The case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality of life — highlights the importance of early diagnosis and physician awareness about the disorder, researchers say. The case…
Abnormal activity of the parathyroid glands can change the extent to which phosphate is reabsorbed by the kidneys in people with X-linked hypophosphatemia (XLH), a new study indicates. The study, “Renal Phosphate Handling: Independent Effects of Circulating FGF23, PTH, and Calcium,” was published in the…
A new genetic sequencing panel could be used to help diagnose X-linked hypophosphatemia (XLH) and related conditions. The panel was described in the European Journal of Endocrinology, in the study “Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and…
The recommended starting dose of Crysvita (burosumab) is too low to effectively manage X-linked hypophosphatemia (XLH) in children with the rare inherited disorder, a Swedish study indicates. That dose, of 0.4 mg/kg, is insufficient to normalize the phosphate levels in the bodies of children with XLH, according to…
The prevalence of X-linked hypophosphatemia (XLH) in the Brazilian state of Paraná is lower than elsewhere in the world, at about five cases per million inhabitants, according to a new study. This is the first study to estimate the prevalence of XLH in Latin America, and it indicates that…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
People with hypophosphatemic rickets (HR) may experience yearslong delays in getting a confirmed diagnosis of their condition, undergoing a multitude of clinical visits and evaluations, according to a report detailing eight patient cases. The report also describes two cases in which tumors caused hypophosphatemic rickets. The researchers believe that…
A newly identified mutation is the probable cause of X-linked hypophosphatemia (XLH) in a young girl, according to recent case report. The study, “X-linked hypophosphatemic rickets: a new mutation,” was published in the Brazilian Journal of Nephrology. XLH is caused by mutations in the gene …
One-year treatment with Crysvita (burosumab) reduced bone damage and increased phosphate levels in children and adolescents with X-linked hypophosphatemia (XLH), a study showed. The study, “Real-life clinical study: 1-year of treatment with burosumab of children and adolescents affected with X-linked hypophosphatemia,” was presented online at…
Get regular updates to your inbox.