The reason behind the creation of an ERA Working Group on Inherited Kidney Disorders:
As physicians, we are deeply concerned by the health care priority represented by inherited kidney diseases in Europe. These diseases represent a heavy physical and psychological burden for the affected patients, often children, and their families. The care of patients with inherited nephropathies suffers from major problems. The rarity of these conditions, and their phenotype variability, implies limited knowledge of the underlying mechanism(s) and natural course, lack of standardisation of diagnostic procedures, fragmentation of the clinical and biological data collections, small cohorts that restrict the power of clinical studies, without mentioning a lack of priority for the pharmaceutical industry and even public funding.
As researchers, we are aware of the necessity to generate and disseminate new scientific knowledge about the causes, mechanisms and consequences of inherited nephropathies. These efforts must involve exchange and networking at the EU level, to develop a global approach based on collaborations between complementary teams using various methodologies. An international collaboration is also crucial to avoid fragmentation of knowledge or duplication of efforts. Increasing knowledge on rare diseases will also yield new insights relevant for more frequent disorders (progression of renal disease, blood pressure control, prevention of renal stones, effect of gender and ageing, multi-systemic involvement of renal diseases, etc…).