Ia型糖原累积病肾损害  

Type Ia glycogen storage disease related renal damage

作　　者：柳晶 鲍旭波 梁丹丹 左科 LIU Jing;BAO Xubo;LIANG Dandan;ZUO Ke(National Clinical Research Center for Kidney Diseases,Jinling Hospital,Nanjing,210016,China;Yellow River Sanmenxia Affiliated Hospital of Henan University of Science and Technology,Shanmenxia 472000,China)

机构地区：[1]东部战区总医院国家肾脏疾病临床医学研究中心,南京210016 [2]河南科技大学附属黄河三门峡医院

出　　处：《肾脏病与透析肾移植杂志》2024年第6期591-595,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家自然科学基金面上项目(82370733);东部战区总医院院管课题(22JCYYB2)。

摘　　要：青年男性患者,因发现蛋白尿10年余就诊,临床相关检查提示肝肿大,空腹血糖低,高尿酸血症,高脂血症及骨质疏松,肾活检病理提示肾小球体积增大伴球性废弃,肾小管上皮细胞肥大扩张、空泡变性、糖原沉积,基因检测提示G6PC基因变异(c.648G>T),综合考虑Ia型糖原累积病肾损害。A young male patient has been experiencing proteinuria for over 10 years.Clinical examination revealed hepatomegaly,low fasting blood glucose,hyperuricemia,hyperlipidemia,and osteoporosis.Renal biopsy histology indicated enlarged glomeruli with global sclerosis,as well as hypertrophic and dilated tubular epithelial cells exhibiting vacuolar degeneration and glycogen deposition.Subsequent genetic testing identified a mutation in the G6PC gene(c.648G>T),leading to the diagnosis of type Ia glycogen storage disease-related renal damage in this patient.

关 键 词：Ia型糖原累积病 肾损害 糖原沉积 基因变异 

分 类 号：R692[医药卫生—泌尿科学] R589[医药卫生—外科学]