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β地中海贫血患者年龄相关医学并发症的管理

Management of age-associated medical complications in patients with β-thalassemia.

作者信息

Motta Irene, Mancarella Marta, Marcon Alessia, Vicenzi Marco, Cappellini Maria Domenica

机构信息

Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

出版信息

Expert Rev Hematol. 2020 Jan;13(1):85-94. doi: 10.1080/17474086.2020.1686354. Epub 2019 Nov 12.

DOI:10.1080/17474086.2020.1686354
PMID:31661637
Abstract

: β-Thalassemia syndromes are among the most common monogenic disorders worldwide. Clinically, on the basis of the severity of the phenotype, β-thalassemias are classified into two groups: transfusion-dependent thalassemia (TDT) and non-transfusion-dependent thalassemia (NTDT). In the last few decades, considerable advances in understanding the pathophysiology of β-thalassemia have significantly improve d patient management, which has led to an increase in the life span of these subjects. However, new complications associated with aging are emerging, and β-thalassemias are becoming a growing concern for the health care systems.: The present review focused on the age-related complications in adults with β-thalassemia. Among the cardiovascular diseases, which remain a major cause of morbidity, pulmonary hypertension and arrhythmias are exhibiting increased prevalence. Adrenal insufficiency and bone disease are emerging as endocrinological complications that require proper treatment. Moreover, age-related complications observed in the general population, including cancers and renal disease, should not be neglected.: The present study reviews the management of above-stated complications in adults with β-thalassemia based on the experience of a referral center. It is noteworthy that clinical trials in this context are limited, and the expert opinion offered in the present report stems mainly from direct clinical experience.

摘要

β地中海贫血综合征是全球最常见的单基因疾病之一。临床上,根据表型的严重程度,β地中海贫血可分为两组:输血依赖型地中海贫血(TDT)和非输血依赖型地中海贫血(NTDT)。在过去几十年中,对β地中海贫血病理生理学的理解取得了显著进展,极大地改善了患者管理,这使得这些患者的寿命得以延长。然而,与衰老相关的新并发症正在出现,β地中海贫血正日益成为医疗保健系统关注的焦点。

本综述聚焦于成人β地中海贫血患者与年龄相关的并发症。在心血管疾病中,它们仍然是发病的主要原因,肺动脉高压和心律失常的患病率正在上升。肾上腺功能不全和骨病正作为需要适当治疗的内分泌并发症出现。此外,在普通人群中观察到的与年龄相关的并发症,包括癌症和肾脏疾病,也不应被忽视。

本研究基于一家转诊中心的经验,综述了成人β地中海贫血患者上述并发症的管理。值得注意的是,这方面的临床试验有限,本报告中提供的专家意见主要源于直接的临床经验。

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