帕米德罗纳特反应在一个新型双基因CREB3L1基因突变相关的骨质发生不完美:一个案例报告
Agnes Selina1,2,3, Madhavi Kandagaddala4, Vrisha Madhuri1,2,5
1Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India.
JBJS case connector
|July 26, 2024
概括
这项研究确定了一种新的CREB3L1基因变异,导致骨质发育不完美 (OI). 用帕米德罗纳酸治疗和手术改善了患者的骨密度,骨折率和运动能力.
科学领域:
- 遗传学 遗传学 是一个
- 整形外科 整形外科 整形外科
- 儿科 儿科 儿科
背景情况:
- 骨质变生不完美 (Osteogenesis imperfecta,简称OI) 是一种遗传性疾病,其特征是骨易碎.
- 在原或相关基因中不断发现新的遗传变异.
- 了解OI的遗传基础对于向治疗至关重要.
研究的目的:
- 报告CREB3L1基因的新型遗传变异与骨质发生不完美相关.
- 描述这种新型变种的青少年患者的临床表现和治疗反应.
主要方法:
- 一名15岁的男性患者有6年的OI病史被基因检测.
- 整体外基因组测序在CREB3L1基因中发现了一种新的误解变异 (c.925C>T,p.Arg309Cys).
- 患者接受了帕米德罗纳特治疗,并接受了下肢急诊手术.
主要成果:
- 在CREB3L1中,新型双误解变异c.925C>T,p.Arg309Cys被确定为OI的原因.
- 帕米德罗纳酸治疗导致骨矿物质密度增加和骨折率降低.
- 手术干预 (下肢急诊) 改善了运动能力,在双酸盐戒断时显著下降,随后在重新开始时有所改善.
结论:
- 一种新的CREB3L1基因变异与骨质生成不完美有关.
- 双酸盐治疗,特别是帕米德罗纳特,在改善这个患者的骨健康和运动方面表现出有效性.
- 整形手术进一步增强了管理OI并发症的功能结果.
相关概念视频
01:31Osteoclasts in Bone Remodeling
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
01:27Compact Bone
Most bones contain compact and spongy osseous tissue, but their distribution and concentration vary based on the bone's overall function.
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...
Compact bone, also called cortical bone, is the denser, stronger of the two types of bone tissue. It is found under the periosteum and in the diaphyses of long bones, where it provides support and protection. The microscopic structural unit of compact bone is called an osteon, or haversian system. Each osteon is composed of concentric rings of calcified...
01:29Bone Formation by Intramembranous Ossification
Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
01:27Fractures: Bone Repair
Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the procedure...
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the procedure...
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...
01:31Bone Remodeling and Repair
Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...