Table 2.
Challenges hindering the provision of targeted care for rare kidney diseases
| Challenges | Description |
|---|---|
| Awareness and prioritization challenges | • Limited prioritization by policy makers and absence of guidelines • Not enough focus on avoiding disease progression and too much focus on managing kidney failure • Limited physician and patient awareness of rare kidney diseases • Limited availability of data on rare kidney diseases • Few patient advocacy groups focused on rare kidney diseasesa |
| Diagnostic challenges | • Limited implementation of urine screening programs to diagnose kidney disease • Limitations of current diagnostic methods • Lack of accurate biomarkers • Limited knowledge of underlying defects of those rare kidney diseases that are genetically determined • Delay in receiving an accurate diagnosis • Limited access to genetic testing |
| Research and development challenges | • Limited availability of targeted treatments • Clinical study design challenges • Poor translation of research developments into clinical care |
| Management challenges | • Lack of specific clinical guidelines • Limited use of existing clinical guidelines by clinicians • Limited access to nephrologist care • Poor management of kidney function decline and progression of the disease • Inequities in the level of access to minimal preventive care, hemodialysis, and transplantation, among countries and patient subgroups • Limited contact time between physicians and patients • Limited access to multidisciplinary teams |
a
Some patient organizations focusing on rare kidney diseases and kidney diseases at large are presented in Table 5.