合并颌骨骨髓炎的石骨症家系临床特点及遗传学特征分析

发布时间：2018-06-16 08:10

本文选题：石骨症 + 颌骨骨髓炎　；参考：《实用医学杂志》2014年14期

【摘要】：目的:分析合并颌骨骨髓炎的石骨症家系的临床特点及遗传特征。方法:对在山东省青岛市发现的1个家系3例合并颌骨骨髓炎患者的临床特点进行分析,调查家系成员,绘制遗传图谱并进行遗传学分析。结果:该石骨症家系成员4代共45例,每代均有患者出现,共发现6例石骨症患者。患者均在青少年以后出现临床症状,首发症状出现时年龄跨度较大,从12~62岁不等;家系中所有患者血常规、血生化及肝、脾超声检查在正常范围;先证者以颌骨骨髓炎为首诊症状,老年患者均合并有颌骨骨髓炎。结论:该石骨症家系存在着临床表现和遗传特性的异质性,老年时发生颌骨骨髓炎为其共同临床表现;根据其临床表现及家系特点分析,该家系符合常染色体显性遗传方式,本研究为相关致病基因的筛查、定位奠定基础。
[Abstract]:Objective: to analyze the clinical and genetic characteristics of osteolithiasis associated with osteomyelitis. Methods: the clinical characteristics of 3 patients with osteomyelitis of jaw bone were analyzed in a family found in Qingdao, Shandong Province. The family members were investigated, genetic map was drawn and genetic analysis was carried out. Results: there were 45 patients in 4 generations of the family members of this disease, and 6 patients were found in each generation. All the patients developed clinical symptoms after adolescence, and the initial symptoms ranged from 1262.Blood routine examination, blood biochemistry, liver, spleen ultrasound examination were in the normal range. The first symptom of the proband was osteomyelitis of the jaws, and the elderly patients had osteomyelitis of the jaws. Conclusion: the clinical manifestations and genetic characteristics of the pedigree with osteomyelitis in the jaws are the common clinical manifestations, according to the clinical manifestations and family characteristics, the pedigree is in accordance with the autosomal dominant inheritance pattern. This study lays a foundation for screening and locating related pathogenic genes.
【作者单位】：青岛大学附属医院口腔颌面外科;
【分类号】：R782.32;R681

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