山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (6): 82-90.doi: 10.6040/j.issn.1671-7554.0.2024.0064
• 临床医学 • 上一篇
张迪,聂辰宇,刘继东,侯新国,陈丽
ZHANG Di, NIE Chenyu, LIU Jidong, HOU Xinguo, CHEN Li
摘要: 目的 分析两例常染色体显性骨硬化症(autosomal dominant osteopetrosis, ADO)患者的临床特点,对先证者及其家系的致病基因突变进行研究。 方法 收集两例骨硬化症患者的的临床特征及实验室检查资料进行总结分析,并复习相关文献对该病的诊治思路进行归纳总结。 结果 基因检测显示先证者1的氯离子通道蛋白7(chloride channel protein 7, CLCN7)基因第24外显子新的错义突变,即p.Gly765Cys,先证者2的CLCN7的第10外显子发现了一个已知的错义突变,即p.Arg286Trp,两位先证者均有骨量异常增高表现, 椎体呈“夹心饼”样改变,且两者均表现为血钙、磷和碱性磷酸酶水平正常,而乳酸脱氢酶和肌酸激酶水平升高。 结论 ADO患者主要表现为骨密度异常增高、骨脆性增加及容易骨折等,目前该疾病多采取对症治疗,严重时可导致贫血、血小板减少伴出血、频发感染、肝脾肿大等,通过文献复习进一步总结ADO的临床表现和诊疗特点。
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