VHL胚系突变所致家族性红细胞增多症2型1例报告并文献复习  

Familial erythrocytosis type 2 due to VHL germline mutations:a case report and literature review

作　　者：柳宁宁 潘丽娟 肖志坚 徐泽锋 Liu Ningning;Pan Lijuan;Xiao Zhijian;Xu Zefeng(State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Haihe Laboratory of Cell Ecosystem,Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Tianjin 300020,China;Tianjin Institutes of Health Science,Tianjin 301600,China)

机构地区：[1]中国医学科学院血液病医院(中国医学科学院血液学研究所),血液与健康全国重点实验室,国家血液系统疾病临床医学研究中心,细胞生态海河实验室,天津300020 [2]天津医学健康研究院,天津301600

出　　处：《中华血液学杂志》2025年第1期75-80,共6页Chinese Journal of Hematology

基　　金：中国医学科学院医学与健康科技创新工程项目(2022-I2M-1-022);国家自然科学基金(82170139、82070134);国家血液系统疾病临床医学研究中心第一批临床研究基金(2023NCRCA0117、2023NCRCA0103)。

摘　　要：目的加深对VHL基因复合杂合突变导致的家族性红细胞增多症2型(ECYT2)疾病的认识。方法回顾性分析1例ECYT2患者的病例资料,探讨ECYT2的发病机制、临床特点、诊治及预后,并对相关文献进行复习。结果男,31岁,因"颜面部和双手潮红29年"入院,全外显子组测序检出VHL p.P81L和p.N90T复合杂合突变,其父母均只携带其中1个杂合突变,为正常表型。结合患者血液学相关化验检查,明确诊断ECYT2,予以红细胞单采术和阿司匹林100 mg/d治疗后,患者因血液淤滞造成的头晕、头痛症状缓解,期间无血栓及出血事件发生。结论ECYT2是一类少见的常染色体隐形遗传性疾病,本例VHL基因复合杂合突变所致ECYT2为国内首次报道。其临床特点为红细胞容量升高,血清促红细胞生成素水平正常或升高以及血红蛋白氧亲和力水平正常,易引起血栓和出血性并发症,导致早期死亡。To enhance the understanding of familial erythrocytosis type 2(ECYT2)resulting from compound heterozygous mutations in the VHL gene.MethodsWe conducted a retrospective analysis of the case data from a patient with ECYT2 to investigate its pathogenesis,clinical features,diagnosis and treatment options,as well as prognosis,while also reviewing the relevant literature.ResultsA 31-year-old man was admitted to the hospital due to facial and hand flushing that had persisted for 29 years.Whole exome sequencing revealed compound heterozygous mutations in VHL p.P81L and p.N90T.Both of his parents were found to carry only one of these heterozygous mutations,yet they exhibited normal phenotypes.Based on the patient's hematological tests,a clear diagnosis of ECYT2 was established.Following treatment with erythrocytapheresis and daily administration of aspirin at a dosage of 100 mg,the patient experienced relief from dizziness and headaches associated with blood hyperviscosity,without any thrombotic or bleeding complications during this period.ConclusionsECYT2 is a rare group of autosomal recessive genetic disorders.This case of ECYT2,resulting from compound heterozygous mutations in the VHL gene,represents the first report in China.Clinically,it is characterized by elevated red cell mass,normal or increased serum erythropoietin levels,and normal hemoglobin oxygen affinity levels.These factors contribute to thrombotic and bleeding complications that can lead to early mortality.

关 键 词：遗传性红细胞增多症 家族性红细胞增多症2型 VHL基因 胚系突变 

分 类 号：R555.1[医药卫生—血液循环系统疾病]