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CEN Case Rep ; 12(3): 329-334, 2023 08.
Article in English | MEDLINE | ID: mdl-36576711

ABSTRACT

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that leads to the accumulation of poorly soluble 2,8-dihydroxyadenine (DHA) in the kidneys, resulting in a variety of renal presentations including nephrolithiasis, acute kidney injury, and chronic kidney disease (CKD) caused by crystal nephropathy. Here, we report a case of a 43-year-old man with 2,8-DHA crystalline nephropathy caused by APRT deficiency strongly suspected by renal biopsy results and definitively diagnosed by a urine gas chromatography-mass spectrometry (GC/MS)-based plasma metabolomic assessment. This case represents the importance of awareness and recognition of the signs and symptoms of this rare condition and its progression to CKD, which can be prevented by the early administration of xanthine oxidoreductase inhibitors.


Subject(s)
Kidney Calculi , Renal Insufficiency, Chronic , Urolithiasis , Male , Humans , Adult , Adenine Phosphoribosyltransferase , Urolithiasis/etiology , Urolithiasis/complications , Kidney Calculi/etiology , Renal Insufficiency, Chronic/complications
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