Dozens of inherited diseases affect the kidney; collectively, they account for at least 10% of patients with end-stage renal disease in Europe [1]. The underlying genetic defects may affect all structures and cell types of the nephron and may therefore compromise all aspects of kidney function. In addition, extra-renal involvement is frequently associated. In terms of frequency, inherited kidney disorders vary from relatively frequent diseases, such as autosomal dominant polycystic kidney disease (ADPKD, that arguably affects one in every 1000 person), to ‘rare’ diseases that, by definition, affect less than five persons in every 10 000.

Inherited kidney diseases concern a large number of patients in Europe and have a negative impact on the quality of life of the patients, who are often children, and of family members and relatives [2–5]. Most of these diseases are chronically debilitating conditions; some are life threatening. Low incidence, frequent phenotypic variability, lack of standardized diagnostic procedures and fragmentation of clinical and biological data (obtained mostly from small cohorts) limit our knowledge of many inherited disorders. These limitations include not only the underlying molecular mechanism(s) of disease but also the natural course and the impact of the diseases on quality of life, hampering possibilities to perform clinical studies and hindering progress in diagnosis and treatment [6, 7]. Furthermore, the low prevalence of such disorders implies a lack of priority for the pharmaceutical industry. The uneven perception of the impact of these diseases on the health care burden is reflected by discrepancies in public and private funding schemes across European …

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