Published: 12 December 2017
Author(s): Vidar O. Edvardsson, Hrafnhildur L. Runolfsdottir, Unnur A. Thorsteinsdottir, Inger M. Sch. Agustsdottir, G. Steinunn Oddsdottir, Finnur Eiriksson, David S. Goldfarb, Margret Thorsteinsdottir, Runolfur Palsson
Section: Original Article

Adenine phosphoribosyltransferase (APRT) deficiency is a rare, but significant, cause of kidney stones and progressive chronic kidney disease. The optimal treatment has not been established. The purpose of this pilot study was to compare the effect of the xanthine oxidoreductase inhibitors allopurinol and febuxostat on urinary 2,8-dihydroxyadenine (DHA) excretion in APRT deficiency patients.


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