Adenine phosphoribosyltransferase deficiency
- PMID: 22700886
- DOI: 10.2215/CJN.02320312
Adenine phosphoribosyltransferase deficiency
Abstract
Complete adenine phosphoribosyltransferase (APRT) deficiency is a rare inherited metabolic disorder that leads to the formation and hyperexcretion of 2,8-dihydroxyadenine (DHA) into urine. The low solubility of DHA results in precipitation of this compound and the formation of urinary crystals and stones. The disease can present as recurrent urolithiasis or nephropathy secondary to crystal precipitation into renal parenchyma (DHA nephropathy). The diagnostic tools available-including stone analysis, crystalluria, and APRT activity measurement-make the diagnosis easy to confirm when APRT deficiency is suspected. However, the disease can present at any age, and the variability of symptoms can present a diagnostic challenge to many physicians. The early recognition and treatment of APRT deficiency are of crucial importance for preventing irreversible loss of renal function, which still occurs in a non-negligible proportion of cases. This review summarizes the genetic and metabolic mechanisms underlying stone formation and renal disease, along with the diagnosis and management of APRT deficiency.
Similar articles
-
2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940675 Review.
-
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.Exp Clin Transplant. 2017 Oct;15(5):574-577. doi: 10.6002/ect.2015.0096. Epub 2015 Aug 31. Exp Clin Transplant. 2017. PMID: 27447713
-
Long-term renal outcomes of APRT deficiency presenting in childhood.Pediatr Nephrol. 2019 Mar;34(3):435-442. doi: 10.1007/s00467-018-4109-x. Epub 2018 Nov 15. Pediatr Nephrol. 2019. PMID: 30443743 Free PMC article.
-
Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects.Mol Genet Metab. 2019 Sep-Oct;128(1-2):144-150. doi: 10.1016/j.ymgme.2019.05.015. Epub 2019 May 28. Mol Genet Metab. 2019. PMID: 31378568 Free PMC article.
-
[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination].Nihon Jinzo Gakkai Shi. 1994 Oct;36(10):1191-5. Nihon Jinzo Gakkai Shi. 1994. PMID: 7815752 Review. Japanese.
Cited by
-
Adenine Phosphoribosyltransferase Deficiency: A Potentially Reversible Cause of CKD.Kidney Int Rep. 2019 May 7;4(8):1161-1170. doi: 10.1016/j.ekir.2019.04.021. eCollection 2019 Aug. Kidney Int Rep. 2019. PMID: 31440706 Free PMC article. No abstract available.
-
Correction of the aprt Gene Using Repair-Polypurine Reverse Hoogsteen Hairpins in Mammalian Cells.Mol Ther Nucleic Acids. 2020 Mar 6;19:683-695. doi: 10.1016/j.omtn.2019.12.015. Epub 2019 Dec 24. Mol Ther Nucleic Acids. 2020. PMID: 31945727 Free PMC article.
-
Monogenic Kidney Diseases in Kidney Transplantation.Kidney Int Rep. 2023 Dec 13;9(3):549-568. doi: 10.1016/j.ekir.2023.12.003. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481491 Free PMC article. Review.
-
A Rare Case of APRT Deficiency with End-stage Renal Failure and Successful Renal Transplant.Indian J Nephrol. 2021 Jan-Feb;31(1):57-60. doi: 10.4103/ijn.IJN_202_19. Epub 2021 Jan 27. Indian J Nephrol. 2021. PMID: 33994690 Free PMC article.
-
APRT deficiency: the need for early diagnosis.BMJ Case Rep. 2018 Oct 23;2018:bcr2018225742. doi: 10.1136/bcr-2018-225742. BMJ Case Rep. 2018. PMID: 30355577 Free PMC article.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical
