Among people receiving medical care for chronic kidney diseases, a small fraction have Fabry disease, a new study highlights. To ensure these patients get optimal treatment, it’s critical to have screening programs in place to provide a prompt diagnosis — especially early on — according to researchers. “Although the…

High levels of calciprotein particles (CPP) — tiny structures that transport excess minerals in the bloodstream — were found in adults with Fabry disease who have a low bone mineral density (BMD), a study revealed for the first time. The hip bone and the top of the upper leg…

A rare case of end-stage kidney disease was discovered in a young boy with Fabry disease, a case study reported. In such cases of unexplained kidney failure in children, a detailed family history should be taken, and Fabry considered a possible cause, the researchers recommended. The case study, “…

In people with Fabry disease, starting enzyme replacement therapy (ERT) before the onset of chronic kidney disease — known as CKD — is linked with better outcomes, according to a Spanish retrospective study. Indeed, patients with CKD at the start of ERT had an increase of three…

The American Kidney Fund (AKF) has opened a Fabry disease education and awareness campaign that encourages people with chronic kidney disease (CKD) who don’t know the underlying cause of their disorder to get tested for Fabry. The effort is in partnership with Sanofi Genzyme, and expands on…

High-risk screenings for Fabry disease among individuals with chronic kidney disease (CKD) should be based on biomarkers other than globotriaosylceramide (Gb3) to lower the frequency of false positives, a study has found. Alternatively, according to the researchers, the normal range of urinary Gb3 values for patients…

Few nephrologists in Russia are aware of Fabry disease, which is a problem that could be addressed by screening and diagnosing at-risk patients with end-stage renal disease who are undergoing hemodialysis. Also, the highest prevalence of Fabry disease in Russian dialysis units is for men…

Kidney injury associated with Fabry disease significantly varies among patients. Family members with unknown kidney disease should consider Fabry disease as a potential diagnosis, according to a case series report. The study, “Variable phenotypic presentations of renal involvement in Fabry disease: a case series,” was published in F1000 Research.