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陈振,孙宇,张凤山,张立,潘胜发,刁垠泽,陈欣,周非非,赵衍斌,张一龙.家族性颈椎后纵韧带骨化症的临床症状特点[J].脊柱外科杂志,2018,16(1):27-30.
家族性颈椎后纵韧带骨化症的临床症状特点     点此下载全文 (Fulltext)
陈振  孙宇  张凤山  张立  潘胜发  刁垠泽  陈欣  周非非  赵衍斌  张一龙
北京大学第三医院骨科, 北京 100191
基金项目:
DOI:10.3969/j.issn.1672-2957.2018.01.006
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摘要:
      目的 通过对家族性颈椎后纵韧带骨化症(OPLL)的临床症状分析,揭示家族聚集性OPLL的临床症状特点与遗传模式。方法 2011年1月-2016年12月,通过询问OPLL患者的家族史筛选出6个明显表现为家族聚集性的OPLL家系。对患者和其家系中每位成员进行颈椎X线、CT检查,观察是否有颈椎OPLL表现,同时询问是否存在OPLL相关症状。结果 共纳入研究对象53例,家族性OPLL发生率为24.5%(13/53);混合型:连续型:局灶型:节段型=7:4:1:1;患者年龄为(52.9±8.4)岁,发病年龄为(46.9±9.5)岁,最常累及节段为C3~6。以颈痛为首发症状者9例,以脊髓压迫为首发症状者4例。统计全部症状的发生情况:上肢麻木疼痛10例,头晕头痛6例,颈肩痛5例,下肢麻木疼痛5例,胸腹束带感4例,踩棉花感3例,上肢肌力障碍3例,下肢肌力障碍2例,括约肌功能障碍2例。统计每个分型的患者出现症状数占各自类型全部症状数(例数×9)的比例,混合型49.2%(31/63),连续型41.7%(15/36),局灶型22.2%(2/9),节段型11.1%(1/9)。结论 家族性颈椎OPLL临床症状的发生、发展特点与其影像学发生、发展、分型特点关系紧密。局灶型、节段型患者占全体比例较小,平均年龄较小,出现症状的数目较少,症状程度较轻;混合型、连续型患者占全体比例较大,平均年龄较大,出现症状的数目较多,症状程度较重。
关键词:颈椎  骨化,后纵韧带  疾病遗传易感性
Clinical features of familial cervical ossification of posterior longitudinal ligament    Fulltext
CHEN Zhen  SUN Yu  ZHANG Feng-shan  ZHANG Li  PAN Sheng-fa  DIAO Yin-ze  CHEN Xin  ZHOU Fei-fei  ZHAO Yan-bin  ZHANG Yi-long
Department of Orthopaedics, Peking University Third Hospital, Beijing 100191, China
Fund Project:
Abstract:
      Objective Through the analysis of the symptoms of the familial cervical ossification of the posterior longitudinal ligament(OPLL),to reveal the clinical features and genetic patterns of family-aggregated OPLL.Methods From January 2011 to December 2016,6 pedigrees with familial aggregation of OPLL were screened by the family history of the patients diagnosed with OPLL. The patients and each member of their pedigrees were examined by roentgenograph and CT to observe whether there were cervical OPLL manifestations and whether there were OPLL related symptoms.Results A total of 53 cases were included in the study. The incidence of familial OPLL was 24.5%(13/53),7 cases of mixed type,4 of continuous type,1 of focal type and 1 of segmental type. The age of patients was 52.9±8.4 years old,and the age of onset was 46.9±9.5 years old. The most frequently involved segment was C3-6. The first symptom was neck pain in 9 cases and spinal cord compression in 4. All statistical symptoms included upper limb pain and numbness in 10 cases,dizziness or headache in 6,neck and shoulder pain in 5,lower limb pain and numbness in 5,chest and abdominal constriction in 4,stepping-cotton sensation in 3,upper limb muscle strength disorders in 3,lower limb muscle strength disorder in 2 and sphincter dysfunction in 2. The precentage of symptoms accounting for the total number of symptoms in each type of patients was mixed type 49.2%(31/63),continuous type 41.7%(15/36),focal type 22.2%(2/9),segmental type 11.1%(1/9).Conclusion The characteristics of clinical symptoms are closely related to the occurrence,development and classification characteristics on imaging data in the familial cervical OPLL. Patients with focal or segmental type account for a small proportion of the total,with a small average age,less symptoms,and relatively mild symptoms. The proportion of the patients with mixed or continuous type is larger,with older age and more and heavier symptoms.
Keywords:Cervical vertebrae  Ossification of posterior longitudinal ligament  Genetic predisposition to disease
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