Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors

Clech, Alice Le; Simon-Tillaux, Noémie; François, Patrice; Delmas, Yahsou; Vieira-Martins, Paula; Limou, Sophie; Halimi, Jean‐Michel; Quintrec, Moglie Le; Lebourg, L; Grangé, Steven; Karras, Alexandre; Ribes, David; Jourde-Chiche, Noémie; Rondeau, Éric; Frémeaux‐Bacchi, Véronique; Fakhouri, Fádi

doi:10.1016/j.kint.2019.01.023

Cited by 90 publications

(113 citation statements)

References 38 publications

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“…Of interest, in 18 out of 93 females enrolled in this study, the onset of cTMA was associated with pregnancy [26]. In another analysis from France of 110 patients with secondary TMA, the male-to-female ratio was 1:1.44 (45:65) [27]. An update of a French cTMA cohort recently showed females to predominate males with a male-to-female ratio of 1:1.78 (143:254) [28].…”

Section: Sex and Age At Presentationmentioning

confidence: 81%

“…Our study of 51 patients with cTMA, shows a female preponderance of 63%, mainly due to female patients affected by p-cTMA. Previous studies have shown that more adult female than male patients present with cTMA or secondary TMA [11,21,[25][26][27][28]. In a large study of 273 patients with primary and secondary TMA, sex was indicated for 225 patients.…”

Section: Sex and Age At Presentationmentioning

confidence: 99%

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

Aigner

Gaggl

Kain

et al. 2020

JCM

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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.

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Section: Sex and Age At Presentationmentioning

confidence: 81%

Section: Sex and Age At Presentationmentioning

confidence: 99%

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

Aigner

Gaggl

Kain

et al. 2020

JCM

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“…Transient complement activation may occur in some patients with secondary HUS and thus promote the TMA process. 9 This interpretation of the case determined the therapeutic options. The presence of TMA made us start plasma therapy, but the presence of MPGN with AKI determined the use of steroid therapy and the start of antiviral therapy.…”

Section: Discussionmentioning

confidence: 99%

“…Treatment of this type of TMA includes first and foremost the withdrawal or treatment of the underlying disease and thus the removal or control of the initial main trigger of TMA, in this case, the HCV infection treatment, and treatment of the acute glomerulonephritis with steroids. 9 The hypothesis of associated complement activation on the pathophysiology justifies the use of plasma therapy and could, in cases of persistence of the TMA, also raise the possibility of using complement blockade therapy. 7…”

Section: Discussionmentioning

confidence: 99%

Cryoglobulinemic HCV-related membranoproliferative glomerulonephritis with TMA – secondary HUS or infection-triggered aHUS?

Teixeira¹,

Pinto²,

Afonso³

et al. 2020

pjnh

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Introduction: Membranoproliferative glomerulonephritis is a pattern of glomerular injury on renal biopsy with characteristic light microscopic changes, namely mesangial hypercellularity, endocapillary proliferation and double contour formation along the glomerular capillary walls. This pattern does not represent a disease per se but can occur as a result of different pathologic processes. Case Presentation: We present a case of a 37-year-old caucasian female patient with thrombotic microangiopathy (TMA), severe hypertension and immune-complex-mediated glomerulonephritis, secondary to hepatitis C virus (HCV) infection. Steroid therapy and fresh-frozen plasma infusions were started, with progressive improvement of lab results. Treatment of HCV infection was started with direct-acting antiviral therapy. The results of the genetic study of the complement alternative pathway regulatory proteins were positive for a homozygote variant of the gene CFHR5 (p.Val110Ala) and a homozygote deletion on CFHR3/CFHR1 proteins. Discussion: Hypertension is commonly associated with TMA and could explain the features of this case. Nevertheless, the differential diagnosis is often difficult because TMA caused by hypertension is indistinguishable from all other entities. The finding of a homozygote variant of the gene CFHR5, and a homozygote deletion on CFHR3/CFHR1 proteins, raised the possibility that this case might have been an Atypical Hemolytic Uremic Syndrome (aHUS) triggered by the endothelial damage caused by the HCV-related cryoglobulinemic glomerulonephritis.

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“…It was followed by many studies that underlined the need for genetic screening for all susceptibility factors as part of clinical management of atypical HUS patients 25 and showed that atypical and secondary HUS have no common genetic risk factors. 26 These studies have also induced a paradigm shift in patient care, with the development of complement inhibitors such as anti-C5 antibodies, of which eculizumab is the leader. However, controversies remain regarding the usefulness of complement inhibitors in secondary HUS.…”

mentioning

confidence: 99%

Pathophysiology of the glomerulus: KI tells the story

Ronco

2020

Kidney International

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Atypical and secondary hemolytic uremic syndromes have a distinct presentation and no common genetic risk factors

Cited by 90 publications

References 38 publications

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

Cryoglobulinemic HCV-related membranoproliferative glomerulonephritis with TMA – secondary HUS or infection-triggered aHUS?

Pathophysiology of the glomerulus: KI tells the story

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