A study conducted by the Renal Pathophysiology Research Group from the Vall d'Hebron Research Institute (VHIR), together with the Pediatric Nephrology Service from Vall d'Hebron University Hospital, was recently awarded at the 47th edition of the AENP Congress held in Bilbao. The AENP is a scientific association with more than 50 years of experience that promotes the development of paediatric nephrology in Spain, in educational, healthcare, clinical, and research fields, fostering relationships with other national and international associations.

The awarded presentation was "Patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis present miRNA profiles in urinary extracellular vesicles associated with disease progression". This study aims to identify the mechanisms of disease progression in Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) and to understand why patients show different phenotypes that include rapid versus slow renal function loss with or without ocular involvement, despite having the same mutation (pG20D) in the Claudin 19 gene. It is an ultra-rare hereditary disease characterized by renal loss of calcium and magnesium, which can lead to end-stage renal failure requiring kidney transplantation within a few months of life in severe cases, and for which there is no specific treatment.

The research team isolated extracellular vesicles from the urine of patients with FHHNC to compare differential miRNA expression profiles between patients and healthy individuals, and between patients with different disease progression. The association of specific miRNAs with the disease and its progression has allowed the identification of possible non-invasive urinary biomarkers of clinical relevance and the proposal of potential therapies through the modulation of these miRNAs' expression. Additionally, this study has partially enabled us to understand the molecular mechanisms of disease progression and to define potential therapeutic targets and solutions using artificial intelligence algorithms.

This project has been made possible thanks to the participation of the Association for Information and Research on Familial Hypomagnesemia (HIPOFAM).