Atypical uremic haemolytic syndrome is a variant of thrombotic micro-andiopathy characterized by non-autoimmune hemolytic anemia, thrombocytopenia and acute renal failure as a result of excessive activation of the complement. Up to 60% of patients have mutations in the genes that encode the complement system. A disensing factor is required for its manifestation, including gestation. It is an entity with a high morbidity, which can decrease drastically if an early diagnosis is made and appropriate treatment is initiated. Administration of ecuilizumab has demonstrated rapid process disruption, reducing the need for extrarenal purification therapies and improving renal function and patient prognosis.
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http://dx.doi.org/10.1016/j.redare.2020.12.008 | DOI Listing |
Hum Gene Ther
January 2025
BridgeBio Gene Therapy, Palo Alto, California, USA.
Complement-mediated thrombotic microangiopathy (TMA) in the form of atypical hemolytic uremic syndrome (aHUS) has emerged as an immune complication of systemic adeno-associated virus (AAV) gene transfer that was unforeseen based on nonclinical studies. Understanding this phenomenon in the clinical setting has been limited by incomplete data and a lack of uniform diagnostic and reporting criteria. While apparently rare based on available information, AAV-associated TMA/aHUS can pose a substantial risk to patients including one published fatality.
View Article and Find Full Text PDFCan J Kidney Health Dis
January 2025
Multiorgan Transplant Program, Division of Nephrology, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.
Background: Kidney failure is a prevalent condition with tendency for familial clustering in up to 27% of the affected individuals. Living kidney donor (LKD) transplantation is the optimal treatment option; however, in Canada, more than 45% of LKDs are biologically related to their recipients which subjects recipients to worse graft survival and donors to higher future risk of kidney failure. Although not fully understood, this observation could be partially explained by genetic predisposition to kidney diseases.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Consejo Nacional de Investigaciones Científicas y Técnicas, CONICET, Buenos Aires, Argentina.
Background: This research explores complement activation products involvement and risk and protective polymorphisms in the complement alternative pathway genes in Shiga toxin-associated hemolytic uremic syndrome (STEC-HUS) pathogenesis.
Methods: We analyzed the levels of complement activation products, C3a, C5a and soluble C5b-9 (sC5b-9) and plasma concentrations of Factor H (FH) and FH-related protein 1 (FHR-1) in 44 patients with STEC-HUS, 12 children with STEC-positive diarrhea (STEC-D), and 72 healthy controls (HC). STEC-HUS cases were classified as "severe" or "non-severe".
Cureus
November 2024
Department of Medicine, Mercyhealth Graduate Medical Education (GME) Consortium, Rockford, USA.
Thrombotic microangiopathies (TMA) are a group of conditions that present with varying degrees of microthrombi, thrombocytopenia, microangiopathic hemolytic anemia, renal dysfunction, and neurological impairment. Etiologies can be primary, such as thrombotic thrombocytopenic purpura (TTP), hemolytic uremic syndrome (HUS), and atypical hemolytic uremic syndrome (aHUS), or secondary, such as due to systemic infections, malignancies, immune-mediated conditions, and hypertensive emergencies. In hypertensive emergencies, this presentation can occur from mechanical stress placed on red blood cells as they pass through narrowed arteries due to edema and microangiopathic changes within the vessels themselves.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Department of Internal Medicine, University of California Irvine Medical Center, 333 City Blvd West, Suite 500, Orange, CA, 92868, USA.
Background: Thrombotic microangiopathy (TMA) is a rare, life-threatening disorder characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage. Atypical hemolytic uremic syndrome (aHUS) is even less common, comprising less than 10% of hemolytic uremic syndrome (HUS) cases. aHUS in postpartum is associated with poor maternal outcomes, with the majority of cases resulting in end-stage renal disease.
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