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


Rare inherited metabolic disorders should always be included in the differential diagnosis of kidney or urinary stones that present in childhood or adolescence, and never forgotten in adults with unclear causes of recurrent stone disease. Once identified, certain rare stone disorders can be appropriately managed to help decrease stone burden and get patients stone-free. A high index of suspicion, along with early diagnosis and appropriate treatment, can help prevent kidney injury and perhaps the serious long-term complications of rare stone disorders.