Asdent (Association of Dent Disease) has delivered 114,978.55 euros to the Vall d’Hebron Research Institute (VHIR) to continue researching this disease. The pathology of Dent is a hereditary minority disease linked to the X chromosome and characterized by alterations of the proximal renal tubule that result in proteinuria, hypercalciuria and nephrocalcinosis. The patients expel in the urine the proteins, phosphorus and glucose that the body needs. All this causes them to evolve towards terminal kidney disease and fibrosis.
Asdent was created from the diagnosis of this disease in Nacho. His parents are the instigators of the association, which aims to raise funds to help investigate new drugs to stop the disease. Eva is Nacho’s mother, and travels around the world to get money. It is all an example of improvement, since Eva suffers multiple sclerosis and in 2013 she completed the Titan Desert (a demanding mountain biking race) and, later, the Epic Gaes Atacama, a 500 km race through the Atacama desert (Chile ), to get money. The donation made by Asdent to VHIR will serve to continue investigating this minority disease. Eva has given “thanks to all the people who stand in solidarity with our cause and our son Nacho.”
In the Vall d’Hebron Research Institute (VHIR) lead the investigation of Dent disease doctors Gema Ariceta, head of the Pediatric Nephrology Service Vall d’Hebron Hospital and doctor Nacho, and Ana Meseguer, head of the group of Renal Pathophysiology of CIBBIM-VHIR. His project aims to discover new genes and relevant mechanisms that explain the progression of the disease, beyond the gene mutation itself. It is only known that there are two genes involved, the CLC5 and the ORCL, that produce renal and ocular alterations in some of the cases (ORCL). But in addition, there is a significant percentage of patients suffering from the disease without involvement in any of these genes.
Dr. Joan Comella, director of the Vall d’Hebron Research Institute (VHIR), pointed out that “Eva’s project is fascinating. Seeing how a mother fights for her son and how she manages to attract people from all over the world and from all walks of life is exceptional. “ For her part, Dr. Meseguer added that “we are extremely grateful for the support of this project, which aims to investigate using the omics techniques that allow us to know what happens behind the mutation of a cell and thus identify the mechanisms of progression to find targets and cell models to get new drugs”.