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Authors
Edvardsson, Vidar OGoldfarb, David S
Lieske, John C
Beara-Lasic, Lada
Anglani, Franca
Milliner, Dawn S
Palsson, Runolfur
Issue Date
2013-10
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Pediatr. Nephrol. 2013, 28 (10):1923-42Abstract
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.Description
To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field.Additional Links
http://dx.doi.org/10.1007/s00467-012-2329-zRights
Archived with thanks to Pediatric nephrology (Berlin, Germany)ae974a485f413a2113503eed53cd6c53
10.1007/s00467-012-2329-z
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