De Sanctis Vincenzo, Soliman Ashraf T, Elsedfy Heba, Yassin Mohamed, Canatan Duran, Kilinc Yurdanur, Sobti Praveen, Skordis Nicos, Karimi Mehran, Raiola Giuseppe, Galati Maria Concetta, Bedair Elsaid, Fiscina Bernadette, El Kholy Mohamed
Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
Department of Pediatrics, Division of Endocrinology, Hamad General Hospital Doha, Qatar.
Pediatr Endocrinol Rev. 2013 Dec;11(2):167-80.
In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia. The pathogenesis of TM-induced osteoporosis is multifactorial. Genetic and acquired factors play role in demineralization of bones in thalassemia. Osteoporosis is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. The significant predictors of fracture prevalence include male gender, hypothyroidism, age, lack of spontaneous puberty in females, active hepatitis, heart disease and diabetes. The early identification of osteopenia and osteoporosis is of paramount importance. This is because delayed diagnosis and inadequate treatment have led to severe osteoporosis, skeletal abnormalities, fractures, spinal deformities, nerve compression and growth failure. dequate hormonal replacement, has been posponed, Effective iron chelation adequate hormonal replacement, improvement of hemoglobin levels, calcium and vitamin D administration and physical activity are currently the main measures for the management of the disease. The use of bisphosphonates in TM patients with osteoporosis is increasing and their positive effect in improving bone mineral density is encouraging. The recommendations of the International Network on Growth Disorders and Endocrine Complications in Thalassaemia (I-CET) for diagnosis and management of osteoporosis in TM are also briefly included in this review.
近年来，重型地中海贫血（TM）患儿、青少年及青年成人的骨质减少/骨质疏松问题备受关注，因为尽管进行了充分的输血和铁螯合治疗，但这仍是发病的一个主要原因。报道显示，即使是治疗良好的TM患者，骨质疏松的发生率也在13.6%至50%之间，另有45%的患者存在骨质减少。TM所致骨质疏松的发病机制是多因素的。遗传和后天因素在 thalassemia 的骨质脱矿中起作用。骨质疏松的特征是骨量低和骨结构破坏，导致骨强度降低和骨折风险增加。骨折发生率的重要预测因素包括男性、甲状腺功能减退、年龄、女性缺乏自然青春期、活动性肝炎、心脏病和糖尿病。早期识别骨质减少和骨质疏松至关重要。这是因为诊断延迟和治疗不充分会导致严重骨质疏松、骨骼异常、骨折、脊柱畸形、神经受压和生长发育不良。充分的激素替代治疗被推迟，有效的铁螯合、充分的激素替代、血红蛋白水平的改善、钙和维生素D的补充以及体育活动是目前治疗该疾病的主要措施。双膦酸盐在患有骨质疏松症的TM患者中的使用正在增加，其在改善骨矿物质密度方面的积极作用令人鼓舞。本文还简要介绍了地中海贫血生长障碍和内分泌并发症国际网络（I-CET）关于TM患者骨质疏松症诊断和管理的建议。
