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颌骨骨遗传性疾病或骨营养不良——综述

Genetic Disorders of Bone or Osteodystrophies of Jaws-A Review.

作者信息

Vammi Sirisha, Bukyya Jaya Lakshmi, Ck Anulekha Avinash, Tejasvi M L Avinash, Pokala Archana, Hp Chanchala, Talwade Priyanka, Neela Praveen Kumar, Shyamilee T K, Oshin Mary, Pantala Veenila

机构信息

Private Practitioner, Oral Medicine and Radiology, Vishakapatnam, Andhra Pradesh, India.

Department of Oral Medicine and Radiology, Tirumala Institute of Dental Sciences, Nizamabad, Telangana, India.

出版信息

Glob Med Genet. 2021 Jun;8(2):41-50. doi: 10.1055/s-0041-1724105. Epub 2021 Mar 15.

DOI:10.1055/s-0041-1724105
PMID:33987622
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8110367/
Abstract

Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins. The properties of bone are very remarkable, because it is a dynamic tissue, undergoing constant renewal in response to mechanical, nutritional, and hormonal influences. In 1978, "The International Nomenclature of Constitutional Diseases of Bone" divided bone disorders into two broad groups: osteochondrodysplasias and dysostoses. The osteochondrodysplasia group is further subdivided into two categories: dysplasias (abnormalities of bone and/or cartilage growth) and osteodystrophies (abnormalities of bone and/or cartilage texture). The dysplasias form the largest group of bone disorders, hence the loose term "skeletal dysplasia" that is often incorrectly used when referring to a condition that is in reality an osteodystrophy or dysostosis. The word "dystrophy" implies any condition of abnormal development. "Osteodystrophies," as their name implies, are disturbances in the growth of bone. It is also known as osteodystrophia. It includes bone diseases that are neither inflammatory nor neoplastic but may be genetic, metabolic, or of unknown origin. Recent studies have shown that bone influences the activity of other organs, and the bone is also influenced by other organs and systems of the body, providing new insights and evidencing the complexity and dynamic nature of bone tissue. The 1,25-dihydroxyvitamin D3, or simply vitamin D, in association with other hormones and minerals, is responsible for mediating the intestinal absorption of calcium, which influences plasma calcium levels and bone metabolism. Diagnosis of the specific osteodystrophy type is a rather complex process and various biochemical markers and radiographic findings are used, so as to facilitate this condition. For diagnosis, we must consider the possibility of lesions related to bone metabolism altered by chronic renal failure (CRI), such as the different types of osteodystrophies, and differentiate from other possible neoplastic and/or inflammatory pathologies. It is important that the dentist must be aware of patients medical history, suffering from any systemic diseases, and identify the interference of the drugs and treatments to control them, so that we can able to perform the correct diagnosis and propose the most adequate treatment and outcomes of the individuals with bone lesions.

摘要

骨是一种特殊形式的结缔组织,它被矿化,大约由28%的I型胶原蛋白和5%的非胶原蛋白基质蛋白组成。骨的特性非常显著,因为它是一种动态组织,会根据机械、营养和激素影响不断更新。1978年,《骨先天性疾病国际命名法》将骨疾病分为两大类:骨软骨发育异常和骨发育异常。骨软骨发育异常组进一步细分为两类:发育异常(骨和/或软骨生长异常)和骨营养不良(骨和/或软骨质地异常)。发育异常构成了最大的骨疾病组,因此“骨骼发育异常”这个宽泛的术语在指代实际上是骨营养不良或骨发育异常的病症时经常被错误使用。“营养不良”一词意味着任何异常发育的状况。“骨营养不良”,顾名思义,是骨生长的紊乱。它也被称为骨营养不良症。它包括既非炎症性也非肿瘤性但可能是遗传性、代谢性或病因不明的骨疾病。最近的研究表明,骨会影响其他器官的活动,并且骨也会受到身体其他器官和系统的影响,这提供了新的见解并证明了骨组织的复杂性和动态性质。1,25 - 二羟基维生素D3,或简称为维生素D,与其他激素和矿物质一起,负责介导肠道对钙的吸收,这会影响血浆钙水平和骨代谢。特定类型骨营养不良的诊断是一个相当复杂的过程,会使用各种生化标志物和影像学检查结果来辅助诊断。为了进行诊断,我们必须考虑与慢性肾衰竭(CRI)改变的骨代谢相关的病变可能性,例如不同类型的骨营养不良,并与其他可能的肿瘤性和/或炎症性病变相鉴别。重要的是,牙医必须了解患者的病史,了解其是否患有任何全身性疾病,并识别药物和治疗对病情控制的干扰,以便我们能够对有骨病变的个体进行正确诊断并提出最适当的治疗方法和预期结果。

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