Atypical hemolytic–uremic syndrome

Marini, S.; Gomes, Marcio M.; Guilherme, Raquel; Carda, José Pedro; Pinto, Carla; Fidalgo, Teresa; Ribeiro, Maria Letı́cia

doi:10.1097/mbc.0000000000000793

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…The new approach emphasizes cost-effectiveness and rational cost reduction, which is to be encouraged. Nevertheless, such a clinical decision on cost-effectiveness reasoning should be taken with caution [44]. Signs of overactivation and overconsumption should be carefully monitored to ensure timely administration of complement blockade.…”

Section: Discussionmentioning

confidence: 99%

“…Without apparent alternative complement pathway activation, an early application of complement blockade cannot be rationally supported [24]. Actually, an adult aHUS patient with the MCP gene (case 8) with c.287-2A > G (splice acceptor) mutation and compound heterozygosity for CFH-H3 and MCPggaac haplotype, who had an initially infection-triggered mild disease course, was treated with PI/PEX and RRT only after evidence of renal deterioration [44]. The onset of the aHUS is mostly triggered by mostly unknown infective causes save the 6-mercaptopurine maintenance therapy for acute leukemia (case 5).…”

Section: Discussionmentioning

confidence: 99%

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The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review

Turudic,

Pokrajac,

Tasic

et al. 2023

IJMS

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We present eight cases of the homozygous MCPggaac haplotype, which is considered to increase the likelihood and severity of atypical hemolytic uremic syndrome (aHUS), especially in combination with additional risk aHUS mutations. Complement blockade (CBT) was applied at a median age of 92 months (IQR 36–252 months). The median number of relapses before CBT initiation (Eculizumab) was two. Relapses occurred within an average of 22.16 months (median 17.5, minimum 8 months, and maximum 48 months) from the first subsequent onset of the disease (6/8 patients). All cases were treated with PI/PEX, and rarely with renal replacement therapy (RRT). When complement blockade was applied, children had no further disease relapses. Children with MCPggaac haplotype with/without additional gene mutations can achieve remission through renal replacement therapy without an immediate need for complement blockade. If relapse of aHUS occurs soon after disease onset or relapses are repeated frequently, a permanent complement blockade is required. However, the duration of such a blockade remains uncertain. If complement inhibition is not applied within 4–5 relapses, proteinuria and chronic renal failure will eventually occur.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review

Turudic,

Pokrajac,

Tasic

et al. 2023

IJMS

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Common Genetic Variants in the Complement System and their Potential Link with Disease Susceptibility and Outcome of Invasive Bacterial Infection

et al. 2019

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Streptococcus pneumoniae and Neisseria meningitidis are pathogens that frequently colonize the nasopharynx in an asymptomatic manner but are also a cause of invasive bacterial infections mainly in young children. The complement system plays a crucial role in humoral immunity, complementing the ability of antibodies to clear microbes, thereby protecting the host against bacterial infections, including S. pneumoniae and N. meningitidis. While it is widely accepted that complement deficiencies due to rare genetic variants increase the risk for invasive bacterial infection, not much is known about the common genetic variants in the complement system in relation to disease susceptibility. In this review, we provide an overview of the effects of common genetic variants on complement activation and on complement-mediated inflammation.

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Thrombotic microangiopathy and smoldering multiple myeloma after kidney transplant in a patient with MCP mutation

Tejederas

Corona

Garcia

et al. 2021

Journal of Onco-Nephrology

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The most frequent cause of atypical hemolytic uremic syndrome (aHUS) is defective regulation of complement activation because of genetic anomalies. We present the case of 53-year-old man with a kidney transplant and stabilized kidney function (creatinine 2.5 mg/dL; proteinuria 0.4 g/24 h) with mycophenolate/tacrolimus/prednisone who was diagnosed of Thrombotic Microangiopathy (TMA). This diagnosis was associated with creatinine and proteinuria rise (3 mg/dL; 2.4 g/24 h) and a new monoclonal IgA/lambda component. Renal biopsy showed membranoproliferative glomerulonephritis; a pathogenic variant in the Membrane cofactor protein (MCP) gene with a polymorphism ggaac, typically associated to secondary aHUS, was identified. We suspected that immunoglobulin could be acting as a trigger for TMA in a genetically susceptible patient, so “clone-directed” therapy with bortezomib and dexamethasone was initiated.

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Atypical hemolytic–uremic syndrome

Cited by 4 publications

References 15 publications

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review

The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review

Common Genetic Variants in the Complement System and their Potential Link with Disease Susceptibility and Outcome of Invasive Bacterial Infection

Thrombotic microangiopathy and smoldering multiple myeloma after kidney transplant in a patient with MCP mutation

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