骨硬化症
Osteopetrosis Symptoms, Causes, Types, & Risk Factors · 别称:大理石骨病
骨骼🟡建议就医
罕见遗传病,骨骼异常致密变脆、易骨折并压迫神经。
受累部位 / 系统
骨骼
高发人群
有家族史者通过遗传基因获得
⚠️ 出现以下情况请尽快就医
- 视力或听力下降
- 反复骨折
骨骼遗传罕见慢性
常见症状
骨折鼻塞视力或听力改变
本内容仅供科普参考,不能替代医生的诊断、检查或治疗。
详细资料(NIAMS 英文原文)
Osteopetrosis is group of a rare disorders that cause bones to grow abnormally and become overly dense. When bones become overly dense, they are brittle and can fracture (break) easily. In addition, bones may be misshapen and large, causing other problems in the body. For example, changes to the bone size and density of the skull can cause pressure on nerves leading to vision loss, hearing loss, and paralysis of the facial muscles.
As bone increases in size, the amount of space for the bone marrow (soft, sponge-like tissue in the center of most bones that produces blood cells) becomes crowded. Decreases in the amount of space for bone marrow can lead to low levels of cells in the body that fight infection, carry oxygen to the body’s cells, or control bleeding.
Osteopetrosis are genetic diseases that a child inherits from their parents. The disorder may be mild to severe, and symptoms may appear early in infancy or later in adulthood. The treatment options depend on the type of osteopetrosis the person has.
来源: https://www.niams.nih.gov/health-topics/osteopetrosis (NIAMS,公共领域)