Sagliker综合征颅颌面畸形初步研究

Primary investigation of facial deformities in Sagliker syndrome

目的 初步探讨严重继发性甲状旁腺功能亢进症(secondary hyperparathyroidism,SHPT)患者合并Sagliker综合征的发病相关因素,并测量分析颅颌面畸形特征。方法 选择由中日友好医院肾内科和口腔医学中心确诊的SHPT合并Sagliker综合征患者8名,单纯SHPT患者26名,比较2组患者在性别、年龄、透析龄及相关血液指标等方面的差异,对有关联机理的血液指标进行线性回归分析。同时选择8名Sagliker患者,单纯SHPT患者8名,常规进行头颅侧位片定位拍摄和测量。结果 Sagliker综合征患者男/女比例为0.6:1、平均年龄为44.38岁、平均透析龄为145月,单纯SHPT患者平均年龄为51.15岁、男/女比例为1:1、平均透析龄为125月,2组患者在性别、年龄均值和透析龄均值方面有统计学差异(P<0.05);Sagliker综合征患者的ALP均值为1184U/L、全段甲状旁腺激素(iPTH)均值为2109pg/ml,单纯SHPT患者的ALP为491U/L、iPTH为2371pg/ml,2组患者在碱性磷酸酶(ALP)均值上有显著统计学差异(P<0.01),在iPTH均值上没有统计学差异(P>0.05);头影测量结果显示Sagliker综合征患者,上颌骨整体体积变大,矢状方向和垂直方向明显增大;下颌骨前部垂直方向明显增加,其余部分没有明显变化;软组织变化和颌骨变化基本一致;牙齿未出现明显的代偿性移位。结论 性别,年龄、透析龄等因素可能是Sagliker综合征的危险因素。Sagliker综合征患者颅颌面特定部位发生特异性变化。Sagliker综合征患者体内可能存在某种机制,使得颅颌面部畸形发展重于全身其他部位骨骼,表现为ALP水平远高于单纯SHPT患者。

Objective To analyze the pathogenesis factors in Sagliker Syndrome (SS) associated with severe secondary hyperparathyroidism (SHPT), and to characterize and measure the craniofacial deformities in SS. Methods We recruited 8 SS patients and 26 simple SHPT patients diagnosed in the Department of Nephrology and Department of Dental Medical Center, China-Japan Friendship Hospital. Gender, age, cause of SHPT, dialysis age and blood biochemical parameters were compared between SS patients and simple SHPT patients. Liner regression was used to disclose the relationship between blood biochemical parameters and SS. We also selected 8 SS patients and 8 simple SHPT patients to characterize their craniofacial morphology by cephalometry on skull radiographic images. Results The male/female ratio was 0.6:1 and 1:1 (P<0.05), the average age was 44.38 and 51.15 years (P<0.05), and the average dialysis vintage was 145 and 125 months (P<0.05), the average ALP was 1184 U/L and 491 U/L (P<0.01), and the average iPTH was 2109 pg/ml and 2371 pg/ml (P<0.05), in SS patients and simple SHPT patients, respectively. In SS patients, the maxillary body enlarged especially in sagittal and vertical directions, the anterior part of mandibula increased in the vertical direction without any other changes in this bone, and the soft tissues around mandibula changed compatible with the osseous deformities but without compensatory transposition of teeth. Conclusions Gender, age, dialysis age and several blood biochemical abnormalities may be the risk factors for SS. Craniofacial changes are found exclusively at specific sites in SS. Several yet unknown mechanisms drive higher serum ALP level and osseous deformities predominantly in craniofacial sites rather than in other skeletons in SS.