Adenine phosphoribosyltransferase deficiency

A rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

Nephritis

The presence of inflammation affecting the kidney.


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PMID (PMCID)
11325702
 MALE Adult
Adenine phosphoribosyltransferase deficiency and renal allograft dysfunction.
Benedetto B, Madden R, Kurbanov A, Braden G, Freeman J, Lipkowitz GS.
Am J Kidney Dis. 2001;37(5):E37.
Further chemical and spectroscopic analysis showed this lesion to be an annular microcrystalline nephritis consistent with APRT deficiency.