成骨不全Ⅰ型合并强直性脊柱炎一例并文献复习  

Musculoskeletal manifestations of mild osteogenesis imperfecta, a case with ankylosing spondylitis

作　　者：李洁[1] 王茜[2] 刘花香[1] 舒强[1] 丁峰[1] 

机构地区：[1]山东大学齐鲁医院风湿科,济南250012 [2]山东大学齐鲁医院放射科,济南250012

出　　处：《中华风湿病学杂志》2018年第3期190-194,共5页Chinese Journal of Rheumatology

摘　　要：目的通过报道1例成骨不全（0I）并发As并文献复习，了解成骨不全的骨关节表现。方法患者男，27岁，因炎性腰背痛、晨僵2年入院，其母亲、姨妈、女儿和儿子患成骨不全。查体、体格发育正常，巩膜为蓝色，听力和牙齿正常，腰椎活动受限，ESR32mrrdlh，CRP9．00mg／L，HLA—B27阳性，骶髂关节磁共振显示双骶髂关节病变，诊断为成骨不全并发As，给予锝一亚甲基二膦酸盐静脉注射，利塞膦酸钠、双氯芬酸钠和柳氮磺吡啶治疗，病情好转。结果成骨不全是一种常染色体遗传性全身CTD，其Ⅰ型生长发育基本正常，常有关节肌肉症状如关节痛和关节炎，白发性骨折。结论OI并发炎性骨、关节和肌腱病变。应当予以重视。Objective We reported a case of osteogenesis imperfecta （OI） concurrent with ankylo- sing spondylitis （AS） and reviewed the literature to investigate the Musculoskeletal manifestations of OI. Methods A 27 years old male patient was admitted to department of rheumatology, Qilu hospital with complaints of left hip and low back pain accompanied with morning stiffness. He had pain and gradual limit- ation in range of motion of the spine for 2 years and symptomatic exacerbation nearly 8 months. His mother, aunt, daughter and son suffered from OI as well. Clinical examinations revealed blue sclera but hearing and teeth were normal. He had typical AS appearance and severe deformities of left hip joint. His erythrocyte sedimentation rate （ESR） was 32 mm/1 h, C-reactive protein （CRP） was 9.00 mg/L, and human leukocyte antigen （HLA）-B27 was positive. Magnetic resonance imaging （MRI） scanning of sacroiliac joint was consistent with spondyloarthropathies and avascular necrosis of left femoral head. After being treated with daily ~Tc methylenediphonate intravenously, oral risedronate 5 mg and diclofenac sodium and sulfasalazine, his condition was improved. Results OI was an autosomal dominant hereditary disease defined by bone frailty due to abnormal synthesis of type I collagen in bone matrix. It affects the entire skeleton, predisposing the patient to frequent non-traumatic fractures, causing pain, skeletal deformity, and disability. Conclusion OI patients have many musculoskeletal manifestations, such as arthralgia and deformities and should be considered in the differential diagnosis by rheumatologist.

关 键 词：脊柱炎 强直性 成骨不全 

分 类 号：R593.23[医药卫生—内科学] R681.1[医药卫生—临床医学]