肾移植术后Ⅰ型原发性高草酸尿症复发致移植肾功能不全的多学科综合诊疗  

Multi-disciplinary team on renal allograft dysfunction induced by recurrence of primary hyperoxaluria type Ⅰ after renal transplantation

作　　者：王於尘 严紫嫣 邓文锋[1] 夏仁飞[1] 曾文利[1] 罗佳[1] 徐健[1] 苗芸[1] Wang Yuchen;Yan Ziyan;Deng Wenfeng;Xia Renfei;Zeng Wenli;Luo Jia;Xu Jian;Miao Yun(Department of Organ Transplantation,Nanfang Hospital of Southern Medical University,Guangzhou 510515,China)

机构地区：[1]南方医科大学南方医院器官移植科,广州510515 [2]南方医科大学第一临床医学院,广州510515

出　　处：《器官移植》2021年第1期77-82,共6页Organ Transplantation

基　　金：国家自然科学基金(82070770);广东省自然科学基金(2020A1515010674);广州市科技计划项目(201803010109);南方医院院长基金(2018B009、2018C003);大学生创新创业训练计划项目(202012121046、X202012121239)。

摘　　要：目的探讨肾移植术后Ⅰ型原发性高草酸尿症(PH)复发的临床特点和多学科综合诊疗(MDT)的经验。方法对1例接受同种异体肾移植手术后不明原因移植肾功能短期内迅速下降的病例进行MDT讨论,总结MDT在诊断罕见遗传性疾病以及提高肾移植受者长期存活中的作用。结果经MDT讨论,患者确诊为Ⅰ型PH复发,排除排斥反应后恢复常规免疫抑制方案,嘱大量饮水,予优质蛋白和低磷饮食、维生素B6、钙剂等保守治疗措施并积极防治并发症。患者移植肾功能恶化延缓,但仍在肾移植术后5个月恢复规律血液透析至投稿日。结论肾移植术后Ⅰ型PH复发较为罕见,临床主要表现为复发性肾结石,移植肾功能下降,且并发症多,患者预后不良。通过MDT讨论患者病情,明确诊断,确定最佳治疗方案,延缓了病情进展,改善了患者预后。Objective To investigate the clinical characteristics and the experience of multi-disciplinary team(MDT) on recurrence of primary hyperoxaluria(PH) type Ⅰ after renal transplantation. Methods One case presenting with unexplained rapid decline of renal allograft function after allogeneic renal transplantation was discussed by MDT. The role of MDT in diagnosing rare hereditary diseases and improving the long-term survival of renal transplant recipients was summarized. Results After MDT consultation, the patient was diagnosed with recurrence of PH type Ⅰ. Routine immunosuppressive regimen was initiated after the exclusion of rejection. The patient was instructed to drink a large quantity of water, and given with high-quality protein and low-phosphorus diet, vitamin B6, calcium and other conservative therapies to actively prevent and treat postoperative complications. The deterioration of renal graft function was delayed. Nevertheless, regular hemodialysis was resumed at 5 months after renal transplantation until the submission date of this manuscript. Conclusions Recurrence of PH type Ⅰ after renal transplantation is relatively rare. The main clinical manifestations are recurrent kidney stones and decreased renal function with multiple complications and poor prognosis. The condition of the patient is consulted by MDT for confirming the diagnosis, determining the optimal treatment scheme, delaying the progression and improving the clinical prognosis.

关 键 词：肾移植 原发性高草酸尿症(PH) 多学科综合诊疗(MDT) 终末期肾病 移植肾功能不全 丙氨酸乙醛酸转氨酶(AGT) 基因突变 遗传学筛查 

分 类 号：R617[医药卫生—外科学] R596[医药卫生—临床医学]