大理石病的临床口罩

O. G. Radaikina, A. Usanova, I. Fazlova, N. Guranova, E. V. Radaikina
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引用次数: 0

摘要

大理石病或骨质疏松症(OPT)在风湿病学家、内科医生或儿科医生的实践中是罕见的。这组遗传性疾病是基于破骨细胞(OCL)的形成、发育和功能缺陷,导致骨组织的吸收和重塑过程中断。骨吸收的紊乱会导致骨骼密度的增加和质量的改变,因此骨骼会变得更加脆弱。通常,这种疾病表现为病理性骨折。近几十年来,70%的OPT患者被发现至少有10个基因突变,导致OCL功能受损。根据遗传变异,可区分常染色体显性、常染色体隐性和中间类型的OPT。常染色体显性OPT为良性病程,可无症状或以多发骨折和其他脊柱异常为特征。这种病通常在成年或青春期发病。这组患者的预期寿命与一般人群的预期寿命没有差别。恶性,或婴儿,OPT与常染色体隐性遗传模式相关。它的临床表现从出生的那一刻就可以观察到,如果不进行治疗,患者会在生命的第一个十年内死亡。在这些患者中,除了骨骼病理外,还会累及造血系统,压迫脑神经及其功能障碍。本文介绍了一个临床病例常染色体显性OPT诊断在成年期(在38岁),当病人提到医生的第一次。对强直性脊柱炎和副肿瘤性脊柱炎进行鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical masks of marble disease
Marble disease, or osteopetrosis (OPT), is rare in the practice of a rheumatologist, internist or pediatrician. This group of hereditary diseases is based on a defect in the formation, development and functioning of osteoclasts (OCL), which leads to disruption of the processes of resorption and remodeling of bone tissue. Disturbance of resorption leads to increased density and changes in the quality of the bones, as a result of which they become more fragile. As a rule, the disease manifests with pathological fractures. In recent decades, 70% of patients with OPT have been found to have mutations in at least 10 genes that lead to impaired functioning of the OCL. Depending on the variant of inheritance, autosomal dominant, autosomal recessive and intermediate types of OPT are distinguished. Autosomal dominant OPT has a benign course that can be asymptomatic or characterized by multiple bone fractures and other spinal anomalies. The disease usually manifests in adulthood or adolescence. Life expectancy in patients of this group does not differ from that in the general population. Malignant, or infantile, OPT is associated with an autosomal recessive inheritance pattern. Its clinical manifestations are observed from the moment of birth, without treatment, patients die within the first decade of life. In such patients, in addition to the skeletal pathology, there is involvement of the hematopoietic system, compression of the cranial nerves and their function disturbance.The article presents a clinical case of autosomal dominant OPT diagnosed in adulthood (at the age of 38), when the patient referred to the doctor for the first time. Differential diagnosis with ankylosing spondylitis and paraneoplastic spondyloarthritis was performed.
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