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.
出处
《现代生物医学进展》
CAS
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)
关键词
尼曼-匹克病
骨髓
鞘磷脂
遗传性疾病
Niemann-Pick
Bone marrow
Spingomyelin
Hereditary disease
