Nasu-Hakola病1例临床病理分析及文献复习
Clinicopathological analysis and literature review of Nasu-Hakola disease
  
DOI:10.3969/j.issn.1006-7108.2020.07.016
中文关键词:  Nasu-Hakola病  临床病理  文献复习
英文关键词:Nasu-Hakola disease  clinical pathology  literature review
基金项目:广东省杰出青年医学人才基金项目(粤卫2018 95号);佛山市十三五医学重点专科建设项目(FSZDZK135018);佛山市杰出青年医学人才基金项目(201800206)
作者单位
徐园园1 毛荣军1* 胡永波2 彭慧芝1 莫超华1 谢乐1 黄颖欣1 1.广东省佛山市中医院病理科广东 佛山 528000 2.广东省佛山市中医院骨科广东 佛山 528000 
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中文摘要:
      目的 探讨罕见且致命的进行性、难治性常染色体隐性遗传病Nasu-Hakola病(Nasu-Hakola disease,NHD)的临床及病理特征、诊治进展,提高诊治水平。方法 分析1例NHD并结合既往报道的文献,回顾性分析NHD临床病理学的特征、诊断、鉴别诊断、治疗及预后。结果 此例NHD发病年龄38岁,男性,以脑梗死为初发症状,伴脑梗后遗症;39岁发现左侧肱骨单纯性骨囊肿并病理性骨折,右侧肱骨无特殊,行左肱骨病理性骨折病灶清除植骨内固定术,术后2个月余发现右侧肱骨新发单纯性骨囊肿,显示骨重塑能力不平衡的情况在进行性加重。予唑来磷酸抑制骨质吸收,试图减缓这种进程。随访17个月右侧肱骨囊肿进行性扩大;左侧肱骨见新的小斑点密度减低影。唑来磷酸并不能阻止骨囊肿的进展。结论 在NHD第2和第3阶段的病理性骨折应积极治疗,手术治疗骨折在一定程度上可以提高其生活质量;而在第4阶段因手术风险很高,提倡保守治疗。对有额叶精神症状的患者,可尝试用丙戊酸钠治疗。有NHD家族史的胎儿可进行基因检测,避免胎儿及其家庭未来陷入痛苦无望的境地。
英文摘要:
      Objective To investigate the clinicopathological characteristics, progress, diagnosis, and treatment of Nasu-Hakola disease (NHD), a rare fatal progressive and intractable autosomal recessive hereditary disease. Methods One case of NHD was retrospectively analyzed. Combined with other cases which were reported previously, the clinicopathological characteristics, diagnosis, differential diagnosis, treatment, and prognosis of this disease were reviewed. Results A 38-year-old male NHD patient presented with initial symptoms of cerebral infarction accompanied with sequelae. At 39 years old, he was found to have a simple bone cyst and pathological fracture in the left humerus, without any abnormality in the right humerus. Internal fixation with bone graft was performed for the removal of the lesion of the pathological fracture of the left humerus. Two months later, a new simple bone cyst was found in the right humerus, showing the progressive exacerbation situation of the imbalance of bone remodeling ability. Zoledronic acid was used to inhibit bone resorption to an attempt to slow this process down. During the follow-up of 17 months, bone cyst in the right humerus enlarged progressively, and new low-density spots were found in the left humerus. Zoledronic acid did not prevent stop the development of the bone cysts. Conclusion Pathological fractures in stage 2 and 3 of NHD should be treated aggressively. Surgical treatment for fractures improves the patients,living quality to some extent. However, in stage 4, due to the high risk of surgery, conservative treatment is recommended. Valproate can be used to treat patients with frontal lobar symptoms. Fetus with a family history of NHD should undergo genetic testing to prevent the fetus and its family from being plunged into painful and hopeless situations in the future.
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