家族性华氏巨球蛋白血症6例并文献复习  

Familial Waldenstrom macroglobulinemia:report of 6 cases and review of literature

作　　者：祁光玉 周美玲 蔡伟欣 李旭 陈天荣 苗雨青 徐浩 程月新 Zhang Xiaohan;Du Xin;Cai Yun;Wang Pengcheng;Luo Changru;Li Xiaoqing(Department of Hematology,Shenzhen Second People's Hospital,Shenzhen 518035,China)

机构地区：[1]徐州医科大学附属盐城医院盐城市第一人民医院南通大学第四附属医院血液内科,盐城224006

出　　处：《白血病．淋巴瘤》2022年第2期99-102,共4页Journal of Leukemia & Lymphoma

基　　金：深圳骨髓移植技术临床应用公共服务平台项目。

摘　　要：目的探讨家族性华氏巨球蛋白血症(WM)患者的家族遗传、临床、治疗及转归特点。方法回顾性分析2002年6月至2019年7月盐城市第一人民医院收治的6例家族性WM患者的临床表现、实验室检查、诊治经过及随访资料,并进行文献复习。结果6例WM患者中,4例起病表现为头晕乏力,1例以反复低热及异常出汗为首发表现,1例因肺部感染住院发现;其中有2例患者的兄弟诊断为WM,另有2例患者的兄弟体检时发现IgM型意义未明的单克隆免疫球蛋白血症(MGUS)。6例WM患者均为中老年男性,中位发病年龄为63岁(51~70岁)。6例WM患者中位随访71.5个月(4~217个月);至2020年6月随访结束,2例因肺部感染死亡,其中1例转为急性髓系白血病;其余4例规律化疗中。2例IgM-MGUS患者无症状随访中。结论WM患者存在家族聚集现象,临床表现异质性大,有家族史者预后可能较差。应加强对WM的认识,提高筛查家族史的意识。Objective To investigate the familial inheritances,clinical features,treatments and outcomes of familial Waldenstrom macroglobulinemia(WM)patients.Methods The clinical manifestations,laboratory examinations,diagnosis and treatments,and follow-up data of 6 familial WM patients who were admitted to Yancheng No.1 People's Hospital from June 2002 to July 2019 were retrospectively analyzed,and the literature was reviewed.Results Among 6 WM patients,4 patients had dizziness and fatigue at the onset,1 patient had recurrent low-grade fever and abnormal sweating as the first manifestations,1 patient was hospitalized due to pulmonary infection,and WM was found later.Two brothers of the patients were diagnosed with WM,another 2 brothers of the patients had IgM-type monoclonal gammopathy of undetermined significance(MGUS)during the physical examination.All the 6 patients were middle-aged/elderly men,with a median age of 63 years old(51-70 years old).The median follow-up time were 71.5 months(4-217 months),and by the end of the follow-up(June 2020),2 cases died of pulmonary infection,and 1 of them developed acute myeloid leukemia;the other 4 cases were in regular chemotherapy.Two IgM-MGUS patients were followed up without symptoms.Conclusions WM patients have familial aggregation,and their clinical manifestations are highly heterogeneous.Patients with family history may have poor prognosis.It is necessary to strengthen the awareness of WM and family history screening.

关 键 词：WALDENSTROM巨球蛋白血症 未定性的单克隆γ球蛋白血症 遗传性疾病 

分 类 号：R733.1[医药卫生—肿瘤]