1. Rare kidney diseases are medically and socially distinct from common chronic kidney disease
Rare kidney diseases include at least 150 different disorders with highly diverse clinical presentations, causes and specialised care needs. Their overall prevalence is low, and each individual condition affects only a very small number of people. (academic.oup.com)
In contrast, chronic kidney disease (CKD) affects around 10–15% of adults in Europe (with an estimated ~100 million Europeans living with CKD).
https://pmc.ncbi.nlm.nih.gov/articles/PMC8243275
Because rare kidney diseases differ profoundly from common CKD in terms of diagnosis, management, research needs and social impact, it is essential that our organisation’s name clearly signals who we represent.
2. Rare kidney diseases may have different origins
Rare kidney diseases are a heterogeneous group and may arise from different causes, including:
- genetic causes,
- congenital (developmental) abnormalities of the kidney and urinary tract,
- immune-mediated mechanisms, and
- secondary causes, as a consequence of other systemic or metabolic conditions.
Approximately 80% of rare kidney diseases are of genetic origin, while the remaining 20% are due to immune-mediated, congenital or secondary causes.
https://pdfs.semanticscholar.org/ec9b/fede9416d8d1193b6e58fbda32d21df3554b.pdf
This highlights that most rare kidney disorders are inherited, but not all. By explicitly including all rare kidney diseases, regardless of their origin, our Federation ensures that no patient is left unrepresented.
3. The genetic dimension remains central
Most rare kidney diseases have a genetic basis. Genetic kidney diseases can be inherited in different ways:
- Autosomal dominant – only one copy of the altered gene is sufficient to cause the disease and it often affects several generations.
- Autosomal recessive – two copies of the altered gene are required; parents are usually unaffected carriers.
- X-linked – the disease-causing gene is located on the X chromosome and typically affects males more severely, while females may be carriers or mildly affected.
- Mitochondrial – caused by mutations in mitochondrial DNA, usually inherited from the mother.
The genetic nature of many rare kidney diseases has major implications not only for diagnosis and treatment, but also for family planning, genetic counselling, access to clinical trials and long-term care planning. Including the genetic dimension in our name helps patients, professionals and policymakers clearly recognise the specific expertise and advocacy provided by our Federation.
It is also important to acknowledge that some genetic kidney diseases, such as Alport syndrome or polycystic kidney disease (PKD), are not always classified as “rare” in all national or international systems because of their comparatively higher prevalence. Nevertheless, these conditions remain genetic, lifelong and highly specialised diseases, associated with complex clinical, psychosocial and family-related challenges. They are therefore fully aligned with the mission of our Federation and with the need to explicitly include genetic kidney diseases in our name.
At the same time, explicitly recognising immune-mediated, congenital and secondary rare kidney diseases ensures inclusiveness and comprehensive representation of the entire rare kidney disease community.
4. A name focused on rare and genetic kidney diseases improves visibility and access to support
Being clearly identified as a federation of patients affected by rare or genetic kidney diseases increases our visibility to European institutions, research networks and funding bodies that prioritise rare disease collaboration and research. It also clearly differentiates our mission from broader CKD organisations that represent much larger and more heterogeneous patient populations.
In summary, our name reflects:
- the strategic clarity needed to advocate effectively at the European level.
- the clinical and social distinctiveness of rare kidney diseases,
- the inclusion of all rare kidney patients, regardless of their underlying cause,
- the central role of genetics and congenital conditions and their long-term implications, and