A case of 2,8-DHA crystalline nephropathy caused by adenine phosphoribosyltransferase deficiency: diagnosis and treatment

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.

Automated summary

Adenine phosphoribosyltransferase (APRT) deficiency, a rare genetic disorder, causes the accumulation of poorly soluble 2,8-dihydroxyadenine (DHA) in the kidneys, leading to various renal problems such as nephrolithiasis, acute kidney injury, and chronic kidney disease (CKD) due to crystal nephropathy. We present a case of a 43-year-old man with 2,8-DHA crystalline nephropathy caused by APRT deficiency, diagnosed definitively by urine gas chromatography-mass spectrometry (GC/MS)-based plasma metabolomics. This case highlights the importance of recognizing the signs, symptoms, and progression of this rare condition to CKD, which can be prevented by early administration of xanthine oxidoreductase inhibitors.