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

Abstract and Introduction


Kidney stones, especially those that present in childhood/adolescence, may be due to rare inherited disorders such as cystinuria. Early recognition and prompt treatment can help reduce or even prevent the serious long-term complications of these rare stone disorders.


Kidney stones are one of the most common disorders of the urinary tract, affecting about 10% of the general population (Edvardsson et al., 2013). Although kidney stones are most often diagnosed in older adults, they can occur at any age. A recent study reported that the annual incidence of kidney stones increased 16% in the United States between 1997 and 2012, particularly among adolescents, females, and African Americans (Tasian et al., 2016). During this time period, the risk of kidney stones doubled during childhood for both boys and girls, and the lifetime risk for women increased by 45% (Tasian et al., 2016). The highest rate of increase in kidney stones was among adolescent females, and in any given year, stones were more common among females than males aged 10 to 24 years (Tasian et al., 2016).

Kidney stones that present in childhood are often due to rare inherited metabolic disorders. Although these rare stone disorders can present at any age, onset is usually before the third decade of life. Given the severity and chronicity of these conditions, as well as the associated risk of progressive renal injury, the importance of early diagnosis and appropriate management cannot be overemphasized.