Chronic kidney disease (CKD) is a major global health challenge, but within it, rare kidney diseases (RKD) disproportionately affect children and young adults, often leading to kidney failure. Although the causes of RKDs are often poorly understood, new treatments are emerging, making early and accurate diagnosis more critical than ever.
A new policy brief from the Medical Advisory Council of the Global Patient Alliance for Kidney Health underscores this urgency. Developed by a global panel of nephrologists and rare kidney disease experts, the brief highlights that early detection and treatment can significantly slow disease progression and reduce the risk of kidney failure.
Many people living with RKDs are not diagnosed until half of their kidney function is already lost, placing heavy emotional and financial burdens on families. Because routine CKD testing may miss rare forms, diagnosis often requires biopsies, genetic testing or imaging. Early identification enables personalized treatment, clinical trial participation and even helps prevent disease recurrence after transplantation.
Improving diagnosis also benefits society: dialysis for rare kidney disease patients alone costs more than $73 billion annually worldwide.
The policy brief outlines key policy priorities to address this growing burden:
- Expand screening for rare kidney diseases alongside CKD and other noncommunicable diseases.
- Invest in research and evidence generation to accelerate new therapies and clinical trials.
- Raise awareness among policymakers, clinicians and the public about the complexity of diagnosis and the value of early detection.
Addressing the multifaceted burden of rare kidney diseases can improve lives, reduce healthcare costs and strengthen health systems globally.
Read the full brief: “Outsized Impact: Why Identifying the Cause of Rare Kidney Disease Matters.”