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Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

As a young boy in Ireland, Ronald Dixon was drawn to how sunlight made stained glass art come alive. The son of an organist and choirmaster, Dixon spent much of his childhood in church, for years admiring the craftsmanship of those who created the work that captured his imagination. Dixon…

Uterine fibroid surgery triggered atypical hemolytic uremic syndrome (aHUS) in a woman without disease-related genetic defects, a case study reported. Clinicians should investigate conditions such as aHUS after major gynecologic surgery accompanied by kidney impairment and abnormal lab tests indicating red blood cell damage to prevent irreversible kidney disease,…

Eight cases of atypical hemolytic uremic syndrome (aHUS) that occurred in people with underlying conditions that could have prompted increased activity of the complement cascade — a part of the immune system that is thought to drive aHUS — were described in a recent report. “The cases described…

A blood test may help doctors tell a pregnancy complication called HELLP syndrome from thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS), a small study found. The test measures the ratio of two proteins — lactate dehydrogenase (LDH) to aspartate aminotransferase (AST) — that signify damage to tissues…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Genetic testing was used to identify predisposing gene mutations in a Korean woman with clinical signs of atypical hemolytic uremic syndrome (aHUS), according to a recent case report. “Patients with hereditary aHUS experience recurrent relapse even after complete recovery from the presenting episode, and about two-thirds of them progress…

The case of a woman who developed atypical hemolytic uremic syndrome (aHUS) during pregnancy was described in a recent report, which highlights the need to measure the levels of the ADAMTS13 enzyme to differentiate aHUS from similar conditions. The report, “A Case of Atypical Hemolytic Uremic…

Two infants developed atypical hemolytic uremic syndrome (aHUS) caused by mutations in the EXOSC3 gene and subsequent COVID-19 infections, as described in a recent case report. The cases, which are unusual in that they do not involve an imbalance of the immune system’s complement pathway, may offer insights into new…

A diagnosis of atypical hemolytic uremic syndrome (aHUS) was delayed in a woman with a history of advanced, but treated, cancer due to several confounding factors partly related to that cancer, according to a case report from the U.S. While the woman also had anemia and poor kidney function, two hallmarks…