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.

Nephropathy

A nonspecific term referring to disease or damage of the kidneys.


Total: 7

                       


(per page)
PMID (PMCID)
30355577
 MALE Middle Aged
APRT deficiency: the need for early diagnosis.
Huq A, Nand K, Juneja R, Winship I.
BMJ Case Rep. 2018;2018:.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder which leads to accumulation of poorly soluble 2, 8-dihydroxyadenine in kidneys resulting in nephrolithiasis as well as chronic kidney disease from crystal nephropathy.
29657221
 OTHER
Unusual cause of crystalline nephropathy.
Gopalakrishnan N, Rajasekar D, Dhanapriya J, Dineshkumar T, Sakthirajan R, Balasubramaniyan T, Murugesan V.
Saudi J Kidney Dis Transpl. 2018;29(2):462-465.
Adenine phosphoribosyltransferase deficiency is a rare, inherited autosomal recessive disease presenting with 2,8-dihydroxyadenine (DHA) urolithiasis, DHA nephropathy, and chronic kidney disease.
28566603
(5498204)
 MALE Adult
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
Nanmoku K, Kurosawa A, Shinzato T, Shimizu T, Kimura T, Yagisawa T.
Intern Med. 2017;56(11):1387-1391.
Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder that results in irreversible renal damage due to 2, 8-dihydroxyadenine (DHA) nephropathy.
28566603
(5498204)
 MALE Adult
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
Nanmoku K, Kurosawa A, Shinzato T, Shimizu T, Kimura T, Yagisawa T.
Intern Med. 2017;56(11):1387-1391.
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
26684317
 MALE Infant
Obstructive uropathy and severe acute kidney injury from renal calculi due to adenine phosphoribosyltransferase deficiency.
Chong SL, Ng YH.
World J Pediatr. 2016;12(2):243-5.
Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.
15077874
 MALE Adult
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K.
Clin Nephrol. 2004;61(3):217-21.
We report a patient with complete adenine phosphoribosyltransferase deficiency and urolithiasis, in whom 4 consecutive cadaveric renal transplantations were performed; 2,8-dihydroxyadenine crystal nephropathy recurred within weeks in the first and second graft when the patient was not treated with allopurinol immediately after transplantation.
15077874
 MALE Adult
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency.
Eller P, Rosenkranz AR, Mark W, Theurl I, Laufer J, Lhotta K.
Clin Nephrol. 2004;61(3):217-21.
This case indicates that outcome of renal transplantation in patients with adenine phosphoribosyltransferase deficiency critically depends on immediate postoperative pharmacotherapy with allopurinol, which is able to prevent 2, 8-dihydroxyadenine nephropathy in the graft.