy, both difficult and risky invasive tests. Identification of mutations of the aldolase B gene by analysis of DNA from blood leukocytes is now possible, allowing for potential noninvasive diagnosis of subjects at risk in the future. The authors demonstrate heterozygosity for an aldolase B gene mutation in a patient with HFI.
遗传性果糖不耐受症（HFI）是一种隐性遗传疾病，估计发病率为两万分之一，携带者频率为七十分之一。患病个体无法从水果糖分中吸收果糖，如果误诊，可能会出现严重低血糖、代谢问题甚至死亡。那些度过童年的患者学会避免食用甜食，从而有效预防进一步的症状和并发症。该疾病由肝脏中一种存在基因缺陷的酶——醛缩酶B引起。传统上，诊断通过静脉注射果糖激发试验或肝脏活检进行，这两种都是困难且有风险的侵入性检查。现在通过分析血液白细胞中的DNA来鉴定醛缩酶B基因突变成为可能，这使得未来有可能对有风险的个体进行潜在的非侵入性诊断。作者在一名HFI患者中证实了醛缩酶B基因突变的杂合性。
