Overview of current and emerging issues in endocrinological complications of thalassaemia

摘要

Clinical advances in the treatment of thalassaemia major (TM) patients have helped to increase substantially the life expectancy of patients. The TM patients today represent the first generation of adult thalassemics. As patients enter puberty, they begin to experience a variety of endocrine abnormalities, presumably the results of chronic anaemia and tissue iron deposition from the chronic transfusion therapy. In patients with TM, the anterior pituitary gland is particularly sensitive to free radical stresses. Recent reports have documented a frequency of severe growth hormone deficiency in 13%-32% of adult patients with TM. The prevalence of impaired adrenal function in TM patients has been reported from 0 to 33%, depends on the age of the population studied, although clinical adrenal insufficiency (AI) is rare. Thyroid dysfunction has been observed in 13-60% of patients, but its severity is variable in different series. Acquired central hypothyroidism (CH) is a rare complication. ? 治疗重型地中海贫血患者的临床进展已经有助于大幅提高患者的寿命期望。 今天，重型地中海贫血患者代表成年地中海贫血的第一代。 随着病人进入青春期，他们开始经历各种内分泌功能障碍，这些障碍可能是慢性输血治疗导致的慢性贫血和组织铁沉淀结果。 重型地中海贫血患者中，脑下垂体前叶腺对自由基压力尤其敏感。 最近的报告记录了13% - 32% 的重型地中海贫血成年患者严重缺乏生长激素的频率。 尽管临床肾上腺功能不全(AI)是十分罕见。但是有报告称重型地中海贫血患者受损的肾上腺皮质功能患病率为0到33%，这个患病率取决于所研究人群的年龄。 对13% - 60%的病人进行了甲状腺机能障碍观察，但是其严重性在不同的系列中不一样。 后天中枢性甲状腺功能减退是一种罕见的并发症。