University Hospital Centre Zagreb Researcher Targets Fabry Disease (Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients).

A recent study conducted at the University Hospital Centre Zagreb focused on screening for Fabry disease-related mutations among 829 kidney transplant recipients. The research aimed to identify mutations associated with Fabry disease and investigate the correlation between various factors and enzyme levels. Genetic testing revealed hemizygous mutations in 0.4% of male patients, highlighting the importance of genetic testing in individuals with chronic kidney disease to enhance understanding of the disease. Further research is needed to explore factors influencing enzyme levels in Fabry disease. [Extracted from the article]