One more year, Hipofam, the association for information and research on familial hypomagnesemia, shows its commitment to the research of the Renal Pathophysiology group of Vall d'Hebron Research Institute (VHIR), led by Dr. Anna Meseguer, with a new donation of € 15,000. The funds are destined to finance the hiring of the researcher Julieta Torchia, who is doing her doctoral thesis on the study of familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

The research line in familial hypomagnesemia, led by Dr. Anna Meseguer and Dr. Gema Ariceta, head of the Pediatric Nephrology Department at Vall d'Hebron Hospital and researcher of the Renal Pathophysiology group at VHIR, focuses on understanding what biological processes are altered in this disease and analyzing the differences in the speed of progression of the pathology to renal failure among different patients. The main objective of the project is to identify markers of disease progression that allow to identify patients at higher risk of developing chronic kidney disease and, therefore, may require dialysis or transplantation, from those who will have a better evolution.

The possible alterations that could explain this differential progression are studied at the level of the genome (WES), the profiles of microRNAs in extracellular vesicles in the urine (exosomes), as well as in the profile of the microbiota. "The role of the microbiota in the course of this pathology remains poorly understood", explains Dr. Cristina Martínez, Miguel Servet researcher who collaborates in this project in the Renal Pathophysiology group at VHIR, "but our hypothesis is that alterations in short-chain fatty acid-producing bacteria could contribute to the progression of the disease given their protective effect at the renal level".

"These studies, in addition to allowing us to obtain markers of progression, may also provide new targets and therapeutic strategies for an orphan disease for which there is currently no specific treatment, except for supportive care", comments Dr. Meseguer. "The involvement of patient associations such as Hipofam is very important for the continuity of many lines of research as it allows us to recruit new researchers to carry out research projects and, very importantly, to continue research in the field of minority diseases", says Dr. Gerard Cantero-Recasens, junior principal investigator of the Renal Pathophysiology group at VHIR.

Hipofam and VHIR: a 7-year collaboration

The collaboration between Hipofam and VHIR started to materialize in 2015, and since then they have already made 11 donations like this one to reach a total amount of €165,000. In addition, they have also added other contributions to the project thanks to agreements with the Association for Information and Research on Genetic Kidney Diseases (AIRG-E).

"For us, as patients, it is very important to know that this research exists, as it gives us hope and at the same time brings us the opportunity to channel our actions and feel that we are useful to improve the future of our children. Doing nothing has never been a valid option for us", explains Antonio Cabrera, president of Hipofam. The association's donation was made possible thanks to the Castellbisbal town council, which has been collaborating with Hipofam on this project for years, and to a multitude of donations from individuals, collected at fundraising events.

Familial Hypomagnesemia Syndrome

"Familial Hypomagnesemia syndrome with Hypercalciuria and Nephrocalcinosi is a rare renal disease of autosomal recessive inheritance characterized by loss of calcium and magnesium in the urine and impaired renal function. The syndrome is caused by mutations in the genes coding for Claudin-16 or Claudin-19, proteins located in the kidney and involved in the regulation of ionic permeability in the cells of the thick ascending limb of the loop of Henle", explains Dr. Gema Ariceta.