"Renal Fanconi syndrome and body fluid homeostasis"
A number of rare diseases are associated with a generalized dysfunction of specific cells in the kidney called proximal tubule cells. This type of dysfunction is called renal Fanconi syndrome (RFS) and leads to an excessive urinary loss of solutes. In turn, these losses cause severe clinical problems including dehydration and electrolyte imbalance, rickets, growth retardation, and progressive renal failure.
The care of such patients presents major challenges, including the lack of standardized diagnostic and clinical procedures, difficulty to recruit patients for clinical studies, a large variability in phenotypes, and a shortage of appropriate models and clinical and biological data.
The major aims of the project are the establishment of a comprehensive registry of patients, the development of new disease models to gain insight into the pathophysiology of RFS, and ultimately the improvement of diagnosis, follow-up and treatment of patients affected by such disorders.