Lala R, Chiabotto P, Di Stefano M, Isaia G C, Garofalo F, Piga A
Department of Paediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy.
J Pediatr Endocrinol Metab. 1998;11 Suppl 3:785-90.
Twenty-seven thalassaemic patients (13 F, 14 M, aged 8.1-14.9 yr), regularly transfused and chelated with desferrioxamine (30-40 mg/kg/day) were studied. Every patient was submitted to auxological evaluations, dual X-ray absorptiometry to measure bone mineral density (BMD), and to the determination of bone metabolic markers of osteoclastic activity (total urinary hydroxylysylpyridinoline crosslinks, carboxyterminal pyridinoline crosslinked telopeptide of type I collagen [ICTP]) and of osteoblastic activity (bone Gla protein [BGP] and carboxyterminal propeptide of type I procollagen [PIPC]). The evaluations were repeated after 1 year, during which 13 patients continued desferrioxamine chelation while 14 underwent deferiprone chelation (75 mg/kg/day in 3 doses). The data demonstrate widespread bone alterations consisting of osteoporosis, growth failure and bone age delay. Lumber spine (L2-L4) BMD areal values (Z score) inversely correlated with age, as did height SDS of both male and female patients, indicating osteoporosis progressing with age in parallel with growth insufficiency. No clear-cut alterations in bone mineral metabolism were found in basal state and after 1 year. Extensive MR imaging studies are needed to define the contribution of residual bone marrow hyperplasia to thalassaemic osteopathy suggested by subtle radiological signs as enlargement of bone marrow cavities with thinning of the cortical bone and abnormalities of the trabecules of spongy bone.
对27例地中海贫血患者（13例女性，14例男性，年龄8.1 - 14.9岁）进行了研究，这些患者定期输血并接受去铁胺（30 - 40mg/kg/天）螯合治疗。每位患者均接受了体格评估、采用双能X线吸收法测量骨密度（BMD），并测定了破骨细胞活性（尿总羟赖氨酸吡啶交联物、I型胶原羧基末端吡啶交联端肽[ICTP]）和成骨细胞活性（骨钙素[BGP]和I型前胶原羧基末端前肽[PIPC]）的骨代谢标志物。1年后重复进行评估，在此期间，13例患者继续接受去铁胺螯合治疗，而14例患者接受去铁酮螯合治疗（75mg/kg/天，分3次给药）。数据表明存在广泛的骨骼改变，包括骨质疏松、生长发育迟缓以及骨龄延迟。腰椎（L2 - L4）的BMD面积值（Z评分）与年龄呈负相关，男性和女性患者的身高标准差评分（SDS）也是如此，表明骨质疏松随着年龄增长与生长不足同时进展。在基线状态和1年后均未发现骨矿物质代谢有明显改变。需要进行广泛的磁共振成像研究，以确定残余骨髓增生对地中海贫血性骨病的影响，这种影响由细微的放射学征象提示，如骨髓腔扩大、皮质骨变薄以及松质骨小梁异常。
