Hereditary fructose intolerance: A comprehensive review  

作　　者：Sumit Kumar Singh Moinak Sen Sarma 

机构地区：[1]Department of Pediatrics,Sri Aurobindo Medical College and PGI,Indore 453555,Madhya Pradesh,India [2]Department of Pediatric Gastroenterology,Sanjay Gandhi Postgraduate Institute of Medical Sciences,Lucknow 226014,India

出　　处：《World Journal of Clinical Pediatrics》2022年第4期321-329,共9页世界临床儿科杂志

摘　　要：Hereditary fructose intolerance(HFI)is a rare autosomal recessive inherited disorder that occurs due to the mutation of enzyme aldolase B located on chromosome 9q22.3.A fructose load leads to the rapid accumulation of fructose 1-phosphate and manifests with its downstream effects.Most commonly children are affected with gastrointestinal symptoms,feeding issues,aversion to sweets and hypoglycemia.Liver manifestations include an asymptomatic increase of transaminases,steatohepatitis and rarely liver failure.Renal involvement usually occurs in the form of proximal renal tubular acidosis and may lead to chronic renal insufficiency.For confirmation,a genetic test is favored over the measurement of aldolase B activity in the liver biopsy specimen.The crux of HFI management lies in the absolute avoidance of foods containing fructose,sucrose,and sorbitol(FSS).There are many dilemmas regarding tolerance,dietary restriction and occurrence of steatohepatitis.Patients with HFI who adhere strictly to FSS free diet have an excellent prognosis with a normal lifespan.This review attempts to increase awareness and provide a comprehensive review of this rare but treatable disorder.

关 键 词：HEREDITARY FRUCTOSE INTOLERANCE Children Liver STEATOHEPATITIS ALDOLASE 

分 类 号：R725.9[医药卫生—儿科]