Early Recognition and Management of Rare Kidney Stone Disorders

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

Urol Nurs. 2017;37(2):81-89.

Summary

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.

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Acknowledgments
This work was supported in part by the Rare Kidney Stone Consortium (U54KD083908), which is a part of the NIH Rare Diseases Clinical Research Network, supported through collaboration between the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Sciences and National Institute of Diabetes and Digestive and Kidney Disease.

Authors' Note
The authors thank Viji Anantharaman of Scientific Communications Group LLC for providing medical writing and editorial assistance, which is funded by Retrophin.

Table 1. Features of Rare Kidney Stone Disorders
	Genetic Defect	Clinical Features	Pathognomonic Feature	Stone Composition
Cystinuria	Mutations in SLC7A9 or SLC3A1 gene coding for proteins required for tubular cystine reabsorption	Recurrent stones; chronic kidney disease	Hexagonal crystals in urine	Cystine
Primary hyperoxaluria	Mutations in gene coding for enzymes of oxalate metabolism (AGT, GRHPR, or HOGA1)	Recurrent radiopaque stones, especially in childhood; nephrocalcinosis, chronic kidney disease	Very high urinary oxalate excretion; oxalate crystal deposition in any biological fluid or tissue	Calcium oxalate
APRT deficiency	Mutations in APRT gene coding for protein required for adenine recycling	Radiolucent kidney stones, recurrent UTI, hematuria, red-brown diaper stains, chronic kidney disease	Round, brown crystals with Maltese cross pattern on polarized light microscopy	DHA
Dent disease	Mutations in CLCN5 or OCRL1 gene coding for proteins responsible for receptor-mediated endocytosis	Proteinuria, hypercalciuria, chronic kidney disease; oculocerebral syndrome if Lowe syndrome	LMW proteinuria	Calcium oxalate/calcium phosphate

Notes: AGT = alanine:glyoxylate aminotransferase, APRT = adenine phosphoribosyltransferase, DHA = 2,8-dihydroxyadenine, GRHPR = glyoxylate reductase/hydroxyl pyruvate reductase, HOGA1 = 4-hydroxy-2-oxaloglutarate aldolase, LMW = low-molecular-weight, UTI = urinary tract infection.

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Early Recognition and Management of Rare Kidney Stone Disorders

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