以重度贫血、顽固性低白蛋白血症和高凝状态为临床特征的原发性高草酸尿症1例  

Primary hyperoxaluria characterized by severe anemia,intractable hypoalbuminemia and hypercoagulability:a case report

作　　者：李作林[1] 王彬 杨艳 刘玉秋 倪海锋[1] 谢筱彤 杨钧岚 张晓良[1] Li Zuolin;Wang Bin;Yang Yan;Liu Yuqiu;Ni Haifeng;Xie Xiaotong;Yang Junlan;Zhang Xiaoliang(Department of Nephrology,Zhong Da Hospital,Southeast University Institute of Nephrology,Southeast University,Nanjing 210009,China)

机构地区：[1]东南大学附属中大医院肾内科、东南大学肾脏病研究所,南京210009

出　　处：《中华肾脏病杂志》2024年第4期305-309,共5页Chinese Journal of Nephrology

基　　金：国家自然科学基金(82000648);江苏省自然科学基金(BK20200363);江苏省重点研发计划社会发展项目(BE2021737);南京市卫生科技发展专项(YKK20237,YKK21268)。

摘　　要：原发性高草酸尿症(primary hyperoxaluria,PH)是一种罕见的常染色体隐性遗传病,部分患者就诊时已进入肾衰竭期,需接受肾脏替代治疗。该文报告1例以重度贫血、顽固性低白蛋白血症和高凝状态为临床特征的PH并维持性血液透析病例。经增加血液透析次数、加强超滤、纠正贫血、补铁、抗凝、补充白蛋白和纠正钙磷代谢紊乱等强化对症支持治疗联合硫代硫酸钠治疗后,PH患者病情显著好转。Primary hyperoxaluria is a rare autosomal recessive hereditary disease.Some patients are diagnosed with end-stage renal failure at their first visits,and require receiving maintenance renal replacement therapy.The paper reported a maintenance hemodialysis patient with primary hyperoxaluria characterized by severe anemia,intractable hypoalbuminemia and hypercoagulability.After intensively supportive treatment including increasing the frequency of hemodialysis,strengthening ultrafiltration,correcting anemia,iron supplementation,anticoagulation,albumin supplementation and correcting calcium/phosphorus metabolism disorder,and incombination with sodium thiosulfate treatment,the patient's condition improved significantly.

关 键 词：高草酸尿症 原发性 贫血 低白蛋白血症 高凝状态 

分 类 号：R692[医药卫生—泌尿科学]