Cargando…

Underlying Genetics of aHUS: Which Connection with Outcome and Treatment Discontinuation?

Atypical hemolytic uremic syndrome (aHUS) is a rare disease caused by a genetic dysregulation of the alternative complement pathway, characterized by thrombocytopenia, hemolytic anemia, and acute kidney injury, and included in the group of thrombotic microangiopathies. With the introduction of human...

Descripción completa

Detalles Bibliográficos
Autores principales:	Spasiano, Andrea, Palazzetti, Daniela, Dimartino, Lucrezia, Bruno, Francesca, Baccaro, Rocco, Pesce, Francesco, Grandaliano, Giuseppe
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572301/ https://www.ncbi.nlm.nih.gov/pubmed/37833944 http://dx.doi.org/10.3390/ijms241914496

Ejemplares similares

Can eculizumab be discontinued in aHUS?: Case report and review of the literature
por: Sahutoglu, Tuncay, et al.
Publicado: (2016)

Pregnancy-triggered atypical hemolytic uremic syndrome (aHUS): a Global aHUS Registry analysis
por: Fakhouri, Fadi, et al.
Publicado: (2021)

Remission of aHUS neurological damage with eculizumab
por: Ávila, Ana, et al.
Publicado: (2015)

Eculizumab and aHUS: Spotlight on Patient-Centered Care
por: Rafat, Cédric, et al.
Publicado: (2020)

Immunosuppressive Therapy of Antibody-Mediated aHUS and TTP
por: Kelen, Kata, et al.
Publicado: (2023)

aHUS caused by complement dysregulation: new therapies on the horizon
por: Waters, Aoife M., et al.
Publicado: (2010)

Complement therapy in atypical haemolytic uraemic syndrome (aHUS)
por: Wong, Edwin K.S., et al.
Publicado: (2013)

The global aHUS registry: methodology and initial patient characteristics
por: Licht, Christoph, et al.
Publicado: (2015)

Ravulizumab for the Treatment of aHUS in Adults: Improving Quality of Life
por: Legendre, Christophe, et al.
Publicado: (2021)

Prognostic utility of ADAMTS13 activity for the atypical hemolytic uremic syndrome (aHUS) and comparison of complement serology between aHUS and thrombotic thrombocytopenic purpura
por: Oh, Jisu, et al.
Publicado: (2019)

Erratum to: aHUS caused by complement dysregulation: new therapies on the horizon
por: Waters, Aoife M., et al.
Publicado: (2012)

Eculizumab Treatment for Postpartum HELLP Syndrome and aHUS—Case Report
por: Lokki, A. Inkeri, et al.
Publicado: (2020)

Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient
por: Bouwmeester, Romy N., et al.
Publicado: (2021)

Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS
por: Valoti, Elisabetta, et al.
Publicado: (2019)

A systematic review of eculizumab for atypical haemolytic uraemic syndrome (aHUS)
por: Rathbone, John, et al.
Publicado: (2013)

Functional similarity of ABP 959 and eculizumab in simulated serum models of aHUS and NMOSD
por: McBride, Helen J., et al.
Publicado: (2023)

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification
por: Martín Merinero, Hector, et al.
Publicado: (2021)

Functional Assessment of Fatigue and Other Patient-Reported Outcomes in Patients Enrolled in the Global aHUS Registry
por: Greenbaum, Larry A., et al.
Publicado: (2020)

Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis
por: Klämbt, Verena, et al.
Publicado: (2020)

Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS
por: Ermini, Luca, et al.
Publicado: (2012)

An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry
por: Woodward, Len, et al.
Publicado: (2016)

The Relevance of the MCP Risk Polymorphism to the Outcome of aHUS Associated With C3 Mutations. A Case Report
por: Lumbreras, Javier, et al.
Publicado: (2020)

Mikroangiopathien in der Schwangerschaft: HELLP/aHUS/TTP unter Berücksichtigung von COVID-19 in der Schwangerschaft
por: Abou-Dakn, Michael
Publicado: (2022)

Atypical hemolytic uremic syndrome (aHUS) responsive to mycophenolate mofetil: A case report from Nepal
por: Gurung, Jyoti, et al.
Publicado: (2022)

Reduced dose maintenance eculizumab in atypical hemolytic uremic syndrome (aHUS): an update on a previous case report
por: Ohanian, Maro, et al.
Publicado: (2011)

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding
por: Volokhina, Elena, et al.
Publicado: (2012)

Baseline characteristics and evolution of Brazilian patients with atypical hemolytic uremic syndrome: first report of the Brazilian aHUS Registry
por: Vaisbich, Maria Helena, et al.
Publicado: (2022)

Functional Characterization of Rare Genetic Variants in the N-Terminus of Complement Factor H in aHUS, C3G, and AMD
por: Wong, Edwin K. S., et al.
Publicado: (2021)

Thrombotic microangiopathy (aHUS/iTTP) reported so far in Covid-19 patients: The virus alone or an omnium gatherum of mechanisms and etiologies?
por: Mir, Tajamul H.
Publicado: (2021)

Clinical characteristics and outcomes of a patient population with atypical hemolytic uremic syndrome and malignant hypertension: analysis from the Global aHUS registry
por: Halimi, Jean-Michel, et al.
Publicado: (2022)

C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19
por: Aiello, Sistiana, et al.
Publicado: (2022)

Effective immunosuppressive management with belatacept and eculizumab in post-transplant aHUS due to a homozygous deletion of CFHR1/CFHR3 and the presence of CFH antibodies
por: Münch, Johannes, et al.
Publicado: (2017)

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
por: De Simone, Luciano, et al.
Publicado: (2018)

Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report
por: Bogdał, Anna, et al.
Publicado: (2021)

Blockade of the Terminal Complement Cascade Using Ravulizumab in a Pediatric Patient With Anti-complement Factor H Autoantibody-Associated aHUS: A Case Report and Literature Review
por: Wu, Xiaoyan, et al.
Publicado: (2021)

Exploratory Prognostic Biomarkers of Complement-Mediated Thrombotic Microangiopathy (CM-TMA) in Adults with Atypical Hemolytic Uremic Syndrome (aHUS): Analysis of a Phase III Study of Ravulizumab
por: Cammett, Tobin J., et al.
Publicado: (2022)

Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)—A Series of Cases from a Single Family
por: Furmańczyk-Zawiska, Agnieszka, et al.
Publicado: (2021)

Correction to: Exploratory Prognostic Biomarkers of Complement-Mediated Thrombotic Microangiopathy (CM-TMA) in Adults with Atypical Hemolytic Uremic Syndrome (aHUS): Analysis of a Phase III Study of Ravulizumab
por: Cammett, Tobin J, et al.
Publicado: (2023)

Genetics and complement in atypical HUS
por: Kavanagh, David, et al.
Publicado: (2010)

ONE OF THE CONDITIONS UNDER WHICH DISCONTINUOUS STERILIZATION MAY BE INEFFECTIVE
por: Smith, Theobald
Publicado: (1898)

Cannot write session to /tmp/vufind_sessions/sess_di0kk5ukbbdec97pkvdegerkl6