Autosomal dominant osteopetrosis type Ⅱ: 2 cases report and literature review
10.3760/cma.j.cn311282-20210623-00395-1
- VernacularTitle:常染色体显性遗传骨硬化症Ⅱ型2例报告并文献复习
- Author:
Pengxin ZHANG
1
;
Jia LI
;
Hongmei LI
Author Information
1. 中国人民解放军南部战区总医院内分泌科，广州 510010
- Keywords:
Autosomal dominant osteopetrosis;
Bone resorption disorder;
CLCN7 gene;
Fractures
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(2):156-160
- CountryChina
- Language:Chinese
-
Abstract:
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.
