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.

Renal insufficiency

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.


Total: 2

                       


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PMID (PMCID)
21304254
 FEMALE
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Ikeda H, Watanabe T, Fujimoto Y, Yamamoto S, Hosaki I, Isoyama K, Kawano S, Chiba M.
Hinyokika Kiyo. 2011;57(1):15-9.
Since APRT deficiency can be treated to prevent its progression to renal insufficiency, it is important to detect APRT gene mutations and make a definite diagnosis early.
1516930
 MALE Middle Aged
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis.
Gelb AB, Fye KH, Tischfield JA, Sahota AS, Sparks JW, Hancock DC, Sibley RK.
Hum Pathol. 1992;23(9):1081-5.
Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis.