Fanconi-Bickel综合征临床特征分析

Clinical Characteristics of Children with Fanconi-Bickel Syndrome

【目的】总结一种少见的、由葡萄糖转运子2(GLUT2)基因突变引起的遗传病——Fanconi-Bickel综合征(FBS)的临床特征,提高临床医生对该病的诊治水平。【方法】在国内首次报道两例FBS,并与文献报道的病例进行比较,总结FBS的临床特征。【结果】两例FBS患儿均经GLUT2基因检测确诊,临床上呈显著的生长迟缓、腹胀、肝大,伴低血糖、肝脏糖原堆积,与糖原累积症I型(GSD-I)类似;但FBS患儿存在餐后血糖增高、糖尿且程度重于其他小管功能障碍。早期即可有较严重的低血磷性佝偻病、Ⅱ型肾小管酸中毒以及无高乳酸和高尿酸血症等特征有别于GSD-I。与文献报道不同的是,本文两例FBS均为出生小于胎龄儿,其中1例存在较明显的肝功能损害,对目前FBS的临床特征谱进行了补充。【结论】临床上FBS需与GSD-I和糖尿病等鉴别;熟悉和掌握FBS的临床特征,有助于提高临床医生的诊断水平。

[Objective] To provide a descriptive analysis of Fanconi-Bickel syndrome（FBS）,which is a rare inherited disease caused by mutations in the glucose transporter 2（GLUT2） gene and is not well characterized in China.[Methods] We reported the first two cases of FBS in China and described the clinical characteristics of FBS by combining our results with a review of the literatures.[Results] Both of the two affected children who were confirmed by genetic analysis of GLUT2 gene presented with manifestations similar to Glycogen Storage Disease Type 1（GSD-I）,severe short stature,hypoglycemia,hepatomegaly secondary to glycogen accumulation.However,post prandial hyperglycemia,glycosuria and hypophosphatemic rickets secondary to proximal renal tubular dysfunction,type II renal acidosis without elevated lactic acid and uric acid in FBS do not developed in GSD-I.As the characteristics of being born as small for gestational age and apparent liver dysfunction in our children have been seldom described in the literatures,the present study will supplement the up-to-date clinical characteristic spectrum for FBS.[Conclusions] FBS should be differentiated from GSD-I and diabetes mellitus.Careful medical history collection,physical examination,laboratory data evaluation,imaging studies and liver biopsy are helpful in making the correct diagnosis.