以痛风为首发的糖原贮积症Ⅰa型一例  

A case of glycogen storage disease type Ⅰa with gout as the first manifestation

作　　者：但玲英 宋筱筱[1] 俞韩啸 DAN Lingying;SONG Xiaoxiao;YU Hanxiao(Department of Endocrinology,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China;Department of Endocrinology,Lishui Hospital of Traditional Chinese Medicine,Lishui 323020,Zhejiang Province,China;Clinical Research Center,the Second Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 310009,China)

机构地区：[1]浙江大学医学院附属第二医院内分泌科,浙江杭州310009 [2]丽水市中医院内分泌科,浙江丽水323020 [3]浙江大学医学院附属第二医院临床研究中心,浙江杭州310009

出　　处：《浙江大学学报（医学版）》2023年第2期230-236,共7页Journal of Zhejiang University(Medical Sciences)

基　　金：国家自然科学基金(81300083)。

摘　　要：一例24岁男性因反复脚踝处红肿热痛伴易饥饿就诊,双能CT扫描显示双侧跟骨后缘及双侧跖趾关节间隙多发小痛风石。实验室检查结果提示高脂血症、高乳酸血脂、空腹血糖偏低。肝脏组织病理学可见显著糖原累积。进一步完善家系葡萄糖-6-磷酸酶催化亚基(G6PC)基因测序,结果证实G6PC基因c.248G>A(p.Arg83His)、c.238T>A(p.Phe80Ile)复合杂合突变,其中c.248G>A突变来自母亲,c.238T>A突变来自父亲,诊断糖原贮积症Ⅰa型。予高淀粉饮食,限制单糖摄入,同时进行降尿酸、降血脂等治疗,患者病情逐渐趋于稳定,随访一年,无痛风急性发作,饥饿感明显改善。A 24-year-old male was admitted due to recurrent redness,swelling,fever and pain in the ankle,frequently accompanied by hungry feeling.Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints.The laboratory examination results indicated hyperlipidemia,high lactate lipids,and low fasting blood glucose.Histopathology of liver biopsy showed significant glycogen accumulation.The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A(p.Arg83His) and c.238T>A(p.Phe80Ile) in the proband.The c.248GA mutation was from mother and the c.238T>A mutation was from father.The diagnosis of glycogen storage disease type Ⅰa was confirmed.After giving a high starch diet and limiting monosaccharide intake,as well as receiving uric acid and blood lipids lowering therapy,the condition of the patient was gradually stabilized.After a one-year follow-up,there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.

关 键 词：糖原贮积症Ⅰa型 痛风 葡萄糖-6-磷酸酶催化亚基 基因突变 病例报告 

分 类 号：R589.1[医药卫生—内分泌]