23岁男性成骨不全症1例

R. U. Partan, Hafizzanovian, Desi Oktariana
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摘要

成骨不全是一种胶原组织形成障碍,胶原组织具有结缔组织的功能,是由基因突变引起的1型胶原形成障碍引起的。本研究旨在描述成骨不全症的诊断。一名23岁男子因大约17年前复发性骨折来到巨港穆罕默德·胡森总医院风湿病综合诊所。患者还抱怨左耳听力缓慢下降。患者右大腿2年前仍被钉住,但经骨科控制后,据说骨头仍未融合。随后患者转至风湿病综合门诊进一步检查和治疗。经检查,患者身高145厘米,体重40公斤。患者巩膜蓝灰色,面部呈三角形,右腿长86 cm,左腿长78 cm,巩膜蓝色,脊柱侧凸,第二性发育正常。通过骨调查和骨龄检查,发现骨质疏松性骨结构,脊柱侧凸,右侧股骨中间1/3处有钢板-螺钉,股骨骨折愈合,左侧股骨弯曲,BMD Z-Score -3.0表示与同年龄、同性别比较非常低。治疗更侧重于支持性治疗,目的是尽量减少骨折的发生,尽量减少残疾,帮助成骨不全症患者独立生活,保持整体健康。骨科治疗的目的是治疗成骨不全伴骨折,预防或纠正骨畸形。总之,成骨不全是一种复杂的遗传性疾病,其特点是具有显著的临床变异性,需要一个逻辑分类系统。疾病管理需要多学科专家和进一步研究治疗方法,如双膦酸盐。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Diagnosis of Osteogenesis Imperfecta in 23 Years Old Man: A Case Report
Osteogenesis imperfecta is a disorder of the formation of collagen tissue that functions as connective tissue and is caused by a gene mutation that causes disturbances in the formation of type 1 collagen. This study aimed to describe the diagnosis of osteogenesis imperfecta. A 23-year-old man came to the rheumatology polyclinic of Dr. Mohammad Hoesin General Hospital Palembang with a complaint of recurrent fractures since ± 17 years ago. The patient also complained that the hearing in the left ear was slowly decreasing. The patient's right thigh was still pinned 2 years ago, but after being controlled by orthopedics, it was said that the bones were still not fused. Then the patient was referred to the rheumatology polyclinic for further examination and management. On examination, the patient was 145 cm tall and weighed 40 kg. He had blue-gray sclera, triangular facial appearance, right leg length 86 cm, left leg length 78 cm, blue sclera, and scoliosis, while secondary sex growth was within normal limits. From the examinations of bone survey and bone age, it was found osteoporotic bone structure, scoliosis, plate-screw in the middle 1/3 of the right femur, fracture union of the femur, bowing of the left femur, BMD Z-Score -3.0 means very low compared to the same age and gender. Management is more focused on supportive therapy with the aim of minimizing the occurrence of fractures, minimizing disability, and helping people with osteogenesis imperfecta to be independent and maintain overall health. The goal of orthopedic management is to treat osteogenesis imperfecta with fractures and prevent or correct bone deformity. In conclusion, osteogenesis imperfecta is a complex hereditary disease characterized by striking clinical variability necessitating a logical classification system. Disease management requires multidisciplinary experts and further research on therapeutic approaches such as bisphosphonates.
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