Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy

Journal of Clinical Medicine

卷:9

Renate Kain¹  Martina Gaggl²  Alice Schmidt²  Natalja Haninger-Vacariu²  Christof Aigner²  Gere Sunder-Plassmann²  LeahCharlotte Piggott²  Raute Sunder-Plassmann³  Zoltán Prohászka⁴  Nóra Garam⁴  Dorottya Csuka⁴ 

[1] Department of Pathology, Medical University Vienna, 1090 Vienna, Austria;

[2] Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, 1090 Vienna, Austria;

[3] Genetics Laboratory, Department of Laboratory Medicine, Medical University Vienna, 1090 Vienna, Austria;

[4] Research Laboratory, 3rd Department of Internal Medicine, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, 1094 Budapest, Hungary;

关键词: genetic renal disease;    clinical nephrology;    hemolytic uremic syndrome;    thrombotic microangiopathy;    orphan disease;    sex;   

DOI  :  10.3390/jcm9040964

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown