Abstract
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations.
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Acknowledgements
The authors gratefully acknowledge the support of the Rare Kidney Stone Consortium (U54KD083908), a part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network (RDCRN), funded by the NIDDK, and the NIH Office of Rare Diseases Research (ORDR) and the Mayo Clinic O’Brien Urology Research Center (P50 DK083007) funded by the NIDDK. We thank Rachel Miller of the Mayo Clinic Renal Function Laboratory for photomicrographs of cystine, calcium oxalate, and calcium phosphate crystals, and Hrafnhildur L. Runolfsdottir, a medical student at the University of Iceland, Reykjavik, Iceland, for generating the images of urinary DHA crystals. The authors also thank members of the Rare Kidney Stone Consortium for critical feedback during construction of the diagnostic algorithms (Figs. 3, 4, 5, 6 and 7).
Conflict of interest statement
Dr. Goldfarb is a consultant for Takeda.
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Edvardsson, V.O., Goldfarb, D.S., Lieske, J.C. et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol 28, 1923–1942 (2013). https://doi.org/10.1007/s00467-012-2329-z
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DOI: https://doi.org/10.1007/s00467-012-2329-z