常染色体显性遗传骨硬化症Ⅱ型2例报告并文献复习

Autosomal dominant osteopetrosis type Ⅱ:2 cases report and literature review

骨硬化症是一种罕见的遗传性骨代谢疾病,以骨吸收障碍导致的骨量及密度增加为主要特征,任何涉及破骨细胞成熟或功能的异常突变均会导致骨硬化症的发生。临床上,常染色体显性遗传骨硬化症Ⅱ型(autosomal dominant osteopetrosis typeⅡ,ADO-Ⅱ)的患病率高于其他类型骨硬化症,病变可累及内分泌、骨骼、血液、神经、耳鼻喉、口腔等全身多系统,其疾病进展隐匿,容易被忽视,尚没有确切的治疗方案。本文总结了2例ADO-Ⅱ型患者的临床特点、检查资料和诊治过程,分析该病的全身多系统症状、发病机制及治疗原则,以提高对ADO-Ⅱ型患者管理及治疗的认识。

Osteosclerosis is a rare hereditary bone metabolic disease,characterized by increased bone mass and density caused by bone resorption disorders,and any abnormal mutation involving osteoclast maturation or function will lead to the occurrence of osteopetrosis.Clinically,the prevalence of autosomal dominant osteopetrosis type Ⅱ(ADO-Ⅱ)is higher than that of other types of osteopetrosis,which involves multiple systems such as endocrine,bone,blood,nerve,ear-nose-throat,and oral cavity.Disease progression is insidious and easily overlooked,and there is no standard treatment.This article summarizes the clinical characteristics,examination data,diagnosis and treatment process of the two patients,analyzes multi-system symptoms,pathogenesis and treatment principles of the disease to improve the management of patients with ADO-Ⅱ.