Abstract：
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care. However, gaps remain in effectively bridging scientific discoveries to clinical practice and disseminating the latest knowledge and best practices to providers. Following the publication of the first international consensus in 2008, advances in our understanding of the genetics, natural history, and clinical management of DBA have strongly supported the need for new consensus recommendations. In 2014 in Freiburg, Germany, a panel of 53 experts including clinicians, diagnosticians, and researchers from 27 countries convened. With support from patient advocates, the panel met repeatedly over subsequent years, engaging in ongoing discussions. These meetings led to the development of new consensus recommendations in 2024, replacing the previous guidelines. To account for the diverse phenotypes including presentation without anaemia, the panel agreed to adopt the term DBA syndrome. We propose new simplified diagnostic criteria, describe the genetics of DBA syndrome and its phenocopies, and introduce major changes in therapeutic standards. These changes include lowering the prednisone maintenance dose to maximum 0·3 mg/kg per day, raising the pre-transfusion haemoglobin to 9-10 g/dL independent of age, recommending early aggressive chelation, broadening indications for haematopoietic stem-cell transplantation, and recommending systematic clinical surveillance including early colorectal cancer screening. In summary, the current practice guidelines standardise the diagnostics, treatment, and long-term surveillance of patients with DBA syndrome of all ages worldwide.
摘要：
Diamond-Blackfan贫血(DBA),80多年前首次描述，是一种先天性红细胞生成障碍，有先天缺陷和癌症的倾向。尽管科学进步,这种慢性，衰弱，限制生命的疾病继续导致大量的身体，心理,以及对患者及其家人的经济损失。受影响患者的高度复杂的医疗需求需要专业知识和多学科护理。然而,在有效地将科学发现与临床实践联系起来以及向提供者传播最新知识和最佳实践方面仍然存在差距。继2008年第一个国际共识发表后，我们对遗传学的理解有了进展，自然史,和DBA的临床管理强烈支持需要新的共识建议.2014年在弗莱堡，德国,由包括临床医生在内的53名专家组成的小组，诊断医生,来自27个国家的研究人员召集。在患者倡导者的支持下，小组在随后的几年中多次开会，参与正在进行的讨论。这些会议导致在2024年制定了新的共识建议，取代了以前的准则。考虑到不同的表型，包括没有贫血的表现，专家组同意采用DBA综合征这一术语.我们提出了新的简化诊断标准，描述DBA综合征的遗传学及其表型，并引入治疗标准的重大变化。这些变化包括将泼尼松维持剂量降低至每天最大0·3mg/kg，将输血前血红蛋白提高到9-10g/dL，与年龄无关，建议早期积极螯合，扩大造血干细胞移植的适应症，并建议进行系统的临床监测，包括早期结直肠癌筛查。总之,当前的实践指南标准化了诊断，治疗,并对全世界所有年龄段的DBA综合征患者进行长期监测。
