肝豆状核变性患者骨质疏松可能原因分析以及骨关节病变的临床特点

发布时间：2018-03-26 00:35

本文选题：肝豆状核变性　切入点：T值　出处：《复旦大学》2014年博士论文

【摘要】：目的：肝豆状核变性(WD)患者骨质疏松发病率高于正常人群,但具体机制不明。本研究旨在探讨WD患者发生骨质疏松的可能原因,为治疗提供一定的理论依据。方法：本研究纳入84例经过ATP7B基因突变筛查确诊的WD患者(男性44人,女性40人)以及76名对照(男性27人,女性49人)。采用双能X线骨密度仪(DXA)测量骨密度,并测量血磷、血钙、血镁、甲状旁腺素、骨钙素、降钙素、25羟基维生素D和ALP,评估患者以及对照组的骨代谢情况。回顾性分析了WD患者的青霉胺使用情况以及WD临床表型。基于影像和实验室检验结果以及病史信息,分析了年龄、性别、临床表型、青霉胺使用剂量与骨密度以及骨代谢的关系。对于在随访过程中发现伴有骨关节疾病的患者进行了临床特征以及生化指标的总结。结果：患者组58人完成DXA检查。在WD患者中骨质疏松发病率为28.6%(15/58),而在对照组中仅为16.5%(13/79)。骨密度在WD患者中明显偏低,腰椎Z值、腰椎骨密度绝对值、股骨颈Z值、股骨颈骨密度绝对值均有显著差异。WD患者中25羟基维生素D、血磷、血钙以及ALP均显著高于对照组,提示WD患者骨代谢更加活跃。但是,未服用过青霉胺的患者与对照组的骨密度(腰椎Z值、腰椎骨密度绝对值、股骨颈Z值、股骨颈骨密度绝对值)无显著性差异,但骨代谢指标25羟基维生素D、血磷、血钙以及ALP均高于对照组。但是对于服用不同剂量青霉胺的患者,不同剂量组间均无显著差异。其他因素,如年龄、性别、临床表型与骨密度无明显关联。在WD患者中甲状旁腺激素水平升高一共4人,但均无临床表现。骨骼畸形患者均有相应受累肢体肌张力异常。结论：WD患者中骨质疏松的确较为普遍,骨密度较对照组显著偏低,骨代谢活性也相对偏高。青霉胺的使用是导致骨代谢异常的重要因素,但这种异常不受药物剂量的影响。在患者内部,年龄、性别、临床表型都对骨密度无明显影响,但年轻患者骨代谢活性较高,其余因素对骨代谢影响均不大。患者人群中甲状旁腺激素升高是一个值得关注的现象；肌张力障碍是引起局部关节变形的重要因素。
[Abstract]:Objective: the incidence of osteoporosis in patients with hepatolenticular degeneration (WD) is higher than that in normal controls, but the specific mechanism is unknown. This study was designed to investigate the possible causes of osteoporosis in patients with WD. Methods: 84 WD patients (44 males, 40 females) and 76 controls (27 males) diagnosed by ATP7B mutation screening were included in this study. Bone mineral density (BMD) was measured by dual energy X-ray absorptiometry (DXA), and blood phosphorus, calcium, magnesium, parathyroid hormone, osteocalcin were measured. Calcitonin 25 hydroxyvitamin D and ALP were used to evaluate bone metabolism in patients and controls. Penicillamine use and WD clinical phenotypes in WD patients were analyzed retrospectively. Age, sex, clinical phenotype, The relationship between the dosage of penicillamine and bone mineral density and bone metabolism. The clinical features and biochemical indexes of patients with bone and joint diseases found during follow-up were summarized. Results: 58 patients in the patient group completed DXA examination. The incidence of osteoporosis in WD patients was 28. 6 / 58%, while in the control group it was only 16. 5% 13 / 79. BMD was significantly lower in WD patients. There were significant differences in Z value of lumbar vertebra, absolute value of bone mineral density of lumbar vertebrae, Z value of femoral neck and absolute value of bone mineral density of femoral neck. 25 hydroxyvitamin D, blood phosphorus, serum calcium and ALP in patients with WD were significantly higher than those in control group. However, there was no significant difference in bone mineral density (Z value of lumbar vertebra, absolute value of bone mineral density of lumbar vertebrae, Z value of femoral neck, absolute value of bone mineral density of femoral neck) between patients without penicillamine and control group. However, the bone metabolism indexes 25 hydroxyvitamin D, blood phosphorus, serum calcium and ALP were higher than those of the control group. However, there was no significant difference between different dose groups in patients with different doses of penicillamine. There was no significant correlation between clinical phenotype and bone mineral density. In WD patients, there were 4 patients with elevated parathyroid hormone levels. But there was no clinical manifestation. All the patients with skeletal malformation had abnormal muscle tension. Conclusion Osteoporosis is common in the patients with 7% WD, and bone mineral density is significantly lower than that in the control group. The use of penicillamine is an important factor leading to abnormal bone metabolism, but this abnormality is not affected by drug dosage. However, the bone metabolism activity of young patients is higher, and the other factors have little effect on bone metabolism. The increase of parathyroid hormone is a phenomenon worthy of attention, and the dystonia is an important factor to cause local joint deformation.
【学位授予单位】：复旦大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R580;R742.4

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