Department of Endocrinology and Institute of Haematology, Royal Prince Alfred Hospital and Institute of Obesity Nutrition and Exercise, University of Sydney, Sydney, New South Wales, Australia.
Intern Med J. 2010 Oct;40(10):689-96. doi: 10.1111/j.1445-5994.2010.02254.x.
Thalassaemia major is a common and serious medical problem worldwide that is associated with a range of complications, including effects on multiple endocrine pathways. Minimizing or preventing comorbidities is important for these individuals who need life-long multidisciplinary care and treatment. However, there are limited overviews of the endocrine complications associated with this illness, nor any consensus regarding management guidelines.
A retrospective cohort analysis of β-thalassaemia patients attending an ambulatory transfusion clinic at Royal Prince Alfred Hospital was conducted from June 2008.
All of our subjects (n=29) had at least one endocrinopathy present with 16 patients (55%) having three or more (≥3) endocrinopathies. Hypogonadism was the most prevalent followed by osteoporosis and growth failure (less than 3rd centile) with a frequency of 16/29 (55%), 14/29 (48%) and 10/29 (35%) patients respectively. Those with more endocrinopathies (≥3) had a longer duration of transfusion therapy when compared with those with fewer endocrinopathies.
A summary of our clinical guidelines, which have been used to monitor and manage these complications, is presented along with a discussion on the results and pathophysiology of the associated endocrinopathies.
重型地中海贫血是一种常见且严重的全球性医学问题，与多种并发症相关，包括对多种内分泌途径的影响。对于这些需要终身多学科护理和治疗的患者来说，减轻或预防合并症非常重要。然而，目前对于与这种疾病相关的内分泌并发症，还没有全面的综述，也没有关于管理指南的共识。
对 2008 年 6 月在皇家阿尔弗雷德王子医院门诊输血诊所就诊的β-地中海贫血患者进行了回顾性队列分析。
我们所有的研究对象（n=29）都至少有一种内分泌疾病，其中 16 名患者（55%）有三种或三种以上（≥3）的内分泌疾病。性腺功能减退症最为常见，其次是骨质疏松症和生长发育迟缓（低于第 3 百分位），分别有 16/29（55%）、14/29（48%）和 10/29（35%）的患者。与内分泌疾病较少的患者相比，患有更多内分泌疾病（≥3）的患者的输血治疗时间更长。
我们提出了一份临床指南的总结，用于监测和管理这些并发症，并对相关内分泌疾病的结果和病理生理学进行了讨论。
