遗传性骨硬化症临床诊疗专家共识

Expert consensus on clinical diagnosis and treatment of osteopetrosis

骨硬化症是一组罕见的遗传性代谢性骨病,主要由氯化物通道7(chloride channel 7, CLCN7)或T细胞免疫调节因子1(T cell immune regulator 1,TCIRG1)等基因突变引起破骨细胞功能缺陷或数量减少,造成骨吸收和重建障碍,导致全身性骨硬化和骨脆性增加,引发病理性骨折;严重者可出现颅神经病变、肝脾肿大、造血衰竭甚至死亡。根据临床严重程度,遗传性骨硬化症分为恶性型、中间型以及良性型。异基因造血干细胞移植是目前治疗恶性型和部分中间型骨硬化症的有效方法,对于良性型则以支持治疗为主。多学科合作综合治疗模式可提高骨硬化症患者的长期生存质量。

Osteopetrosis is a group of rare metabolic bone diseases.Mutations in genes such as chloride channel 7(CLCN7)or T cell immune regulator 1(TCIRG1)can cause functional defects or decreases in the number of osteo-clasts,which can detrimentally affect bone resorption and remodeling and lead to generalized bone sclerosis,increased bone fragility and risk of pathologic fractures;severe cases may encounter with cranial neuropathies,hepatosplenomegaly,pancytopenia and even death.According to the clinical severity and inheritance pattern,osteopetrosis has been categorized descriptively into malignant,intermediate,and benign types.Allogeneic hematopoietic stem cell transplantation is an ef-fective treatment for malignant and some intermediate osteopetrosis.For the benign form,treatment is predominantly sup-portive.Optimal care of patients with osteopetrosis involves a multidisciplinary team,which is beneficial to improve the long-term quality of life for patients with osteopetrosis.