The Association for Information and Research on Genetic Kidney Diseases (AIRG-Spain) will fund with € 10,000 a project of the Kidney Pathophysiology group of Vall d'Hebron Institute of Research (VHIR) to study the contribution of the intestinal microbiota in the evolution of patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (HFHNC), led by Dr. Gema Ariceta and Dr. Cristina Martinez. The grants were made public in the framework of the 19th Annual Meeting of the AIRG-Spain, in which Dr. Anna Meseguer, head of the Kidney Pathophysiology group at VHIR, participated with a talk on the novelties in gene therapy.

HFHNC syndrome is an inherited rare disease, caused by mutations in the Claudin-16 or Claudin-19 genes, which progresses to chronic kidney disease and renal failure at very early ages. It is a pathology with great variability among patients, even among those with the same mutation: while some have very severe symptoms and progress very rapidly, in other cases the evolution is slower. "We think that, in addition to genetic factors, there are other environmental factors that can modulate the disease. Identifying what these factors are could help to develop new therapies for these patients, who currently have no treatment available", explains Dr. Gema Ariceta, head of the Pediatric Nephrology Department at Vall d'Hebron University Hospital and principal investigator of the project in the Kidney Pathophysiology group at VHIR.

The project is based on an innovative research line focused on studying the contribution of the composition and activity of the intestinal microbiota in the evolution of HFHNC. "The microbiota is a reflection of changes in diet, exposure to chemicals, viral infections, geographical location... and, therefore, it mirrors how the environment affects health", says Dr. Cristina Martinez, Miguel Servet researcher who is the co-principal investigator of the project in the Kidney Pathophysiology group at VHIR. In the work, new biomarkers based on the metabolism of intestinal bacteria that are related to the clinical evolution of the disease will be studied.

The results obtained are expected to be useful to design new therapeutic strategies focused on modulating intestinal metabolism, in order to contribute to slow down or stop the progression of renal failure in patients with HFHNC, or even other rare kidney diseases.