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

作　　者：袁燕慧[1] 谢品浩[1] 董海波[1] 陈兰昕[1] 李娟[1] 欧阳建[1] 

机构地区：[1]南京大学医学院附属鼓楼医院血液科,江苏南京210008

出　　处：《现代生物医学进展》2015年第2期257-260,共4页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目(31371377)

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。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.

关 键 词：尼曼-匹克病 骨髓 鞘磷脂 遗传性疾病 

分 类 号：R569.1[医药卫生—呼吸系统]