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 type Ⅰ a complicated with renal insufficiency and lactic acidosis:a case report and literature review
杨桃红 1黎淮 1王德光 1李新玉 1王雪荣1
作者信息
- 1. 安徽医科大学第二附属医院肾脏内科,合肥 230601
- 折叠
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GSD Ⅰa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.
Abstract
Glycogen storage disease(GSD)is a rare autosomal recessive inherited disease in clinic.The paper reported a case of GSD Ⅰ a 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Key words
Glycogen storage disease type Ⅰ/Renal insufficiency/Acidosis,lactic引用本文复制引用
基金项目
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)
出版年
2024
NETL
NSTL
万方数据