遗传性果糖不耐受症

遗传性果糖不耐受症（HFI）是一种罕见的、由于先天性醛缩酶B缺陷导致的果糖代谢病。为常染色体隐性遗传性疾病。特征是摄取果糖、蔗糖或山梨醇后发生严重的低血糖。若不及时终止此类食物，会导致肝肾功能损伤及生长发育障碍。本病诊断比较困难，治疗主要以对症治疗和饮食控制为主。本文就遗传性果糖不耐受症的临床生化特征、诊治方法及醛缩酶B损伤的分子学基础进行综述，为临床早期发现、早期诊断、早期治疗遗传性果糖不耐受症提供参考。

Hereditary Fructose Intolerance

Hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B. The affected individuals develop severe hypoglycaemia after taking foods containing fructose and cognate sugars. Continued ingestion of noxious sugars leads to hepatic and renal injury and growth retardation. The diagnosis of HFI is difficult, and treatment mainly involves supportive care and elimination of all sucrose, fructose, and sorbitol from the diet.This review discusses the clinical and biochemical features, diagnostic and therapeutic strategies, and molecular basis of human aldolase B deficiency in HFI, in which the early discovery, early diagnosis and early treatment of the disease are thus handled by clinicians.