Rare Renal Disease in Macedonia - An Update

Area of Science:

• Nephrology
• Genetics
• Rare Diseases

Background:

• Rare renal diseases (RRD) cause substantial patient suffering and societal burden.
• Delayed diagnosis is common, preventing timely and appropriate treatment.
• Molecular genetic advancements offer new avenues for prevention, treatment, and genetic counseling.

Purpose of the Study:

• To summarize the current status of rare renal diseases in Macedonia.
• To highlight research focus areas and international collaborations.
• To identify challenges and opportunities in RRD diagnosis and management.

Main Methods:

• Review of current research and clinical focus in Macedonia.
• Summary of collaborative efforts with international institutions.
• Analysis of diagnostic capabilities and financial obstacles.

Main Results:

• Macedonian research concentrates on the genetics of CAKUT, nephrotic syndrome, nephrolithiasis, cystic diseases, and ciliopathies.
• International collaborations have led to the discovery of new genes and pathways, published in high-impact journals.
• Macedonian health professionals possess diagnostic knowledge and equipment, but face financial limitations.

Conclusions:

• Despite diagnostic expertise, financial constraints impede early and accurate diagnosis of RRD in Macedonia.
• International collaboration and participation in global registries are crucial for advancing RRD research and patient benefit.
• Encouraging participation in international studies can significantly benefit patients, professionals, and scientific understanding of RRD.