Mutations leading to the overactivation of the complement regulator protein C3 should be recognized as a cause of atypical hemolytic uremic syndrome (aHUS), a case report highlights. The report, “Complement C3 mutation causing atypical hemolytic uremic syndrome successfully treated with eculizumab,” was published in the…
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A rare type of inflammatory arthritis known as Still’s disease may trigger the development of atypical hemolytic uremic syndrome (aHUS), a recent case report suggests. A timely diagnosis of these conditions is critical to avoid irreparable damage to organs, the authors warn. The report, “Aggressive…
Atypical hemolytic uremic syndrome (aHUS) can co-exist with autoimmune thyroid disease, and the two conditions may influence each other’s development, a case report suggests. The report, “Atypical hemolytic uremic syndrome precipitated by thyrotoxicosis: a case report,” was published in BMC Pediatrics. Autoimmune thyroid disease (AITD)…
The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…
Self-administering Ultomiris (ravulizumab) as weekly under-the-skin injections may be as safe and effective in preventing overactivation of the complement system as standard intravenous infusions (given directly into the bloodstream), according to interim data from a Phase 3 clinical trial. Excessive activation of the complement system — a set…
Alexion Pharmaceuticals announced that Ultomiris (ravulizumab) has been approved in the European Union to treat adults and children (weighing at least 10 kgs, or 22 lbs) with atypical hemolytic uremic syndrome (aHUS). “Today’s marketing authorization marks an important step in our efforts to establish Ultomiris as the…
A short film by Kidney Research UK looking at how scientific research has helped those with atypical hemolytic uremic syndrome (aHUS) garnered People’s Choice honors at this year’s Charity Film Awards, presented virtually due to the COVID-19 outbreak. Called “Saving Lives — How Genetics Research Changed the…
The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
The first known case of atypical hemolytic uremic syndrome (aHUS) and adult-onset cobalamin C deficiency, a metabolic disorder, occurring together in the same person was described in a recent case report. The report, “Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in…
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