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 Kidney Stone Disorders

The inherited rare kidney stone disorders studied by the RKSC include cystinuria, primary hyperoxaluria, adenine phosphoribosyltransferase (APRT) deficiency, and Dent disease (see Table 1). These diseases are characterized by urinary hyperexcretion of insoluble mineral salts, leading to recurrent kidney stones or increased renal calcium deposition (Edvardsson et al., 2013). Other genetic causes of kidney stones are being identified as the ability to genotype more affected individuals becomes faster and less expensive (Braun et al., 2016).

Patients with rare stone diseases are more likely than other types of stone formers to develop chronic kidney disease, which can progress to end stage renal disease (ESRD) (Rule, Krambeck, & Lieske, 2011). Failure to recognize these diseases may lead to diagnostic delay and preventable renal injury (Edvardsson et al., 2013).

Inherited rare stone diseases should always be considered in the differential diagnosis of stones that occur in children (Edvardsson et al., 2013). Recurrent stones, particularly in pre-pubertal children, should elicit workup for inborn errors of metabolism. All children with reduced kidney function with or without stone disease should undergo metabolic screening for cystinuria, primary hyperoxaluria, APRT deficiency, and Dent disease (Edvardsson et al., 2013).

Diagnostic workup should include a stone analysis, urine chemistry (preferably using 24-hour urine collection), and microscopic examination of urine (Edvardsson et al., 2013). A high index of suspicion along with early diagnosis and treatment may reduce or even prevent the serious long-term complications of these rare stone disorders (Edvardsson et al., 2013).