表现为肾功能不全伴乳酸酸中毒的糖原贮积病Ⅰa型1例和文献复习  

Glycogen storage disease typeⅠa complicated with renal insufficiency and lactic acidosis:a case report and literature review

作　　者：杨桃红 黎淮[1] 王德光[1] 李新玉 王雪荣[1] Yang Taohong;Li Huai;Wang Deguang;Li Xinyu;Wang Xuerong(Department of Nephrology,the Second Affiliated Hospital of Anhui Medical University,Hefei 230601,China)

机构地区：[1]安徽医科大学第二附属医院肾脏内科,合肥230601

出　　处：《中华肾脏病杂志》2024年第6期481-483,共3页Chinese Journal of Nephrology

基　　金：安徽省高校科学研究项目(KJ2021A0314);安徽省高校优秀拔尖人才培育项目(gxgwfx2021013);安徽省卫生健康科研项目(AHWJ2023A20134);安徽医科大学第二附属医院临床研究培育计划项目(2020LCYB06);安徽医科大学校科研基金(2021xkj165)。

摘　　要：糖原贮积病(glycogen storage disease,GSD)是临床上少见的一组常染色体隐性遗传病。该文报道1例4年来反复出现多关节疼痛最终通过基因检测确诊为GSDⅠa型、伴有血肌酐升高和严重高乳酸性代谢性酸中毒的病例,经过积极补液、纠正酸中毒治疗,患者血肌酐较前显著下降,酸中毒得到改善。该文总结该GSD患者伴肾功能不全的特征以及相关文献内容,以期提高临床医师对该疾病的认识和治疗效果。Glycogen storage disease(GSD)is a rare autosomal recessive inherited disease in clinic.The paper reported a case of GSDⅠa diagnosed by genetic testing,who had been experiencing numerous joint pains for 4 years,and had increased serum creatinine and severe high lactic acid metabolic acidosis.The serum creatinine declined and acidosis recovered after active fluid therapy and acidosis correction.The paper summarized the characteristics of this GSD patient with renal insufficiency and the relevant literature contents,to improve the understanding of clinicians on the disease and treatment effect.

关 键 词：糖原贮积病Ⅰ型 肾功能不全 酸中毒 乳酸性 

分 类 号：R596[医药卫生—内科学]