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Urolithiasis, 2,8-Dihydroxyadenine

MedGen UID:
777095
•Concept ID:
C3665382
•
Disease or Syndrome
Synonyms: 2,8-Dihydroxyadenine Urolithiasis; 2,8-Dihydroxyadeninuria; DHA Crystalline Nephropathy
 
OMIM®: 614723

Professional guidelines

PubMed

A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis.
Sevcík J, Adam T, Mazácová H
Clin Chim Acta 1996 Feb 9;245(1):85-92. doi: 10.1016/0009-8981(95)06175-4. PMID: 8646818
Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: application to screening of heterozygotes.
Hakoda M, Yamanaka H, Kamatani N, Kamatani N
Am J Hum Genet 1991 Mar;48(3):552-62. PMID: 1998341Free PMC Article

Recent clinical studies

Etiology

Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
Klinkhammer BM, Djudjaj S, Kunter U, Palsson R, Edvardsson VO, Wiech T, Thorsteinsdottir M, Hardarson S, Foresto-Neto O, Mulay SR, Moeller MJ, Jahnen-Dechent W, Floege J, Anders HJ, Boor P
J Am Soc Nephrol 2020 Apr;31(4):799-816. Epub 2020 Feb 21 doi: 10.1681/ASN.2019080827. PMID: 32086278Free PMC Article
Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir HL, Palsson R, Agustsdottir IMS, Indridason OS, Li J, Dao M, Knebelmann B, Milliner DS, Edvardsson VO
Transplantation 2020 Oct;104(10):2120-2128. doi: 10.1097/TP.0000000000003088. PMID: 31880754Free PMC Article
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO
Mol Genet Metab 2019 Sep-Oct;128(1-2):144-150. Epub 2019 May 28 doi: 10.1016/j.ymgme.2019.05.015. PMID: 31378568Free PMC Article
Congenital and acquired diseases related to stone formation.
Veser J, Özsoy M, Seitz C
Curr Opin Urol 2018 Sep;28(5):414-419. doi: 10.1097/MOU.0000000000000522. PMID: 29957682
Genetic defects underlying renal stone disease.
Rumsby G
Int J Surg 2016 Dec;36(Pt D):590-595. Epub 2016 Nov 10 doi: 10.1016/j.ijsu.2016.11.015. PMID: 27838384

Diagnosis

Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO
Mol Genet Metab 2019 Sep-Oct;128(1-2):144-150. Epub 2019 May 28 doi: 10.1016/j.ymgme.2019.05.015. PMID: 31378568Free PMC Article
Advances in Urine Microscopy.
Becker GJ, Garigali G, Fogazzi GB
Am J Kidney Dis 2016 Jun;67(6):954-64. Epub 2016 Jan 22 doi: 10.1053/j.ajkd.2015.11.011. PMID: 26806004
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.
Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. PMID: 24940675
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
2,8-Dihydroxyadenine lithiasis.
Simmonds HA
Clin Chim Acta 1986 Oct 31;160(2):103-8. doi: 10.1016/0009-8981(86)90129-4. PMID: 3780004

Therapy

Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.
Cheng Y, Guo L, Wang M, Chen J, Wang R
Intern Med 2021 Aug 15;60(16):2651-2657. Epub 2021 Mar 8 doi: 10.2169/internalmedicine.6640-20. PMID: 33678741Free PMC Article
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, Sch Agustsdottir IM, Oddsdottir GS, Eiriksson F, Goldfarb DS, Thorsteinsdottir M, Palsson R
Eur J Intern Med 2018 Feb;48:75-79. Epub 2017 Dec 12 doi: 10.1016/j.ejim.2017.10.007. PMID: 29241594Free PMC Article
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
George SA, Al-Rushaidan S, Francis I, Soonowala D, Nampoory MRN
Exp Clin Transplant 2017 Oct;15(5):574-577. Epub 2015 Aug 31 doi: 10.6002/ect.2015.0096. PMID: 27447713
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
2,8-Dihydroxyadenine lithiasis.
Simmonds HA
Clin Chim Acta 1986 Oct 31;160(2):103-8. doi: 10.1016/0009-8981(86)90129-4. PMID: 3780004

Prognosis

Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
Klinkhammer BM, Djudjaj S, Kunter U, Palsson R, Edvardsson VO, Wiech T, Thorsteinsdottir M, Hardarson S, Foresto-Neto O, Mulay SR, Moeller MJ, Jahnen-Dechent W, Floege J, Anders HJ, Boor P
J Am Soc Nephrol 2020 Apr;31(4):799-816. Epub 2020 Feb 21 doi: 10.1681/ASN.2019080827. PMID: 32086278Free PMC Article
Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS, Palsson R
Pediatr Nephrol 2013 Oct;28(10):1923-42. Epub 2013 Jan 20 doi: 10.1007/s00467-012-2329-z. PMID: 23334384Free PMC Article
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
2,8-dihydroxyadeninuria: are there no cases in Scandinavia?
Arnadottir M, Laxdal T, Halldorsdottir B
Scand J Urol Nephrol 2005;39(1):82-6. doi: 10.1080/00365590510007621. PMID: 15764278
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
Takeuchi H, Kaneko Y, Fujita J, Yoshida O
J Urol 1993 Apr;149(4):824-6. doi: 10.1016/s0022-5347(17)36222-5. PMID: 8455250

Clinical prediction guides

Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.
Boussetta A, Karray A, Abida N, Jellouli M, Gargah T
Tunis Med 2022 mai;100(5):410-415. PMID: 36206091Free PMC Article
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.
Runolfsdottir HL, Palsson R, Thorsteinsdottir UA, Indridason OS, Agustsdottir IMS, Oddsdottir GS, Thorsteinsdottir M, Edvardsson VO
Mol Genet Metab 2019 Sep-Oct;128(1-2):144-150. Epub 2019 May 28 doi: 10.1016/j.ymgme.2019.05.015. PMID: 31378568Free PMC Article
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. Epub 2017 Jun 1 doi: 10.2169/internalmedicine.56.8142. PMID: 28566603Free PMC Article
Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.
Runolfsdottir HL, Palsson R, Agustsdottir IM, Indridason OS, Edvardsson VO
Am J Kidney Dis 2016 Mar;67(3):431-8. Epub 2015 Dec 25 doi: 10.1053/j.ajkd.2015.10.023. PMID: 26724837Free PMC Article
Adenine phosphoribosyltransferase deficiency.
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886

Recent systematic reviews

Adenine phosphoribosyl transferase deficiency leads to renal allograft dysfunction in kidney transplant recipients: a systematic review.
Rashid I, Verma A, Tiwari P, D'Cruz S
J Bras Nefrol 2022 Jul-Sep;44(3):403-416. doi: 10.1590/2175-8239-JBN-2021-0283en. PMID: 35635787Free PMC Article

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