Glycogen storage disease type Ⅰ a complicated with renal insufficiency and lactic acidosis: a case report and literature review
10.3760/cma.j.cn441217-20230731-00717
- VernacularTitle: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
- Author:
Taohong YANG
1
;
Huai LI
;
Deguang WANG
;
Xinyu LI
;
Xuerong WANG
Author Information
1. 安徽医科大学第二附属医院肾脏内科，合肥 230601
- Keywords:
Glycogen storage disease type Ⅰ;
Renal insufficiency;
Acidosis, lactic
- From:
Chinese Journal of Nephrology
2024;40(6):481-483
- CountryChina
- Language:Chinese
-
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.
