Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy
Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy
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DOI：
10.3390/jcm9040964
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发表时间：
2020-04-01
影响因子：
3.9
通讯作者：
Sunder-Plassmann, Gere
中科院分区：
文献类型：
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作者：
Aigner, Christof;Gaggl, Martina;Sunder-Plassmann, Gere
补体基因变异体介导的血栓性微血管病（cTMA）患者的性别差异尚未明确。我们检查了入组维也纳血栓性微血管病（TMA）队列的有cTMA病史的女性和男性患者的人口统计学和临床数据。随访时间为首次出现cTMA后3年。在这项单中心研究中，我们确定了1981年至2019年期间首次出现cTMA的51例患者; 63%为女性（p = 0.09）。诊断时的中位年龄在女性和男性之间没有差异。在肾功能或就诊时是否需要肾脏替代治疗方面，性别之间也没有差异。此外，我们观察到血浆或依库珠单抗治疗的相似使用以及女性和男性患者肾功能的可比性演变。更多女性显示补体因子H（CFH）和CD 46的风险单倍型（97% vs. 68%，p = 0.01），但补体相关基因中罕见致病性变异的患病率与性别无差异。总之，入组维也纳TMA队列的大多数cTMA患者为女性。临床表现和肾功能在性别之间没有差异，但女性更常出现cTMA风险单倍型。
Sex differences among patients with complement-gene-variant-mediated thrombotic microangiopathy (cTMA) are not well established. We examined demographic and clinical data from female and male patients with a history of cTMA enrolled in the Vienna thrombotic microangiopathy (TMA) cohort. Follow-up was three years after first presentation with cTMA. In this single-center study, we identified 51 patients with a first manifestation of cTMA between 1981 and 2019; 63% were female (p = 0.09). The median age at diagnosis did not differ between females and males. There was also no disparity between the sexes with regard to renal function or the need for renal replacement therapy at presentation. Furthermore, we observed similar use of plasma or eculizumab therapy and a comparable evolution of renal function of female and male patients. More females showed risk haplotypes of complement factor H (CFH) and CD46 (97% vs. 68%, p = 0.01), but there was no difference in the prevalence of rare pathogenic variants in complement-associated genes with regard to sex. In conclusion, the majority of cTMA patients enrolled in the Vienna TMA cohort were female. Clinical presentation and renal function did not differ between the sexes, but females more frequently presented with cTMA risk haplotypes.