2,8-Dihydroxyadenine (BioDeep_00000025205)

 

Secondary id: BioDeep_00000603628

human metabolite Endogenous


代谢物信息卡片


6-Amino-1H-purine-2,8(3H,7H)-dione

化学式: C5H5N5O2 (167.04432300000002)
中文名称: 2,8-二羟基腺嘌呤
谱图信息: 最多检出来源 Homo sapiens(blood) 1.13%

分子结构信息

SMILES: C12=C(NC(=O)N=C1NC(=O)N2)N
InChI: InChI=1S/C5H5N5O2/c6-2-1-3(9-4(11)7-1)10-5(12)8-2/h(H5,6,7,8,9,10,11,12)

描述信息

2,8-Dihydroxyadenine is a Purine metabolite usually not detectable in biofluids of normal individuals; this insoluble metabolite (at physiological urinary pH) cause urinary tract calculi and arthritis, and is identified in Adenine phosphoribosyltransferase deficiency (APRT, OMIM 102600). (PMID 16613999) In APRT, 2,8-dihydroxyadenine (DHA) accumulates in crystals within the tubular lumens (a feature of many kidney stone diseases) creating crystal-induced injury in human kidney epithelial cells. (PMID 16374038) Urinary DHA crystals are easily recognized under a microscope, and effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis; treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. (PMID 15764278) [HMDB]
2,8-Dihydroxyadenine is a Purine metabolite usually not detectable in biofluids of normal individuals; this insoluble metabolite (at physiological urinary pH) cause urinary tract calculi and arthritis, and is identified in Adenine phosphoribosyltransferase deficiency (APRT, OMIM 102600). (PMID 16613999) In APRT, 2,8-dihydroxyadenine (DHA) accumulates in crystals within the tubular lumens (a feature of many kidney stone diseases) creating crystal-induced injury in human kidney epithelial cells. (PMID 16374038) Urinary DHA crystals are easily recognized under a microscope, and effective treatment can be offered and therefore the prognosis depends upon the renal function at diagnosis; treatment consists of adequate fluid intake, a low-purine diet and administration of allopurinol. (PMID 15764278).

同义名列表

9 个代谢物同义名

6-Amino-1H-purine-2,8(3H,7H)-dione; (6R)-2,6-2,8-Dihydroxyadenine; 6-Amino-2,8-dihydroxypurine; 6-Amino-7H-purine-2,8-diol; 6-Amino-purine-2,8-diol; Dimethyloctanoic acid; 2,8-Dihydroxyadenine; Dimethyloctanoate; 2,8-Dioxyadenine



数据库引用编号

11 个数据库交叉引用编号

分类词条

相关代谢途径

Reactome(0)

BioCyc(0)

PlantCyc(0)

代谢反应

0 个相关的代谢反应过程信息。

Reactome(0)

BioCyc(0)

WikiPathways(0)

Plant Reactome(0)

INOH(0)

PlantCyc(0)

COVID-19 Disease Map(0)

PathBank(0)

PharmGKB(0)

1 个相关的物种来源信息

在这里通过桑基图来展示出与当前的这个代谢物在我们的BioDeep知识库中具有相关联信息的其他代谢物。在这里进行关联的信息来源主要有：

  • PubMed: 来源于PubMed文献库中的文献信息，我们通过自然语言数据挖掘得到的在同一篇文献中被同时提及的相关代谢物列表，这个列表按照代谢物同时出现的文献数量降序排序，取前10个代谢物作为相关研究中关联性很高的代谢物集合展示在桑基图中。
  • NCBI Taxonomy: 通过文献数据挖掘，得到的代谢物物种来源信息关联。这个关联信息同样按照出现的次数降序排序，取前10个代谢物作为高关联度的代谢物集合展示在桑吉图上。
  • Chemical Taxonomy: 在物质分类上处于同一个分类集合中的其他代谢物
  • Chemical Reaction: 在化学反应过程中，存在为当前代谢物相关联的生化反应过程中的反应底物或者反应产物的关联代谢物信息。

点击图上的相关代谢物的名称，可以跳转到相关代谢物的信息页面。



文献列表

  • Julia Moellmann, Katja Krueger, Dickson W L Wong, Barbara M Klinkhammer, Eva M Buhl, Jonas Dehairs, Johan V Swinnen, Heidi Noels, Joachim Jankowski, Corinna Lebherz, Peter Boor, Nikolaus Marx, Michael Lehrke. 2,8-Dihydroxyadenine-induced nephropathy causes hexosylceramide accumulation with increased mTOR signaling, reduced levels of protective SirT3 expression and impaired renal mitochondrial function. Biochimica et biophysica acta. Molecular basis of disease. 2023 Aug; ?(?):166825. doi: 10.1016/j.bbadis.2023.166825. [PMID: 37536502]
  • Yamei Cheng, Luying Guo, Meifang Wang, Jianghua Chen, Rending Wang. Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review. Internal medicine (Tokyo, Japan). 2021 Aug; 60(16):2651-2657. doi: 10.2169/internalmedicine.6640-20. [PMID: 33678741]
  • Jyotsna Yesodharan, N V Seethalekshmy, Rajesh R Nair. Recurrent DHA nephropathy in renal allograft-revisiting clinicopathological aspects of a rare entity. Indian journal of pathology & microbiology. 2021 Jul; 64(3):504-508. doi: 10.4103/ijpm.ijpm_441_20. [PMID: 34341261]
  • Hrafnhildur L Runolfsdottir, Tzu-Ling Lin, David S Goldfarb, John A Sayer, Mini Michael, David Ketteridge, Peter R Rich, Vidar O Edvardsson, Runolfur Palsson. Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series. Urolithiasis. 2020 Aug; 48(4):337-344. doi: 10.1007/s00240-020-01187-6. [PMID: 32399606]
  • Barbara Mara Klinkhammer, Sonja Djudjaj, Uta Kunter, Runolfur Palsson, Vidar Orn Edvardsson, Thorsten Wiech, Margret Thorsteinsdottir, Sverrir Hardarson, Orestes Foresto-Neto, Shrikant R Mulay, Marcus Johannes Moeller, Wilhelm Jahnen-Dechent, Jürgen Floege, Hans-Joachim Anders, Peter Boor. Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy. Journal of the American Society of Nephrology : JASN. 2020 04; 31(4):799-816. doi: 10.1681/asn.2019080827. [PMID: 32086278]
  • Sahil Bagai, Dinesh Khullar, Bhavna Bansal. Rare crystalline nephropathy leading to acute graft dysfunction: a case report. BMC nephrology. 2019 11; 20(1):428. doi: 10.1186/s12882-019-1616-3. [PMID: 31752739]
  • Hrafnhildur L Runolfsdottir, Runolfur Palsson, Unnur A Thorsteinsdottir, Olafur S Indridason, Inger M Sch Agustsdottir, G Steinunn Oddsdottir, Margret Thorsteinsdottir, Vidar O Edvardsson. Urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency, carriers and healthy control subjects. Molecular genetics and metabolism. 2019 Sep; 128(1-2):144-150. doi: 10.1016/j.ymgme.2019.05.015. [PMID: 31378568]
  • Nike Kwai Cheung Lau, Selina Ka Wai Ng, Iris Hiu Shuen Chan, Kwan Shun Ng, Jeffrey Sung Shing Kwok. Urinary bladder stone due to adenine phosphoribosyltransferase deficiency: first genetically confirmed case in a Chinese patient. Pathology. 2019 Aug; 51(5):557-561. doi: 10.1016/j.pathol.2019.02.008. [PMID: 31201003]
  • Mital Dipakkkumar Parikh, Abhijit Konnur, Sishir Gang. Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia. 2019 May; 30(3):723-725. doi: 10.4103/1319-2442.261357. [PMID: 31249241]
  • G Garigali, G Marra, V Rizzo, F de Liso, A Berrettini, M Daudon, G B Fogazzi. A virtuous diagnostic and therapeutic roadmap triggered by a motivated and skilful urinary sediment examination. Clinica chimica acta; international journal of clinical chemistry. 2019 May; 492(?):23-25. doi: 10.1016/j.cca.2019.01.026. [PMID: 30707895]
  • Hrafnhildur Linnet Runolfsdottir, Runolfur Palsson, Inger MSch Agustsdottir, Olafur S Indridason, Vidar O Edvardsson. Long-term renal outcomes of APRT deficiency presenting in childhood. Pediatric nephrology (Berlin, Germany). 2019 03; 34(3):435-442. doi: 10.1007/s00467-018-4109-x. [PMID: 30443743]
  • M Carmen Jiménez Herrero, Vladimir Petkov Stoyanov, M José Gutiérrez Sánchez, Juan A Martín Navarro. Litiasis due to 2,8-dihydroxyadenine, usefulness of the genetic study. Nefrologia. 2019 Mar; 39(2):206-207. doi: 10.1016/j.nefro.2018.08.002. [PMID: 30389108]
  • Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F Garbade, Georg F Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Jürgen G Okun. Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PloS one. 2019; 14(2):e0212458. doi: 10.1371/journal.pone.0212458. [PMID: 30817767]
  • Amin Oomatia, Peter Dupont, Paul Bass, Shabir Moochhala. The Case Shining a light on an unusual case of chronic kidney disease. Kidney international. 2018 04; 93(4):1023-1024. doi: 10.1016/j.kint.2017.08.028. [PMID: 29571445]
  • Natarajan Gopalakrishnan, Dhanasekaran Rajasekar, Jeyachandran Dhanapriya, Thanigachalam Dineshkumar, Ramanathan Sakthirajan, T Balasubramaniyan, V Murugesan. Unusual cause of crystalline nephropathy. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia. 2018 Mar; 29(2):462-465. doi: 10.4103/1319-2442.229280. [PMID: 29657221]
  • Vidar O Edvardsson, Hrafnhildur L Runolfsdottir, Unnur A Thorsteinsdottir, Inger M Sch Agustsdottir, G Steinunn Oddsdottir, Finnur Eiriksson, David S Goldfarb, Margret Thorsteinsdottir, Runolfur Palsson. 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 02; 48(?):75-79. doi: 10.1016/j.ejim.2017.10.007. [PMID: 29241594]
  • Smiley Annie George, Sulaiman Al-Rushaidan, Issam Francis, Darius Soonowala, M R Narayanan Nampoory. 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 Oct; 15(5):574-577. doi: 10.6002/ect.2015.0096. [PMID: 27447713]
  • Koji Nanmoku, Akira Kurosawa, Takahiro Shinzato, Toshihiro Shimizu, Takaaki Kimura, Takashi Yagisawa. Febuxostat for the Prevention of Recurrent 2,8-dihydroxyadenine Nephropathy due to Adenine Phosphoribosyltransferase Deficiency Following Kidney Transplantation. Internal medicine (Tokyo, Japan). 2017; 56(11):1387-1391. doi: 10.2169/internalmedicine.56.8142. [PMID: 28566603]
  • Margret Thorsteinsdottir, Unnur A Thorsteinsdottir, Finnur F Eiriksson, Hrafnhildur L Runolfsdottir, Inger M Sch Agustsdottir, Steinunn Oddsdottir, Baldur B Sigurdsson, Hordur K Hardarson, Nilesh R Kamble, Snorri Th Sigurdsson, Vidar O Edvardsson, Runolfur Palsson. 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; 1036-1037(?):170-177. doi: 10.1016/j.jchromb.2016.09.018. [PMID: 27770717]
  • Kati Kaartinen, Ulla Hemmilä, Kaija Salmela, Anne Räisänen-Sokolowski, Timo Kouri, Satu Mäkelä. Adenine phosphoribosyltransferase deficiency as a rare cause of renal allograft dysfunction. Journal of the American Society of Nephrology : JASN. 2014 Apr; 25(4):671-4. doi: 10.1681/asn.2013090960. [PMID: 24459232]
  • Cristiene Okabe, Raquel Lerner Borges, Danilo Candido de Almeida, Camilla Fanelli, Grasiela Pedreira Barlette, Flavia Gomes Machado, Simone Costa Alarcon Arias, Denise Maria Avancini Costa Malheiros, Niels Olsen Saraiva Camara, Roberto Zatz, Clarice Kazue Fujihara. NF-κB activation mediates crystal translocation and interstitial inflammation in adenine overload nephropathy. American journal of physiology. Renal physiology. 2013 Jul; 305(2):F155-63. doi: 10.1152/ajprenal.00491.2012. [PMID: 23657853]
  • Doreen M Houston, Andrew E Moore, Sonia Z Mendonca, Judith A Taylor. 2,8-Dihydroxyadenine uroliths in a dog. Journal of the American Veterinary Medical Association. 2012 Nov; 241(10):1348-52. doi: 10.2460/javma.241.10.1348. [PMID: 23113528]
  • Shree G Sharma, Michael J Moritz, Glen S Markowitz. 2,8-dihydroxyadeninuria disease. Kidney international. 2012 Nov; 82(9):1036. doi: 10.1038/ki.2012.229. [PMID: 23064195]
  • Guillaume Bollée, Jérôme Harambat, Albert Bensman, Bertrand Knebelmann, Michel Daudon, Irène Ceballos-Picot. Adenine phosphoribosyltransferase deficiency. Clinical journal of the American Society of Nephrology : CJASN. 2012 Sep; 7(9):1521-7. doi: 10.2215/cjn.02320312. [PMID: 22700886]
  • Ying-Yong Zhao, Jing Liu, Xian-Long Cheng, Xu Bai, Rui-Chao Lin. Urinary metabonomics study on biochemical changes in an experimental model of chronic renal failure by adenine based on UPLC Q-TOF/MS. Clinica chimica acta; international journal of clinical chemistry. 2012 Mar; 413(5-6):642-9. doi: 10.1016/j.cca.2011.12.014. [PMID: 22227165]
  • Marcin Klapczynski, Gerard D Gagne, Sherry J Morgan, Kelly J Larson, Bruce E Leroy, Eric A Blomme, Bryan F Cox, Eugene W Shek. Computer-assisted imaging algorithms facilitate histomorphometric quantification of kidney damage in rodent renal failure models. Journal of pathology informatics. 2012; 3(?):20. doi: 10.4103/2153-3539.95456. [PMID: 22616032]
  • Hiroki Nozue, Tomohiro Kamoda, Hisako Saitoh, Kunio Ichikawa, Atsuo Taniguchi. 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 Dec; 100(12):e285-8. doi: 10.1111/j.1651-2227.2011.02371.x. [PMID: 21635362]
  • Matteo Arancio, Stefania Ranzoni, Alessandro Delsignore, Giuseppe Landi, Nicola Maffei, Maurizio Marcato, Alessandro Mina, Carlo Martinengo. [2,8-dihydroxyadenine urolithiasis: case report and literature review]. Urologia. 2011 Oct; 78(4):305-9. doi: 10.5301/ru.2011.8307. [PMID: 21553389]
  • Shotaro Nakanishi, Ryoichi Saito, Kei Mizuno, Takashi Matsuoka, Yuki Kita, Seiji Asai, Rikiya Taoka, Takeshi Soda, Koji Inoue, Akito Terai. [A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency]. Hinyokika kiyo. Acta urologica Japonica. 2011 Oct; 57(10):551-4. doi: NULL. [PMID: 22089152]
  • Andrew D Rule, Amy E Krambeck, John C Lieske. Chronic kidney disease in kidney stone formers. Clinical journal of the American Society of Nephrology : CJASN. 2011 Aug; 6(8):2069-75. doi: 10.2215/cjn.10651110. [PMID: 21784825]
  • Stephen Damment, Roger Secker, Victor Shen, Victor Lorenzo, Mariano Rodriguez. Long-term treatment with lanthanum carbonate reduces mineral and bone abnormalities in rats with chronic renal failure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2011 Jun; 26(6):1803-12. doi: 10.1093/ndt/gfq682. [PMID: 21098011]
  • Matheus Correa-Costa, Tarcio Teodoro Braga, Patricia Semedo, Caroline Yuri Hayashida, Luiz Roberto Grassmann Bechara, Rosa Maria Elias, Claudiene Rodrigues Barreto, Claudia Silva-Cunha, Meire Ioshie Hyane, Giselle Martins Gonçalves, Patricia Chakur Brum, Clarice Fujihara, Roberto Zatz, Alvaro Pacheco-Silva, Dario S Zamboni, Niels Olsen Saraiva Camara. Pivotal role of Toll-like receptors 2 and 4, its adaptor molecule MyD88, and inflammasome complex in experimental tubule-interstitial nephritis. PloS one. 2011; 6(12):e29004. doi: 10.1371/journal.pone.0029004. [PMID: 22194975]
  • Iddo Z Ben-Dov, Mony Shuvy. Acquired DHA nephropathy in rats. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2010 Oct; 25(10):3455-6; author reply 3456. doi: 10.1093/ndt/gfq390. [PMID: 20610528]
  • Piero Stratta, Giovanni Battista Fogazzi, Caterina Canavese, Andrea Airoldi, Roberta Fenoglio, Cristina Bozzola, Irène Ceballos-Picot, Guillaume Bollée, Michel Daudon. Decreased kidney function and crystal deposition in the tubules after kidney transplant. American journal of kidney diseases : the official journal of the National Kidney Foundation. 2010 Sep; 56(3):585-90. doi: 10.1053/j.ajkd.2009.12.028. [PMID: 20303634]
  • Samih H Nasr, Sanjeev Sethi, Lynn D Cornell, Dawn S Milliner, Mark Boelkins, John Broviac, Mary E Fidler. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 2010 Jun; 25(6):1909-15. doi: 10.1093/ndt/gfp711. [PMID: 20064951]
  • Jianmin Chen, Yanping Chen, Stephanie Capizzi, Min Yang, Li Deng, Sharon B Bledsoe, Andrew P Evan, Jay A Tischfield, Amrik Sahota. 2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney. Urology. 2010 Apr; 75(4):914-22. doi: 10.1016/j.urology.2009.10.031. [PMID: 20035974]
  • Pierre Cochat, Valérie Pichault, Justine Bacchetta, Laurence Dubourg, Jean-François Sabot, Christine Saban, Michel Daudon, Aurélia Liutkus. Nephrolithiasis related to inborn metabolic diseases. Pediatric nephrology (Berlin, Germany). 2010 Mar; 25(3):415-24. doi: 10.1007/s00467-008-1085-6. [PMID: 19156444]
  • Bernd Hoppe, Markus J Kemper. Diagnostic examination of the child with urolithiasis or nephrocalcinosis. Pediatric nephrology (Berlin, Germany). 2010 Mar; 25(3):403-13. doi: 10.1007/s00467-008-1073-x. [PMID: 19104842]
  • Uri S Alon. Medical treatment of pediatric urolithiasis. Pediatric nephrology (Berlin, Germany). 2009 Nov; 24(11):2129-35. doi: 10.1007/s00467-007-0740-7. [PMID: 18273648]
  • Mizuho Tamura, Reiko Aizawa, Masatoshi Hori, Hiroshi Ozaki. Progressive renal dysfunction and macrophage infiltration in interstitial fibrosis in an adenine-induced tubulointerstitial nephritis mouse model. Histochemistry and cell biology. 2009 Apr; 131(4):483-90. doi: 10.1007/s00418-009-0557-5. [PMID: 19159945]
  • Mony Shuvy, Suzan Abedat, Ronen Beeri, Haim D Danenberg, David Planer, Iddo Z Ben-Dov, Karen Meir, Jacob Sosna, Chaim Lotan. Uraemic hyperparathyroidism causes a reversible inflammatory process of aortic valve calcification in rats. Cardiovascular research. 2008 Aug; 79(3):492-9. doi: 10.1093/cvr/cvn088. [PMID: 18390899]
  • H Bouzidi, B Lacour, M Daudon. [2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy]. Annales de biologie clinique. 2007 Nov; 65(6):585-92. doi: . [PMID: 18039602]
  • Syed A H Rizvi, Sajid Sultan, Mirza N Zafar, Bashir Ahmed, Syed M Faiq, Kehkashan Z Hossain, Syed A A Naqvi. Evaluation of children with urolithiasis. Indian journal of urology : IJU : journal of the Urological Society of India. 2007 Oct; 23(4):420-7. doi: 10.4103/0970-1591.36717. [PMID: 19718299]
  • Li Liang, Jianmin Chen, Ragini Vittal, Zachariah E Selvanayagam, James A McAteer, Li Deng, Jay Tischfield, Khew-Voon Chin, Amrik Sahota. Expression profiling of crystal-induced injury in human kidney epithelial cells. Nephron. Physiology. 2006; 103(1):p53-62. doi: 10.1159/000090503. [PMID: 16374038]
  • Hilary J Vernon, Christine Osborne, Eleni G Tzortzaki, Min Yang, Jianmen Chen, Susan R Rittling, David T Denhardt, Steven Buyske, Sharon B Bledsoe, Andrew P Evan, Lynette Fairbanks, H Anne Simmonds, Jay A Tischfield, Amrik Sahota. Aprt/Opn double knockout mice: osteopontin is a modifier of kidney stone disease severity. Kidney international. 2005 Sep; 68(3):938-47. doi: 10.1111/j.1523-1755.2005.00487.x. [PMID: 16105024]
  • Margret Arnadottir, Thröstur Laxdal, Bergljot Halldorsdottir. 2,8-dihydroxyadeninuria: are there no cases in Scandinavia?. Scandinavian journal of urology and nephrology. 2005; 39(1):82-6. doi: 10.1080/00365590510007621. [PMID: 15764278]
  • Takashi Koguchi, Hiromi Koguchi, Hisao Nakajima, Saburo Takano, Yuji Yamamoto, Satoshi Innami, Akio Maekawa, Tadahiro Tadokoro. Dietary fiber suppresses elevation of uric acid and urea nitrogen concentrations in serum of rats with renal dysfunction induced by dietary adenine. International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition. 2004 Jul; 74(4):253-63. doi: 10.1024/0300-9831.74.4.253. [PMID: 15580807]
  • Marcio Silva, Carlos Henrique Tomich de Paula Silva, Jorge Iulek, Otavio Henrique Thiemann. Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. Biochemistry. 2004 Jun; 43(24):7663-71. doi: 10.1021/bi0360758. [PMID: 15196008]
  • P Eller, A R Rosenkranz, W Mark, I Theurl, J Laufer, K Lhotta. Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. Clinical nephrology. 2004 Mar; 61(3):217-21. doi: 10.5414/cnp61217. [PMID: 15077874]
  • Hazel Wilkinson, Colin Samuell, Michael Stower. 2,8-Dihydroxyadenine renal stones in a 41-year-old man. Annals of clinical biochemistry. 2004 Mar; 41(Pt 2):160-1. doi: 10.1258/000456304322880087. [PMID: 15025810]
  • M Hoffmann, A Talaszka, J P Bocquet, H Le Monies de Sagazan, M Daudon. [Acute renal failure and 2,8-dihydroxyadeninuria]. Nephrologie. 2004; 25(7):297-300. doi: NULL. [PMID: 15584640]
  • Eleni G Tzortzaki, Min Yang, Dayna Glass, Li Deng, Andrew P Evan, Sharon B Bledsoe, Peter J Stambrook, Amrik Sahota, Jay A Tischfield. Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease. Urological research. 2003 Aug; 31(4):257-61. doi: 10.1007/s00240-003-0318-1. [PMID: 12856169]
  • Masahiro Shiba, Kiyonori Shimizu, Hiroshi Takatera. [2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]. Hinyokika kiyo. Acta urologica Japonica. 2003 Aug; 49(8):497-9. doi: NULL. [PMID: 14518391]
  • W Hochreiter, Th Knoll, B Hess. [Pathophysiology, diagnosis and conservative therapy of non-calcium kidney calculi]. Therapeutische Umschau. Revue therapeutique. 2003 Feb; 60(2):89-97. doi: 10.1024/0040-5930.60.2.89. [PMID: 12649987]
  • Eleni G Tzortzaki, Dayna Glass, Min Yang, Andrew P Evan, Sharon B Bledsoe, Peter J Stambrook, Amrik Sahota, Jay A Tischfield. Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society. 2002 Dec; 50(12):1663-9. doi: 10.1177/002215540205001211. [PMID: 12486089]
  • Wolfgang Gröbner, Ingeborg Walter-Sack. [Hyperuricemia and gout--diagnosis]. Deutsche medizinische Wochenschrift (1946). 2002 Feb; 127(5):207-9. doi: 10.1055/s-2002-19897. [PMID: 11821993]
  • David Friedecký, Tomás Adam, Petr Barták. Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: a selective approach. Electrophoresis. 2002 Feb; 23(4):565-71. doi: 10.1002/1522-2683(200202)23:4<565::aid-elps565>3.0.co;2-s. [PMID: 11870766]
  • Li Wang, Nandita Raikwar, Min Yang, Li Deng, James A McAteer, Peter J Stambrook, Amrik Sahota, Jay A Tischfield. Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells. Experimental nephrology. 2002; 10(5-6):365-73. doi: 10.1159/000065301. [PMID: 12381921]
  • A P Evan, S B Bledsoe, B A Connors, L Deng, L Liang, C Shao, N S Fineberg, M D Grynpas, P J Stambrook, S Youzhi, A Sahota, J A Tischfield. Sequential analysis of kidney stone formation in the Aprt knockout mouse. Kidney international. 2001 Sep; 60(3):910-23. doi: 10.1046/j.1523-1755.2001.060003910.x. [PMID: 11532086]
  • V Edvardsson, R Palsson, I Olafsson, G Hjaltadottir, T Laxdal. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland. American journal of kidney diseases : the official journal of the National Kidney Foundation. 2001 Sep; 38(3):473-80. doi: 10.1053/ajkd.2001.26826. [PMID: 11532677]
  • T Wessel, C Lanvers, S Fruend, G Hempel. Determination of purines including 2,8-dihydroxyadenine in urine using capillary electrophoresis. Journal of chromatography. A. 2000 Oct; 894(1-2):157-64. doi: 10.1016/s0021-9673(00)00439-8. [PMID: 11100858]
  • L Wang, N Raikwar, L Deng, M Yang, L Liang, C Shao, A P Evan, P J Stambrook, A Sahota, J A Tischfield. Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis. Kidney international. 2000 Aug; 58(2):528-36. doi: 10.1046/j.1523-1755.2000.00199.x. [PMID: 10916076]
  • T Funato, Y Nishiyama, N Ioritani, R Matsuki, K Yoshida, M Kaku, T Sasaki, H Ideguchi, J Ono. Detection of mutations in adenine phosphoribosyltransferase (APRT) deficiency using the LightCycler system. Journal of clinical laboratory analysis. 2000; 14(6):274-9. doi: 10.1002/1098-2825(20001212)14:6<274::aid-jcla5>3.0.co;2-2. [PMID: 11138609]
  • T Yagisawa, Y Yamazaki, H Toma, N Kamatani. Radiopaque 2,8-dihydroxyadenine lithiasis. International urology and nephrology. 1999; 31(2):141-3. doi: 10.1023/a:1007108205253. [PMID: 10481956]
  • T Ohne, A Fujito, K Koga, Y Imaide, M Uchida. [2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. Hinyokika kiyo. Acta urologica Japonica. 1998 Oct; 44(10):725-8. doi: NULL. [PMID: 9850838]
  • H A Brown. Recurrence of 2,8-dihydroxyadenine tubulointerstitial lesions in a kidney transplant recipient with a primary presentation of chronic renal failure. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 1998 Apr; 13(4):998-1000. doi: 10.1093/ndt/13.4.998. [PMID: 9568867]
  • K Safranow. [Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. Postepy higieny i medycyny doswiadczalnej. 1998; 52(1):89-104. doi: NULL. [PMID: 9608233]
  • K Inagaki, A Muraoka, I Suehiro, M Fujii, H Ueno, T Hosooka, K Kida, K Murakami. Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis. Internal medicine (Tokyo, Japan). 1998 Jan; 37(1):69-72. doi: 10.2169/internalmedicine.37.69. [PMID: 9510404]
  • M Arnadottir, T Laxdal, S Hardarson, P Asmundsson. Acute renal failure in a middle-aged woman with 2,8-dihydroxyadeninuria. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 1997 Sep; 12(9):1985-7. doi: 10.1093/ndt/12.9.1985. [PMID: 9306356]
  • K Suzuki, S Kobayashi, K Kawamura, T Kuhara, R Tsugawa. Family study of 2,8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0). International journal of urology : official journal of the Japanese Urological Association. 1997 May; 4(3):304-6. doi: 10.1111/j.1442-2042.1997.tb00195.x. [PMID: 9255672]
  • N Kamatani. [Adenine phosphoribosyltransferase(APRT) deficiency]. Nihon rinsho. Japanese journal of clinical medicine. 1996 Dec; 54(12):3321-7. doi: . [PMID: 8976113]
  • D J de Jong, K J Assmann, R A De Abreu, L A Monnens, F J van Liebergen, H B Dijkman, F T Huysmans. 2,8-Dihydroxyadenine stone formation in a renal transplant recipient due to adenine phosphoribosyltransferase deficiency. The Journal of urology. 1996 Nov; 156(5):1754-5. doi: 10.1097/00005392-199611000-00057. [PMID: 8863589]
  • N J Redhead, J Selfridge, C L Wu, D W Melton. Mice with adenine phosphoribosyltransferase deficiency develop fatal 2,8-dihydroxyadenine lithiasis. Human gene therapy. 1996 Aug; 7(13):1491-502. doi: 10.1089/hum.1996.7.13-1491. [PMID: 8864750]
  • S J Engle, M G Stockelman, J Chen, G Boivin, M N Yum, P M Davies, M Y Ying, A Sahota, H A Simmonds, P J Stambrook, J A Tischfield. Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proceedings of the National Academy of Sciences of the United States of America. 1996 May; 93(11):5307-12. doi: 10.1073/pnas.93.11.5307. [PMID: 8643571]
  • L Estepa-Maurice, C Hennequin, C Marfisi, C Bader, B Lacour, M Daudon. Fourier transform infrared microscopy identification of crystal deposits in tissues: clinical importance in various pathologies. American journal of clinical pathology. 1996 May; 105(5):576-82. doi: 10.1093/ajcp/105.5.576. [PMID: 8623766]
  • J Sevcík, T Adam, H Mazácová. A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis. Clinica chimica acta; international journal of clinical chemistry. 1996 Feb; 245(1):85-92. doi: 10.1016/0009-8981(95)06175-4. [PMID: 8646818]
  • J Thomas, P Conort, D Fompeydie, J Bellin, J P Rechke, G Arvis. [A case of lithiasis caused by 2,8 dihydroxyadenine. Evolutive characteristics. Therapeutic problems]. Journal d'urologie. 1996; 102(4):161-7. doi: NULL. [PMID: 9091566]
  • C Terai, M Hakoda, H Yamanaka, N Kamatani, M Okai, F Takahashi, S Kashiwazaki. Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. Clinical genetics. 1995 Nov; 48(5):246-50. doi: 10.1111/j.1399-0004.1995.tb04098.x. [PMID: 8825602]
  • S Sumi, K Kidouchi, S Ohba, Y Wada. Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography. Journal of chromatography. B, Biomedical applications. 1995 Oct; 672(2):233-9. doi: 10.1016/0378-4347(95)00228-b. [PMID: 8581129]
  • N Konishi, K Takeshita, H Yasui. [A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. Nihon Jinzo Gakkai shi. 1994 Oct; 36(10):1191-5. doi: NULL. [PMID: 7815752]
  • E R Gagné, E Deland, M Daudon, L H Noël, T Nawar. Chronic renal failure secondary to 2,8-dihydroxyadenine deposition: the first report of recurrence in a kidney transplant. American journal of kidney diseases : the official journal of the National Kidney Foundation. 1994 Jul; 24(1):104-7. doi: 10.1016/s0272-6386(12)80168-5. [PMID: 8023815]
  • A Sahota, J Chen, S A Boyadjiev, M H Gault, J A Tischfield. Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Human molecular genetics. 1994 May; 3(5):817-8. doi: 10.1093/hmg/3.5.817. [PMID: 7915931]
  • P Winter, A Hesse, K Klocke, R M Schaefer. Scanning electron microscopy of 2,8-dihydroxyadenine crystals and stones. Scanning microscopy. 1993 Sep; 7(3):1075-80. doi: NULL. [PMID: 8146608]
  • K H Fye, A Sahota, D C Hancock, A B Gelb, J Chen, J W Sparks, R K Sibley, J A Tischfield. Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Archives of internal medicine. 1993 Mar; 153(6):767-70. doi: NULL. [PMID: 8447714]
  • A B Gelb, K H Fye, J A Tischfield, A S Sahota, J W Sparks, D C Hancock, R K Sibley. Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis. Human pathology. 1992 Sep; 23(9):1081-5. doi: 10.1016/0046-8177(92)90273-6. [PMID: 1516930]
  • T Laxdal. 2,8-Dihydroxyadenine crystalluria vs urolithiasis. Lancet (London, England). 1992 Jul; 340(8812):184. doi: 10.1016/0140-6736(92)93270-w. [PMID: 1352601]
  • K Nutahara, M Oshi, E Higashihara. [Urolithiasis in chronic renal failure with hemodialysis]. Nihon rinsho. Japanese journal of clinical medicine. 1992 Jan; 50 Suppl(?):855-60. doi: NULL. [PMID: 1578778]
  • O Osawa, T Ohara, Y Komatz. [Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica. 1991 Nov; 37(11):1535-8. doi: . [PMID: 1767776]
  • A Sahota, J Chen, M A Behzadian, R Ravindra, H Takeuchi, P J Stambrook, J A Tischfield. 2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus. American journal of human genetics. 1991 May; 48(5):983-9. doi: NULL. [PMID: 1673292]
  • P C McCaskey, W E Rigsby, D M Hinton, L Friedlander, V J Hurst. Accumulation of 2,8 dihydroxyadenine in bovine liver, kidneys, and lymph nodes. Veterinary pathology. 1991 Mar; 28(2):99-109. doi: 10.1177/030098589102800201. [PMID: 2063521]
  • K J Van Acker, H A Simmonds. Long-term evolution of type 1 adenine phosphoribosyltransferase (APRT) deficiency. Advances in experimental medicine and biology. 1991; 309B(?):91-4. doi: 10.1007/978-1-4615-7703-4_20. [PMID: 1781413]
  • T Ishidate, S Igarashi, N Kamatani. Pseudodominant transmission of an autosomal recessive disease, adenine phosphoribosyltransferase deficiency. The Journal of pediatrics. 1991 Jan; 118(1):90-1. doi: 10.1016/s0022-3476(05)81854-2. [PMID: 1986109]
  • D B Leusmann, G Schmidt. [Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases]. Zeitschrift fur Urologie und Nephrologie. 1990 Jul; 83(7):383-9. doi: NULL. [PMID: 2238880]
  • N Zöllner, U Gresser. Nephrolithiasis in twins with APRT-deficiency. Stones as a marker of an inborn error of metabolism. Bildgebung = Imaging. 1990; 57(3-4):64-6. doi: NULL. [PMID: 2091814]
  • K Kitami, Y Kinoshita, M Hosaka. [A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase]. Hinyokika kiyo. Acta urologica Japonica. 1990 Jan; 36(1):73-6. doi: NULL. [PMID: 2408267]
  • K Hönecke, M Butz. [2,8-dihydroxyadenine urinary calculus: the significance of exact physical calculus analysis]. Der Urologe. Ausg. A. 1989 Nov; 28(6):361-2. doi: NULL. [PMID: 2603281]
  • H A Simmonds, J S Cameron, T M Barratt, M J Dillon, S R Meadow, R S Trompeter. Purine enzyme defects as a cause of acute renal failure in childhood. Pediatric nephrology (Berlin, Germany). 1989 Oct; 3(4):433-7. doi: 10.1007/bf00850222. [PMID: 2642113]
  • A E Lamontagne. 2,8-Dihydroxyadenine urolithiasis: report of a case in a woman in the United States. The Journal of urology. 1989 Aug; 142(2 Pt 1):369-70. doi: 10.1016/s0022-5347(17)38762-1. [PMID: 2746754]
  • T Kojima, T Nishina, M Kitamura, N Kamatani, K Nishioka. Reversed-phase high-performance liquid-chromatography of 2,8-dihydroxyadenine in serum and urine with electrochemical detection. Clinica chimica acta; international journal of clinical chemistry. 1989 Apr; 181(1):109-13. doi: 10.1016/0009-8981(89)90323-9. [PMID: 2721002]