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Genetic Contributors to Kidney Stones in Children

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Diagnosis and Management of Pediatric Nephrolithiasis

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Abstract

Hereditary causes of nephrolithiasis are a group of rare diseases that carry significant morbidity and even mortality. They often go unrecognized or misdiagnosed and have the potential to cause progressive renal disease. Recurrent kidney stones or nephrocalcinosis in a prepubertal child should raise the concern about this group of diseases and any possible inborn errors of metabolism. Fortunately, early diagnosis and novel therapies can transform these hereditary diseases into manageable conditions and spare the patient progressive and often irreversible kidney damage. In this chapter, we review the epidemiology, pathophysiology, clinical presentation, diagnosis, and treatment of adenine phosphoribosyltransferase (APRT) deficiency, Dent disease, cystinuria, primary hyperoxaluria, and Lesch-Nyhan syndrome.

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Authors and Affiliations

  1. Department of Pediatrics, Division of Nephrology, Drexel College of Medicine, St. Christopher’s Hospital for Children, Philadelphia, PA, USA

    German Lozano Guzman & Joshua J. Zaritsky

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  1. German Lozano Guzman
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  2. Joshua J. Zaritsky
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Correspondence to German Lozano Guzman .

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Editors and Affiliations

  1. Department of Pediatrics, Division of Nephrology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Neil J. Paloian

  2. Department of Urology, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA

    Kristina L. Penniston

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Guzman, G.L., Zaritsky, J.J. (2022). Genetic Contributors to Kidney Stones in Children. In: Paloian, N.J., Penniston, K.L. (eds) Diagnosis and Management of Pediatric Nephrolithiasis. Springer, Cham. https://doi.org/10.1007/978-3-031-07594-0_3

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  • DOI: https://doi.org/10.1007/978-3-031-07594-0_3

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