低资源环境中输血依赖型地中海贫血患者内分泌紊乱综合筛查框架。

IF 2.4 3区 医学 Q2 HEMATOLOGY
Saadia Abbas, Muhammad Osama Khan, Aahan Arif, Hafsa Majid, Lena Jafri, Aisha Shaikh, Khadija Humayun, Aysha Habib Khan, Bushra Moiz
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引用次数: 0

摘要

尽管在管理输血依赖型地中海贫血(TDT)方面取得了进展,但内分泌并发症仍然是一个主要问题,特别是在资源匮乏的环境中,诊断延误和筛查不足导致发病率较高。本研究旨在建立一个实用的、基于证据的框架,用于在资源有限的环境中筛查1-16岁TDT患者的内分泌和代谢紊乱。审查了五项主要指南,包括地中海贫血国际联合会(2025年)、英国地中海贫血标准(2023年)、意大利地中海贫血协会(2022年)、地中海贫血内分泌并发症国际网络(2013年)和奥克兰儿童医院(2012年)的指南。一个多学科专家小组分析了这些指南以及当地数据,以创建一个结构化的筛选方法。当地文献强调了显著的内分泌挑战,包括发育迟缓(50.5%,95% CI: 29.6-71.4)和性腺功能减退或青春期延迟(45.8%,95% CI: -6.5-98.2)。不太常见的问题包括甲状腺功能减退(19.9%)、甲状旁腺功能减退(12.8%)和糖代谢障碍(5.0%)。对比分析表明,所有指南都强调临床评价和实验室检测的重要性。然而,在检测小组和筛查方案方面存在差异。拟议的框架强调将临床评估作为第一步,然后在资源有限时进行有针对性的实验室检测。主要建议包括优化输血和铁螯合以减少并发症,以及针对年龄进行筛查,以便及早发现TDT患者的内分泌病变。这种基于共识的方法旨在规范TDT患者的内分泌筛查,促进早期干预和转诊。成功实施将涉及培训卫生保健提供者,以改善资源匮乏环境下的地中海贫血护理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Framework for the comprehensive screening for endocrine disorders in patients with transfusion-dependent thalassemia in low-resource settings.

Despite advances in managing transfusion-dependent thalassemia (TDT), endocrine complications continue to be a major concern, especially in low-resource settings where delayed diagnosis and inadequate screening lead to higher morbidity. This study aims to develop a practical, evidence-based framework for screening endocrine and metabolic disorders in TDT patients aged 1-16 years in resource-limited environments. Five major guidelines were reviewed, including those from the Thalassemia International Federation (2025), UK Thalassemia Standards (2023), Italian Society for Thalassemia (2022), International Network on Endocrine Complications in Thalassemia (2013), and Oakland Children's Hospital (2012). A multidisciplinary panel of experts analyzed these guidelines along with local data to create a structured screening approach. Local literature highlights significant endocrine challenges, including stunted growth (50.5%, 95% CI: 29.6-71.4) and hypogonadism or delayed puberty (45.8%, 95% CI: -6.5-98.2). Less common issues include hypothyroidism (19.9%), hypoparathyroidism (12.8%), and impaired glucose metabolism (5.0%). A comparative analysis reveals that all guidelines emphasize the importance of clinical evaluation and laboratory testing. However, there are variations in testing panels and screening protocols. The proposed framework highlights clinical assessment as the first step, followed by targeted laboratory testing when resources are limited. Key recommendations include optimizing transfusion and iron chelation to reduce complications, as well as age-specific screening for early detection of endocrinopathies in patients with TDT. This consensus-based approach seeks to standardize endocrine screening for TDT patients, promoting early intervention and referral. Successful implementation will involve training healthcare providers to improve thalassemia care in low-resource settings.

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来源期刊
Annals of Hematology
Annals of Hematology 医学-血液学
CiteScore
5.60
自引率
2.90%
发文量
304
审稿时长
2 months
期刊介绍: Annals of Hematology covers the whole spectrum of clinical and experimental hematology, hemostaseology, blood transfusion, and related aspects of medical oncology, including diagnosis and treatment of leukemias, lymphatic neoplasias and solid tumors, and transplantation of hematopoietic stem cells. Coverage includes general aspects of oncology, molecular biology and immunology as pertinent to problems of human blood disease. The journal is associated with the German Society for Hematology and Medical Oncology, and the Austrian Society for Hematology and Oncology.
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