Nacho is a 6-year-old child who was diagnosed when he was 3 with the Dent’s disease; a rare untreatable disease which may result in renal failure. Since the diagnosis, his parents have not stop to reverse this situation getting researchers to investigate in order to curb the disease. Now, 3 years after the diagnosis, they have made a donation of 127,320 euros for research at Vall d’Hebron University Hospital, and other 110,000 euros also for research at the Nuestra Señora de Candelaria University Hospital in Tenerife.
All entered funds have been collected in less than two years, thanks to the solidarity of thousands and the perseverance and effort of Nacho’s parents. His mother, Eva, who has multiple sclerosis, did the Titan Desert in 2013, and she is now preparing to pedal at the Epic GAES Atacama in Chile, to raise funds for the disease.
Dent’s disease is a rare hereditary disease linked to chromosome X, which is characterized by alterations in the proximal renal tubule resulting in proteinuria, hypercalciuria and nephrocalcinosis. In other words, patients expel through urine proteins, phosphorus and glucose that the body needs. All this makes the patients evolved into a renal terminal disease and fibrosis.
In regards to the research on the disease, it is only known that there are two genes involved, the CLC5 and the ORCL, which produce kidney and eye disorders some cases (ORCL). But in addition, there is an IMPORTANT percentage of patients suffering the disease without the involvement of any of these genes.
At Vall d’Hebron Research Institute (VHIR) the research on the Dent’s disease is lead by doctors Gema Ariceta, head of the hospital’s Paediatric Nephrology Service and Nacho’s doctor, and Ana Meseguer, head of the Renal Pathophysiology group of the CIBBIM-VHIR. Their project aims to discover new relevant genes and mechanisms to explain the progression of the disease, beyond of the gene mutation itself. In this way, Dr. Ariceta assures that “we will be able to get new biomarkers and potential therapeutic targets that allow us to develop new drugs to mitigate the progression of the Dent’s disease”.
Currently, the number of families identified with the disease are 411 around the world, and clinical trials for this patients have never been carried out.