背景:与白人相比,APOL1变异体在黑人中导致ESKD的发病率明显较高。在患有肾病的非洲血统患者中对这些变异进行基因检测并不常见,目前尚无针对APOL1相关性肾病的特异性治疗或管理方案。
方法:多学科,种族多样性的14名专家和患者倡导者参与了Delphi共识过程,为临床医生提供实用指导,这些临床医生照顾可能患有APOL1相关性肾病的患者.共识小组成员参加了三轮匿名投票,以制定与以下内容有关的共识声明:(1)咨询,基因分型,和诊断;(2)疾病的认识和教育;和(3)当治疗可用时,对未来APOL1相关肾病的管理的愿景。对MEDLINE和Embase数据库进行了系统的文献检索,以确定2009年1月1日至2020年7月14日发表的相关证据。
结果:共识小组达成了55项共识声明,涵盖人口统计学和临床因素等主题,表明患者患有APOL1相关性肾病,以及咨询的关键考虑因素,测试,和当前临床实践中的诊断。他们达成共识,认为有必要提高主要利益相关者对肾脏疾病和APOL1相关肾病的种族健康差异的认识,以及成功的教育计划的特征,以提高患者社区的认识。该小组还强调了对特定治疗的未满足需求,并商定了在治疗可用时管理这些患者的最佳实践。
结论:由多学科专家和患者倡导者组成的小组就可能患有APOL1相关性肾病的患者的护理制定了基于共识的指导。
BACKGROUND: APOL1 variants contribute to the markedly higher incidence of ESKD in Blacks compared with Whites. Genetic testing for these variants in patients with African ancestry who have nephropathy is uncommon, and no specific treatment or management protocol for APOL1-associated nephropathy currently exists.
METHODS: A multidisciplinary, racially diverse group of 14 experts and patient advocates participated in a Delphi
consensus process to establish practical guidance for clinicians caring for patients who may have APOL1-associated nephropathy.
Consensus group members took part in three anonymous voting rounds to develop
consensus statements relating to the following: (1) counseling, genotyping, and diagnosis; (2) disease awareness and education; and (3) a vision for management of APOL1-associated nephropathy in a future when treatment is available. A systematic literature search of the MEDLINE and Embase databases was conducted to identify relevant evidence published from January 1, 2009 to July 14, 2020.
RESULTS: The
consensus group agreed on 55
consensus statements covering such topics as demographic and clinical factors that suggest a patient has APOL1-associated nephropathy, as well as key considerations for counseling, testing, and diagnosis in current clinical practice. They achieved
consensus on the need to increase awareness among key stakeholders of racial health disparities in kidney disease and of APOL1-associated nephropathy and on features of a successful education program to raise awareness among the patient community. The group also highlighted the unmet need for a specific treatment and agreed on best practice for management of these patients should a treatment become available.
CONCLUSIONS: A multidisciplinary group of experts and patient advocates defined
consensus-based guidance on the care of patients who may have APOL1-associated nephropathy.