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01-10-2013 | Review

Hereditary causes of kidney stones and chronic kidney disease

Authors: Vidar O. Edvardsson, David S. Goldfarb, John C. Lieske, Lada Beara-Lasic, Franca Anglani, Dawn S. Milliner, Runolfur Palsson

Published in: Pediatric Nephrology | Issue 10/2013

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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Title: Hereditary causes of kidney stones and chronic kidney disease
Authors: Vidar O. Edvardsson
David S. Goldfarb
John C. Lieske
Lada Beara-Lasic
Franca Anglani
Dawn S. Milliner
Runolfur Palsson
Publication date: 01-10-2013
Publisher: Springer Berlin Heidelberg
Published in: Pediatric Nephrology / Issue 10/2013
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-012-2329-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Hereditary causes of kidney stones and chronic kidney disease

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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