Granulomatosis with polyangiitis (GPA) may sometimes manifest as facial paralysis and ear pain — a potentially challenging diagnosis, according to the case report of a teenage patient. The study, “Granulomatosis with polyangiitis presenting as facial nerve palsy in a teenager,” appeared in the International Journal of Pediatric…
Classifying the specificity of ANCA autoantibodies may complement the currently used clinical classification system when predicting the course of disease and prognosis in ANCA-associated vasculitis (AAV) patients with renal involvement, according to Spanish researchers. Indeed, ANCA specificity was seen to be better at predicting relapse than clinical classification.
Patients with ANCA-associated glomerulonephritis receiving immunosuppressive therapy are not more likely to develop cancer than the general population, a study found. However, researchers did find that the risk for blood, post-transplant, and nonmelanoma skin cancers (NMSC) is higher among these patients. Findings were reported in the study,…
Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
Diverse clinical manifestations in patients with granulomatosis with polyangiitis can delay diagnosis and treatment, leading to high mortality rates, a study reports. These findings highlight the importance of early diagnosis for improving survival. The study, “Granulomatosis with polyangiitis: clinical course and outcome…
When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
Ear, nose, and throat symptoms in patients with granulomatosis with polyangiitis (GPA) are associated with better overall survival and fewer kidney problems, according to researchers. The study, “Ear, nose and throat involvement in granulomatosis with polyangiitis: how it presents and how it determines disease severity and…
In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
Measuring levels of protein CD25 in blood and urine can help determine if ANCA-associated vasculitis is affecting patients’ kidneys, a study suggests. A research team published the study in the journal Nephrology Dialysis Transplantation. The title is “Urinary and serum soluble CD25 complements urinary soluble CD163 to detect active…
At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…
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