Early Recognition and Management of Rare Kidney Stone Disorders

Ross Goldstein, MD, MBA; David S. Goldfarb, MD


Urol Nurs. 2017;37(2):81-89. 

In This Article

A Renewed Focus on Rare Diseases

A rare disorder is one that affects a very small percentage of a given population. In the United States, a rare disorder is defined as affecting fewer than 200,000 individuals, or approximately 1 in 1,600 individuals (Aronson, 2006). In Europe, it is defined as a disease affecting fewer than 1 in 2,000 individuals (EURORDIS, 2016).

There has been an increasing focus on rare diseases in recent years. The National Human Genome Research Institute recently announced renewed funding for the Centers for Mendelian Genomics, which continues to investigate the genomic basis of rare genetic diseases (National Institutes of Health [NIH], 2016). More relevant to the study of rare kidney stone disorders is the establishment of the Rare Kidney Stone Consortium (RKSC). The Consortium facilitates cooperative exchange of information and resources among investigators, clinicians, patients, and researchers to improve care and outcomes for patients with rare stone diseases (RKSC, 2016).