丙酮酸激酶缺乏症的诊断和管理:国际专家指南

Hanny Al-Samkari, Nadine Shehata, Kelly Lang-Robertson, Paola Bianchi, Andreas Glenthøj, Sujit Sheth, Ellis J Neufeld, David C Rees, Satheesh Chonat, Kevin H M Kuo, Jennifer A Rothman, Wilma Barcellini, Eduard J van Beers, Dagmar Pospíšilová, Ami J Shah, Richard van Wijk, Bertil Glader, Maria Del Mar Mañú Pereira, Oliver Andres, Theodosia A Kalfa, Rachael F Grace
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引用次数: 0

摘要

丙酮酸激酶(PK)缺乏症是全球慢性先天性非血红素溶血性贫血最常见的病因,估计发病率为十万分之一到三十万分之一。PK 缺乏症会导致慢性溶血性贫血,对健康、生活质量和死亡率造成广泛而严重的影响。丙酮酸激酶缺乏症诊断和管理国际指南》的目标是为 PK 缺乏症患者的临床治疗制定循证指南。这些临床指南是采用 GRADE 方法和 AGREE II 框架制定的。在邀请专家时,考虑了专家的专业领域、在 PK 缺乏症方面的学术贡献以及执业国家的全球代表性。专家小组成员包括来自 10 个国家的 29 名专家医师(包括成人和儿童血液科医师及其他亚专科医师)、遗传学家、实验室专家、护士、一名指南方法论专家、PK 缺乏症患者以及护理人员。专家组确定了五个关键主题领域,对关键问题进行了优先排序,并进行了系统的文献检索,以生成用于制定建议草案的证据摘要。然后,专家小组亲自开会,根据结构化共识程序最终确定建议并进行表决。专家小组必须达成大于或等于 67% 的一致意见,才能将建议纳入最终指南。专家组就五个关键主题共 31 项建议达成了一致意见:诊断和遗传学、慢性并发症的监测和管理、贫血的标准管理、靶向和先进疗法以及特殊人群。这些新指南应有助于将最佳实践和循证 PK 缺乏症护理纳入临床实践。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines

Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency. These clinical guidelines were developed by use of GRADE methodology and the AGREE II framework. Experts were invited after consideration of area of expertise, scholarly contributions in PK deficiency, and country of practice for global representation. The expert panel included 29 expert physicians (including adult and paediatric haematologists and other subspecialists), geneticists, laboratory specialists, nurses, a guidelines methodologist, patients with PK deficiency, and caregivers from ten countries. Five key topic areas were identified, the panel prioritised key questions, and a systematic literature search was done to generate evidence summaries that were used in the development of draft recommendations. The expert panel then met in person to finalise and vote on recommendations according to a structured consensus procedure. Agreement of greater than or equal to 67% among the expert panel was required for inclusion of a recommendation in the final guideline. The expert panel agreed on 31 total recommendations across five key topics: diagnosis and genetics, monitoring and management of chronic complications, standard management of anaemia, targeted and advanced therapies, and special populations. These new guidelines should facilitate best practices and evidence-based PK deficiency care into clinical practice.

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