| 袁燕慧 谢品浩 董海波 陈兰昕 李 娟 欧阳建.B 型尼曼 - 匹克病一例附文献复习[J].现代生物医学进展英文版,2015,15(2):257-260. |
| B 型尼曼 - 匹克病一例附文献复习 |
| Niemann-Pick Disease Type B-a Case Report with Literature Review |
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| DOI： |
| 中文关键词: 尼曼 - 匹克病 骨髓 鞘磷脂 遗传性疾病 |
| 英文关键词: Niemann-Pick Bone marrow Spingomyelin Hereditary disease |
| 基金项目:国家自 然科学基金项目（ 31 371 377） |
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| 中文摘要: |
| 目的： 报道一例 B 型尼曼 - 匹克病患者的病例 资料， 提高对该病的认识。 方法： 观察 1 例 B 型尼曼 - 匹克病患者的临床表现、
骨髓涂片 及骨髓活检结果， 并进行相关的文献复习 。 结果： B 型尼曼 - 匹克为自 幼发病， 无神经系统受损表现， 伴有肝脾肿大、外周
血三系降低， 骨髓涂片 及活检结果可见尼曼 - 匹克细胞。 结论： 尼曼 - 匹克病是一种罕见的鞘磷脂沉积性遗传性疾病， 临床表现多
样，骨髓、肝脾淋巴结病理及基因 检测是确诊的关键方法，此病预后差， 无特效治疗药物。 |
| 英文摘要: |
| Objective:To report a case of Niemann-Pick type B so as to help improve the knowledge of this disease.Methods:The
clinical manifestations, results of bone marrow smear and bone marrow biopsy of 1 case of Niemann-Pick type B were studied with
literature review.Results:Niemann-Pick type B was manifested hepatosplenomegaly and pancytopenia since childhood without
neurological symptoms. The diagnosis of Niemann-Pick disease was made by bone marrow smear and biopsy.Conclusion:Niemann-Pick
disease was a rare hereditary disease with sphingomyelin deposition. It had no distinctive clinical characteristics. Bone marrow, live,
spleen, lymph node pathology and gene detection constituted a crucial method of diagnosis. Niemann-Pick displayed a poor prognosis
without specific drugs. |
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