Page last updated: 2024-10-16

adenine and Urinary Lithiasis

adenine has been researched along with Urinary Lithiasis in 21 studies

Research Excerpts

ExcerptRelevanceReference
"We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 65-year-old male."8.02[A Case Report of 2,8-Dihydroxyadenine Urolithiasis]. ( Horiuchi, E; Imamura, T; Miyachi, S, 2021)
"We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones."7.96Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. ( Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA, 2020)
"2,8-Dihydroxyadenine (2,8-DHA) urolithiasis in people is caused by autosomal recessive mutations in the adenine phosphoribosyltransferase gene (APRT)."7.80An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. ( Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ, 2014)
"Adenine phosphoribosyl transferase (APRT) deficiency is an autosomal recessive disorder and a rare cause of urolithiasis due to mutations in APRT (OMIM #102600)."5.41Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review. ( Cham, BWM; Chong, SL; Koh, AL; Leow, EH; Ng, YH; Tan, ES; Yap, CJY, 2023)
"Adenine phosphoribosyltransferase (APRT) deficiency is a genetic disorder that causes 2,8-dihydroxyadenine (DHA) urolithiasis."4.84[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. ( Taniguchi, A, 2008)
"We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 65-year-old male."4.02[A Case Report of 2,8-Dihydroxyadenine Urolithiasis]. ( Horiuchi, E; Imamura, T; Miyachi, S, 2021)
"We have recently encountered patients incorrectly diagnosed with adenine phosphoribosyltransferase (APRT) deficiency due to misidentification of kidney stones as 2,8-dihydroxyadenine (DHA) stones."3.96Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. ( Edvardsson, VO; Goldfarb, DS; Ketteridge, D; Lin, TL; Michael, M; Palsson, R; Rich, PR; Runolfsdottir, HL; Sayer, JA, 2020)
"Adenine phosphoribosyltransferase (APRT) deficiency is a hereditary purine metabolism disorder that causes kidney stones and chronic kidney disease (CKD)."3.91Long-term renal outcomes of APRT deficiency presenting in childhood. ( Agustsdottir, IM; Edvardsson, VO; Indridason, OS; Palsson, R; Runolfsdottir, HL, 2019)
"Adenine phosphoribosyltransferase (APRT) deficiency is a rare, but significant, cause of kidney stones and progressive chronic kidney disease."3.88Comparison 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; Eiriksson, F; Goldfarb, DS; Oddsdottir, GS; Palsson, R; Runolfsdottir, HL; Sch Agustsdottir, IM; Thorsteinsdottir, M; Thorsteinsdottir, UA, 2018)
"2,8-Dihydroxyadenine (2,8-DHA) urolithiasis in people is caused by autosomal recessive mutations in the adenine phosphoribosyltransferase gene (APRT)."3.80An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs. ( Furrow, E; Lulich, JP; Osborne, CA; Pfeifer, RJ, 2014)
"Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive disorder manifesting as urolithiasis or crystalline nephropathy."3.80Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. ( Hemmilä, U; Kaartinen, K; Kouri, T; Mäkelä, S; Räisänen-Sokolowski, A; Salmela, K, 2014)
" After a genetic diagnosis, febuxostat treatment was started on postoperative day 7, with the dosage gradually increased to 80 mg/day until complete the disappearance of 2,8-DHA crystals."1.46Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. ( Kimura, T; Kurosawa, A; Nanmoku, K; Shimizu, T; Shinzato, T; Yagisawa, T, 2017)

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (9.52)29.6817
2010's14 (66.67)24.3611
2020's5 (23.81)2.80

Authors

AuthorsStudies
Miyachi, S1
Imamura, T1
Horiuchi, E1
Leow, EH1
Chong, SL1
Tan, ES1
Koh, AL1
Cham, BWM1
Yap, CJY1
Ng, YH1
Bagai, S1
Khullar, D1
Bansal, B1
Klinkhammer, BM1
Djudjaj, S1
Kunter, U1
Palsson, R5
Edvardsson, VO5
Wiech, T1
Thorsteinsdottir, M3
Hardarson, S1
Foresto-Neto, O1
Mulay, SR1
Moeller, MJ1
Jahnen-Dechent, W1
Floege, J1
Anders, HJ1
Boor, P1
Runolfsdottir, HL4
Lin, TL1
Goldfarb, DS2
Sayer, JA1
Michael, M1
Ketteridge, D1
Rich, PR1
Cheng, Y1
Guo, L1
Wang, M1
Chen, J1
Wang, R1
Nanmoku, K1
Kurosawa, A1
Shinzato, T1
Shimizu, T1
Kimura, T1
Yagisawa, T1
Thorsteinsdottir, UA2
Sch Agustsdottir, IM1
Oddsdottir, GS1
Eiriksson, F1
Oomatia, A1
Dupont, P1
Bass, P1
Moochhala, S1
Agustsdottir, IM2
Indridason, OS1
Lau, NKC1
Ng, SKW1
Chan, IHS1
Ng, KS1
Kwok, JSS1
Furrow, E1
Pfeifer, RJ1
Osborne, CA1
Lulich, JP1
Kaartinen, K1
Hemmilä, U1
Salmela, K1
Räisänen-Sokolowski, A1
Kouri, T1
Mäkelä, S1
Yamaguchi, S1
Haba, T1
Koike, H1
George, SA1
Al-Rushaidan, S1
Francis, I1
Soonowala, D1
Nampoory, MRN1
Eiriksson, FF1
Oddsdottir, S1
Sigurdsson, BB1
Hardarson, HK1
Kamble, NR1
Sigurdsson, ST1
Fabbiani, M1
Bracciale, L1
Doino, M1
D'Avino, A1
Marzocchetti, A1
Navarra, P1
Cauda, R1
De Luca, A1
Di Giambenedetto, S1
Nozue, H1
Kamoda, T1
Saitoh, H1
Ichikawa, K1
Taniguchi, A2
Bollée, G1
Harambat, J1
Bensman, A1
Knebelmann, B1
Daudon, M1
Ceballos-Picot, I1
D'Ettorre, G1
Zaffiri, L1
Ceccarelli, G1
Massetti, AP1
Mastroianni, CM1
Vullo, V1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Pilot Study for the Evaluation of the Safety and the Feasibility of Treatment Simplification to Atazanavir/Ritonavir + Lamivudine in Patients Stably Treated With Two NRTIs + Atazanavir/Ritonavir With Optimal Virologic Response.[NCT00885482]Phase 440 participants (Actual)Interventional2009-05-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

Number of Patients With Virological Failure (Two Consecutive Measures of HIV-RNA Higher Than 50 Copies/mL or a Single Measure Higher Than 1000 Copies/mL) Within 48 Weeks at intention-to.Treat Analysis

(NCT00885482)
Timeframe: 48 weeks

Interventionpatients (Number)
Single Arm1

Reviews

5 reviews available for adenine and Urinary Lithiasis

ArticleYear
Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.
    Nephrology (Carlton, Vic.), 2023, Volume: 28, Issue:12

    Topics: Adenine; Adenine Phosphoribosyltransferase; Child; Humans; Male; Microscopy; Urinalysis; Urolithiasi

2023
Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.
    Internal medicine (Tokyo, Japan), 2021, Aug-15, Volume: 60, Issue:16

    Topics: Adenine; Adenine Phosphoribosyltransferase; Humans; Kidney Transplantation; Urolithiasis

2021
[A Case Report of 2,8-Dihydroxyadenine Stone].
    Hinyokika kiyo. Acta urologica Japonica, 2015, Volume: 61, Issue:7

    Topics: Adenine; Adenine Phosphoribosyltransferase; Female; Humans; Metabolism, Inborn Errors; Middle Aged;

2015
Adenine phosphoribosyltransferase deficiency.
    Clinical journal of the American Society of Nephrology : CJASN, 2012, Volume: 7, Issue:9

    Topics: Adenine; Adenine Phosphoribosyltransferase; Allopurinol; Animals; Biomarkers; Disease Progression; E

2012
[Adenine phosphoribosyltransferase deficiency and its purine metabolism].
    Nihon rinsho. Japanese journal of clinical medicine, 2008, Volume: 66, Issue:4

    Topics: Adenine; Adenine Phosphoribosyltransferase; Alleles; Asian People; Genotype; Humans; Mutation; Purin

2008

Trials

1 trial available for adenine and Urinary Lithiasis

ArticleYear
Tenofovir discontinuation could predispose to urolithiasis in atazanavir-treated patients.
    The Journal of infection, 2011, Volume: 62, Issue:4

    Topics: Adenine; Adult; Anti-HIV Agents; Atazanavir Sulfate; Drug Administration Schedule; Drug Therapy, Com

2011

Other Studies

15 other studies available for adenine and Urinary Lithiasis

ArticleYear
[A Case Report of 2,8-Dihydroxyadenine Urolithiasis].
    Hinyokika kiyo. Acta urologica Japonica, 2021, Volume: 67, Issue:9

    Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Humans; Kidney Calculi; Lithotripsy; Male; Metabol

2021
Rare crystalline nephropathy leading to acute graft dysfunction: a case report.
    BMC nephrology, 2019, 11-21, Volume: 20, Issue:1

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Antimetabolites; Biopsy; Crystalliza

2019
Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
    Journal of the American Society of Nephrology : JASN, 2020, Volume: 31, Issue:4

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Animals; Cohort Studies; Diet; Disease Models, An

2020
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series.
    Urolithiasis, 2020, Volume: 48, Issue:4

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Child; Child, Preschool; Female; Huma

2020
Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation.
    Internal medicine (Tokyo, Japan), 2017, Volume: 56, Issue:11

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Febuxostat; Gout Suppressants; Humans; Kidney Tra

2017
Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with Adenine phosphoribosyltransferase deficiency (APRTd): A clinical trial.
    European journal of internal medicine, 2018, Volume: 48

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Aged; Allopurinol; Cross-Over Studies; Enzyme Inh

2018
The Case | Shining a light on an unusual case of chronic kidney disease.
    Kidney international, 2018, Volume: 93, Issue:4

    Topics: Adenine; Adenine Phosphoribosyltransferase; Aged; Biopsy; Crystallization; Humans; Kidney; Male; Met

2018
Long-term renal outcomes of APRT deficiency presenting in childhood.
    Pediatric nephrology (Berlin, Germany), 2019, Volume: 34, Issue:3

    Topics: Acute Kidney Injury; Adenine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Allopurinol; Chi

2019
Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient.
    Pathology, 2019, Volume: 51, Issue:5

    Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Early Diagnosis; Humans;

2019
An APRT mutation is strongly associated with and likely causative for 2,8-dihydroxyadenine urolithiasis in dogs.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:3

    Topics: Adenine; Adenine Phosphoribosyltransferase; Animals; Dogs; High-Throughput Nucleotide Sequencing; Ho

2014
Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction.
    Journal of the American Society of Nephrology : JASN, 2014, Volume: 25, Issue:4

    Topics: Adenine; Adenine Phosphoribosyltransferase; Allografts; Humans; Kidney Calculi; Kidney Transplantati

2014
2,8-Dihydroxyadenine Nephropathy Identified as Cause of End-Stage Renal Disease After Renal Transplant.
    Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation, 2017, Volume: 15, Issue:5

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Allopurinol; Biomarkers; Biopsy; Enzyme Inhibitor

2017
Quantitative UPLC-MS/MS assay of urinary 2,8-dihydroxyadenine for diagnosis and management of adenine phosphoribosyltransferase deficiency.
    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2016, Nov-15, Volume: 1036-1037

    Topics: Adenine; Adenine Phosphoribosyltransferase; Adult; Chromatography, High Pressure Liquid; Humans; Lim

2016
A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
    Acta paediatrica (Oslo, Norway : 1992), 2011, Volume: 100, Issue:12

    Topics: Adenine; Adenine Phosphoribosyltransferase; Asian People; Child, Preschool; Humans; Lithotripsy; Mal

2011
Urolithiasis under atazanavir boosted and tenofovir therapy: a case report.
    Journal of chemotherapy (Florence, Italy), 2008, Volume: 20, Issue:1

    Topics: Adenine; Adult; Anti-HIV Agents; Antiviral Agents; Atazanavir Sulfate; HIV Infections; Humans; Male;

2008