With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…
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Rare genetic variants in complement genes have been associated with atypical hemolytic uremic syndrome (aHUS) linked with anti-factor H autoantibodies (anti-FHs), recent research shows. Moreover, the study adds evidence that common infections contribute to this type of aHUS in genetically predisposed individuals. These observations explain why there is a…
Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how much harder it is for patients with rare diseases who must get to doctors’ appointments or clinical trials that are hundreds of miles away from home.
Soliris (eculizumab) rapidly improved renal function that had been compromised by clotting of small blood vessels in patients with atypical hemolytic uremic syndrome (aHUS), researchers report. The study with that finding, “Outcomes in patients with atypical hemolytic uremic syndrome treated with eculizumab in a long-term observational study,” was…
Soliris (eculizumab), started before or just after a kidney transplant, works against graft loss and improves long-term kidney function — potentially avoiding dialysis — in people with atypical hemolytic uremic syndrome (aHUS) who were diagnosed before this surgery, a registry study reports. But…
Russia has approved for patient use the first biosimilar of Soliris (eculizumab), a monoclonal antibody for the treatment of atypical hemolytic uremic syndrome (aHUS) and paroxysmal nocturnal hemoglobinuria (PNH). The product was created by the…
Hypertensive emergency and the presence of rare complement mutations are essential to estimate the prognosis of kidney disease in patients with atypical hemolytic uremic syndrome (aHUS). The study, “Impact Of Hypertensive Emergency And Complement Rare Variants On Presentation And Outcome Of Atypical Hemolytic Uremic Syndrome,” was published in…
A novel blood test may help monitor disease activity in patients with atypical hemolytic uremic syndrome (aHUS), as well as those at risk for relapse, a preliminary study reports. The test measures the ability of a person’s serum to activate complement factor C5b-9, which is usually higher in…
New research shows how an antibody was able to enhance the function of a member of the complement system, called complement factor H (FH), responsible for keeping this system in check. Augmenting FH with the newly discovered antibody reduced red blood cell burst in blood samples of atypical hemolytic uremic…
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Toddler with aHUS-induced Seizures Highlights Importance of Early Intervention, Case Study Says
A rare case of atypical hemolytic uremic syndrome (aHUS) manifesting in generalized seizures in a 14-month-old girl highlights the importance of prompt diagnosis and treatment to ensure better outcomes for this young population, a report says. The case was described in a study, “…
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