肝糖原累积症-I型的肾脏改变  

Renal disease in type I glycogen storage disease.

作　　者：魏珉[1] 王丹华[2] 赵时敏[3] 

机构地区：[1]中国医学科学院 [2]中国协和医科大学 [3]北京协和医院儿科,100730

出　　处：《中国优生与遗传杂志》1996年第5期108-109,114,共3页Chinese Journal of Birth Health & Heredity

摘　　要：本文观察了14例临床或病理诊断的肝糖原累积症-Ⅰ型(GSD),年龄3月-19岁,5例(36%)伴有肾脏改变.其中1例,8岁,仅血β_2-M轻度升高,4例大于12岁.4例中2例表现为轻度蛋白尿,3例内生肌酐清除率降低,3例β_2-M轻度升高,1例伴继发性Fanconi综合征和肾性佝倭病表现.1例(14岁)进行了肾活检,光镜下示系膜基质轻度增生,肾小管胞浆内有糖原物质沉积.观察结果表明GSD-Ⅰ型病人的肾脏改变较为普遍,应密切追随肾脏情况,以期经过合理饮食治疗后能延缓本病晚期肾功能恶化.Of 14 patients with type I glycogen storage disease (GSD-I) under our care, aged 3m-19 years old,5 patients (36%) have evidence of dsturved renal function. One child aged 8 years old orily has mild elevated serum B2-M. 4 patients aged over 12 years old mamfestated by mildp roteinuria(2), altered creatinine clearance (3), elevated serum B2-M. Secondary Fanconi syndrome and osteoporosis (1). Renal biopsy was performed in one patient, it demonstrated mild increase in mesangia Imatrix. Careful follow-up of renal function and a more vigorous therp yappears to be warranted.

关 键 词：肝糖原累积症 肾脏病 

分 类 号：R589.102[医药卫生—内分泌] R692[医药卫生—内科学]