Journal Scan

A Deeper Look at Rare and Complex Kidney Diseases

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In an Editorial for the Journal of Nephrology, Dr Dario Roccatello discusses some of the challenges surrounding rare kidney diseases. With more than 150 different conditions—the majority of which are inherited—diagnosing, managing, and treating can be complex, especially when multisystems are involved. Dr Roccatello highlights the difficulty many patients have receiving an accurate diagnosis and the poor quality of life that is often seen in these patients, particularly in children born with severe congenital nephropathies.

Therapeutic advances in rare kidney diseases are lacking, he said. According to Dr Roccatello, the following factors have slowed progress:

  • Unknown genetic defects,
  • Not enough biomarkers to screen disease progression,
  • Heterogeneous clinical phenotypes, and
  • Outdated diagnostic classifications

New initiatives and regulations have focused on rare kidney diseases to help promote the development of therapies, organize optimal health care systems, and encourage research. Dr Roccatello praises patient organizations for being instrumental in bringing much of these objectives to light.

Read the full editorial here.


Roccatello D. A focus on rare and complex kidney diseases. Journal of Nephrology. 2020; February.

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