B型尼曼-匹克病伴海蓝组织细胞增多症1例  

A case of type B Niemann-Pick disease with sea-blue histiocytosis and literature review

作　　者：付滕 杨香会 王彦丽 李丽 接贵涛 FU Teng;YANG Xianghui;WANG Yanli;LI Li;JIE Guitao(Weifang Medical University,Weifang,Shandong 261000,China;Department of Hematology,Linyi Central Hospital,Linyi,Shandong 276400,China)

机构地区：[1]潍坊医学院,山东淮坊261000 [2]临沂市中心医院血液科,山东临沂276400

出　　处：《中国优生与遗传杂志》2022年第1期122-124,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的增强对B型尼曼-匹克病的认识。方法回顾性分析临沂市中心医院2018年收治的1例以上消化道出血为首发表现的累及多系统B型尼曼-匹克病患者的临床表现、诊断、鉴别诊断,并复习相关文献。结果该患者以上消化道出血为首发表现,表现为肝脾肿大、三系减少、肺纤维化。随后出现多部位多系统受累,最终诊断为B型尼曼-匹克病伴海蓝组织细胞增多症。结论对以上肝脾肿大、血细胞减少并伴有其他系统病变的患者,应注意鉴别B型尼曼-匹克病。Objective To enhance the understanding of type B Niemann-Pick disease.Methods A retrospective analysis of the clinical manifestations,diagnosis,and differential diagnosis of more than one case of gastrointestinal bleeding in Linyi Central Hospital in 2018 with multi-system B Niemann-Pick disease as the first manifestation,and review of related literature.Results The patient’s upper gastrointestinal bleeding was the first manifestation,manifested as hepatosplenomegaly,reduction of the three lines,and pulmonary fibrosis.Subsequently,multiple sites and multiple systems were involved,and the final diagnosis was type B Niemann-Pick disease with sea-blue histiocytosis.Conclusion For the above-mentioned patients with hepatosplenomegaly,blood cell reduction and other systemic diseases,attention should be paid to distinguish type B Niemann-Pick disease.

关 键 词：尼曼-匹克病 海蓝组织细胞增多 遗传病 SMPD1 脂代谢紊乱 

分 类 号：R587[医药卫生—内分泌] R589.2[医药卫生—内科学] R55[医药卫生—临床医学]