中华骨质疏松和骨矿盐疾病杂志2023，Vol.16Issue(5)：413-428,16.DOI:10.3969/j.issn.1674-2591.2023.05.001
遗传性骨硬化症临床诊疗专家共识
Expert consensus on clinical diagnosis and treatment of osteopetrosis
摘要
Abstract
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.关键词
骨硬化症,遗传/致病基因/破骨细胞/造血干细胞移植/多学科合作Key words
osteopetrosis,genetic/pathogenic gene/osteoclast/hematopoietic stem cell transplantation/multi-disciplinary cooperation分类
医药卫生引用本文复制引用
中华医学会骨质疏松和骨矿盐疾病分会,章振林,陈静..遗传性骨硬化症临床诊疗专家共识[J].中华骨质疏松和骨矿盐疾病杂志,2023,16(5):413-428,16.基金项目
国家重点研发计划(2018YFA0800801) （2018YFA0800801）
国家自然科学基金(81770872) （81770872）
上海市内分泌代谢疾病研究中心(2022ZZ01002) （2022ZZ01002）
