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

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.