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斯基姆克免疫骨质发育不良症. 哥伦比亚的一个案例报告
Rafael Adrián Pacheco Orozco1, Alejandro Padilla-Guzmán2, Jessica María Forero-Delgadillo3,4
1Servicio de genética, Fundación Valle del Lili, Cali, Colombia.
Molecular genetics and metabolism reports
|September 4, 2023
概括
施密克免疫骨性形症 (SIOD) 是一种罕见的遗传性疾病. 这一案例突显了哥伦比亚儿童患有特定SMARCAL1基因突变的严重表型,包括骨,脏和神经问题.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 施密克免疫骨性形症 (SIOD) 是一种极为罕见的,由SMARCAL1基因突变引起的自体逆向遗传疾病.
- 具有骨,和免疫系统异常的特征,全球约有100例病例被报告.
相关概念视频
01:40Bone Remodeling
Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
01:29Bone Disorders
Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...