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

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.