Long-term renal outcomes of APRT deficiency presenting in childhood.

ABSTRACT:

Background

Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD). The purpose of this study was to examine the course of APRT deficiency in patients who presented in childhood.

Methods

The disease course of 21 (35%) patients in the APRT Deficiency Registry of the Rare Kidney Stone Consortium, who presented with manifestations of APRT deficiency and/or were diagnosed with the disorder before the age of 18 years, was studied. The effect of pharmacotherapy on renal manifestations and outcomes was thoroughly assessed.

Results

Fourteen children were placed on allopurinol, 100 (25-200) mg/day, at the age of 2.6 (0.6-16.5) years. Six of these patients had experienced kidney st

SUBMITTER: Runolfsdottir HL 

PROVIDER: S-EPMC6349544 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature