2,8-dihydroxyadenine

2,8-ジヒドロキシアデニン

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/03/21 06:42:15」(JST)

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2,8-Dihydroxyadenine

Names
IUPAC name 6-Amino-7,9-dihydro-1H-purine-2,8-dione
Identifiers
CAS Number	30377-37-8 N
ChemSpider	83302 Y
Jmol interactive 3D	Image
MeSH	2,8-dihydroxyadenine
PubChem	92268
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) Y Key: XFBOJHLYDJZYSP-UHFFFAOYSA-N Y InChI=1/C5H5N5O2/c6-2-1-3(9-4(11)7-1)10-5(12)8-2/h(H5,6,7,8,9,10,11,12) Key: XFBOJHLYDJZYSP-UHFFFAOYAF
SMILES O=C2N/C/1=N/C(=O)N\C(=C\1N2)N
Properties
Chemical formula	C5H5N5O2
Molar mass	167.126
Except where otherwise noted, data are given for materials in their standard state (at 25 °C [77 °F], 100 kPa).
N verify (what is YN ?)
Infobox references

2,8-Dihydroxyadenine is a derivative of adenine which accumulates in 2,8 dihydroxy-adenine urolithiasis.

References

• Diculescu, VC; Piedade, JA; Oliveira-Brett, AM (2007). "Electrochemical behaviour of 2,8-dihydroxyadenine at a glassy carbon electrode". Bioelectrochemistry 70 (1): 141–6. doi:10.1016/j.bioelechem.2006.03.015. PMID 16713382. 
• Taniguchi A, Tsuchida S, Kuno S, Mita M, Machida T, Ioritani N, Terai C, Yamanaka H, Kamatani N (2004). "Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis". Nucleosides Nucleotides Nucleic Acids 23 (8–9): 1141–5. doi:10.1081/NCN-200027393. PMID 15571218. 
• Wilkinson H, Samuell C, Stower M (2004). "2,8-Dihydroxyadenine renal stones in a 41-year-old man". Ann Clin Biochem 41 (Pt 2): 160–1. doi:10.1258/000456304322880087. PMID 15025810. 

UpToDate Contents

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English Journal

• A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

• Nozue H, Kamoda T, Saitoh H, Ichikawa K, Taniguchi A.SourceDepartment of Pediatrics, Tsukuba Medical Center Hospital, Tsukuba, Ibaraki, 305-8558, Japan Department of Pediatrics, University of Tsukuba, Tsukuba, Ibaraki, 305-8575, Japan Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, 162-0054, Japan.
• Acta paediatrica (Oslo, Norway : 1992).2011 Jun 2. doi: 10.1111/j.1651-2227.2011.02371.x. [Epub ahead of print]
• We describe a 2-year-old Japanese boy with radiolucent urolithiasis and recurrent urinary tract infection. Urinalysis showed typical 2,8-dihydroxyadenine (2,8-DHA) crystals, leading to a diagnosis as adenine phosphoribosyltransferase (APRT) deficiency. The sensitivity of proliferating T cells to an
• PMID 21635362

• [2,8-dihydroxyadenine urolithiasis. Case report and literature review.]

• Arancio M, Ranzoni S, Delsignore A, Landi G, Maffei N, Marcato M, Mina A, Martinengo C.SourceASL "NO". S.C. Urologia. Presidi Ospedalieri di Borgomanero ed Arona, Novara - Italy.
• Urologia.2011 May 2. pii: 65969284-B77F-441A-BC7B-598D55B6676B. doi: 10.5301/RU.2011.8307. [Epub ahead of print]
• Introduction. 2,8-Dihydroxyadenine (DHA) urolithiasis is a rare type of urinary stone disease secondary to deficiency of adenine phosphoribosyltransferase (APRT) activity, a rare, inherited autosomal recessive disease with an incidental rate from 0.4 to 1.2%. The prevalence is higher among Japanese
• PMID 21553389

Japanese Journal

• APRT部分欠損症に合併した1歳女児両側腎結石症の治療経験

• 仲西 昌太郎,齊藤 亮一,水野 桂 [他]
• 泌尿器科紀要 57(10), 551-554, 2011-10
• … In the urine, there were 2, 8-dihydroxyadenine (DHA) crystals. … The analysis of the stone fragments revealed 2,8- dihydroxyadenine (DHA) urolithiasis. …
• NAID 40019038778

• 本邦初のAPRT*Q0(M1V)変異によるAPRT欠損症の1例

• 池田 裕一,渡辺 常樹,藤本 陽子 [他]
• 泌尿器科紀要 57(1), 15-19, 2011-01
• … Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. … The analysis of stones collected after spontaneous passage revealed 2, 8-dihydroxyadenine (DHA) urolithiasis. …
• NAID 120002770965

• Adenine phosphoribosyltransferase欠損症による小児2,8-dihydroxyadenine結石の1例

• 高尾 智也,河崎 正裕
• 日本小児外科学会雑誌 46(5), 880-883, 2010-08-20
• … 症例は1歳11か月の女児で尿路感染を主訴に紹介された.腹部CTで,放射線透過性の尿路結石嵌頓による両側水腎症を認め緊急腎瘻造設術と経尿道的尿管結石破砕術を行った.結石は2,8-dihydroxyadenineと分析された.またPCR法による遺伝子検査でadenine phosphoribosyltransferase欠損症と診断された.両側水腎症はESWLで改善したが,結石は残存している.現在,少量アロプリノール内服で経過観察中であ …
• NAID 110007682260

Related Links

• 2,8-Dihydroxyadenine | CAS 30377-37-8 | サンタクルーズ ...

Buy 2,8-Dihydroxyadenine (CAS 30377-37-8), a biochemical for proteomics research, from Santa Cruz. Molecular Formula: C5H5N5O2, MW: 167.13 ... 試験・研究用以外には使用しないでください。 臨床及び体外診断には使用 ...

• Title 2,8-Dihydroxyadenine urolithiasis due to partial deficit in ...

Title 2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report Author(s) Katsuoka, Yoji; Miyakita, Hideshi; Shiramizu, Miki; Iwagaki, Hiroyuki; Ikeda, Tomiko Citation 泌尿器科紀要 ...

• CiNii 論文 - 2.8-dihydroxyadenine(DHA)結石症の1例 : 第275 ...

2.8-dihydroxyadenine(DHA)結石症の1例 : 第275回新潟地方会 筒井 寿基 三条総合 平岩 三雄 三条総合 この論文にアクセスする CiNii 論文PDF 有料 この論文をさがす 医中誌Web CiNii Books 収録刊行物 日本泌尿器科學會雜誌 [巻号 ...

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リンク元	「2,8-ジヒドロキシアデニン結石症」「2,8-ジヒドロキシアデニン」
拡張検索	「2,8-dihydroxyadeninelithiasis」

「2,8-ジヒドロキシアデニン結石症」

　　[★]

英

2,8-dihydroxyadenine lithiasis

関

結石症

病因

• アデニンホスホリボシルトランスフェラーゼ欠損症

アデニン　→　2,8-ジヒドロキシアデニン 2,8-dihydroxyadenine 2,8-DHA

尿中に難溶性の2,8-DHAの結晶が・結石が形成される

疫学

• 全結石症の0.1-0.2%

治療

• 食事療法
• アロプリノール

「2,8-ジヒドロキシアデニン」

　　[★]

英

2,8-dihydroxyadenine

関

[[]]

臨床関連

• 2,8-ジヒドロキシアデニン結石症

参考

• 2,8-Dihydroxyadenine

「2,8-dihydroxyadeninelithiasis」

　　[★] 2,8- ジヒドロキシアデニン結石症