Kidney Image of a Czech Patient Featured on the Cover of a Prestigious Medical Journal

A research team from the First Faculty of Medicine of Charles University and the General University Hospital in Prague has achieved a major scientific breakthrough. In the current issue of The Journal of the American Society of Nephrology(JASN), not only is their study featured, but the cover of the journal also displays a microscopic image of kidney tissue from a Czech patient with Fabry disease.

Fabry disease is a rare inherited disorder caused by a deficiency of the enzyme α-galactosidase A, which leads to the accumulation of undigested lipids in the cells of various organs—most commonly the heart, kidneys, and nervous system. This condition can result in serious health complications from early childhood.

The scientific team, led by experts Martina Živná, Stanislav Kmoch, Gabriela Dostálová, and Aleš Linhart, has newly described a disease mechanism that goes beyond the previously known lipid accumulation. In their work, they introduced the term AGALopathy, referring to a faulty process in the formation and intracellular localization of the enzyme. This newly identified mechanism leads to cell damage through the activation of cellular stress and programmed cell death, even in the absence of significant lipid deposits.

This discovery has major implications for understanding the diverse forms of the disease and may explain why some patients do not respond to standard enzyme replacement therapy. The research also revealed the therapeutic potential of a compound called BRD4780, which helps remove faulty proteins and could offer a new treatment option.

The findings are part of long-term research conducted within the The National Institute for Research on Metabolic and Cardiovascular Diseases (CarDia) and the National Center for Medical Genomics.

In the Czech Republic, care for patients with Fabry disease is centralized at the Fabry Disease Center at the General University Hospital, where more than 250 patients are currently monitored. Thanks to screening programs, the disease is increasingly being detected in its early stages, including preclinical forms.

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