MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs
Yıl: 2018 Cilt: 27 Sayı: 3 Sayfa Aralığı: 327 - 330 Metin Dili: Türkçe DOI: 10.5262/tndt.2018.2971 İndeks Tarihi: 26-02-2020
MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs
Öz: Renal infarkt, renal arter tıkanıklığına bağlı gelişen ve renal parenkim hasarına sebep olan nadirbir durumdur. Etiyolojide en sık neden ateroembolik kardiyak hastalıklardır. Diğer nedenler isetravma, oto-immün hastalıklar ve hiperkoagülabilitedir. Homosistein, vaskülotoksik bir maddedirve Metilentetrahidrofolat Redüktaz (MTHFR) enzimindeki mutasyonlar hiperhomosisteinemi ilesonuçlanabilir. 35 yaşında bilateral renal infarkt tesbit edilen, etiyolojide MTHFR C677 mutasyonu vehomosistein yüksekliğini sorumlu tuttuğumuz olguyu nadir olması nedeniyle sunuyoruz.
Anahtar Kelime: Konular:
Bilateral Renal Infarction due to MTHFR C677T Mutation and Hyperhomocysteinemia
Öz: Renal infarction is a condition induced by renal artery occlusion and causes renal parenchymal damage. The most common cause of renal infarction is atheroembolic cardiac diseases. Other causes are trauma, autoimmune diseases and hypercoagulability. Homocysteine is a vasculotoxic substance, and mutations in the Methyltetrahyrofolate Reductase (MTHFR) enzyme may result in an increase in serum homocysteine levels. In this report, we present a 35-year-old case with bilateral renal infarction, for which we hold the MTHFR C677T mutation and hyperhomocysteinemia responsible, because of its rarity
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
- Paris B, Bobrie G, Rossignol P, Le Coz S, Chedid A, Plouin PF: Blood pressure and renal outcomes in patients with kidney infarction and hypertension. J Hypertens 2006;24:1649-1654
- Oh YK, Yang CW, Kim YL, Kang SW, Park CW, Kim YS, Lee EY, Han BG, Lee SH, Kim SH, Lee H, Lim CS: Clinical characteristics and outcomes of renal infarction. Am J Kidney Dis 2016;67:243- 250
- Bourgault M, Grimbert P, Verret C, Pourrat J, Herody M, Halimi JM, Karras A, Amoura Z, Jourde-Chiche N, Izzedine H, François H, Boffa JJ, Hummel A, Bernadet-Monrozies P, Fouque D, CanouïPoitrine F, Lang P, Daugas E, Audard V: Acute renal infarction: A case series. Clin J Am Soc Nephrol 2013;8:392-398
- Hazanov N, Somin M, Attali M, Beilinson N, Thaler M, Mouallem M, Maor Y, Zaks N, Malnick S: Acute renal embolism. Forty-four cases of renal infarction in patients with atrial fibrillation. Medicine (Baltimore) 2004;83:292-299
- Antopolsky M, Simanovsky N, Stalnikowicz R, Salameh S, Hiller N: Renal infarction in the ED: 10-year experience and review of the literature. Am J Emerg Med 2012;30:1055-1060
- Sunder-Plassmann G, Fodinger M: Genetic determinants of the homocysteine level. Kidney Int Suppl 2003;84:S141-144
- Christen WG, Ajani UA, Glynn RJ, Hennekens CH: Blood levels of homocysteine and increased risks of cardiovascular disease: Causal or casual? Arch Intern Med 2000;160:422-434
- Clarke R, Daly L, Robinson K, Naughten E, Cahalane S, Fowler B, Graham I: Hyperhomocysteinemia: An independent risk factor for vascular disease. N Engl J Med 1991;324:1149-1155
- Boushey CJ, Beresford SA, Omenn GS, Motulsky AG: A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA 1995;274:1049-1057
- Cleophas TJ, Hornstra N, van Hoogstraten B, van der Meulen J: Homocysteine, a risk factor for coronary artery disease or not? A meta-analysis. Am J Cardiol 2000;86:1005-1009, A8
- Fallon UB, Ben-Shlomo Y, Elwood P, Ubbink JB, Smith GD: Homocysteine and coronary heart disease in the Caerphilly cohort: A 10 year follow up. Heart 2001;85:153-158
- Knekt P, Reunanen A, Alfthan G, Heliövaara M, Rissanen H, Marniemi J, Aromaa A: Hyperhomocystinemia: A risk factor or a consequence of coronary heart disease? Arch Intern Med 2001;161:1589-1594
- Xu-Jie Z, Li-Jun L, Min C, Fu-De Z: Asynchronous bilateral renal infarction and thrombophilia with associated gene mutations in a 43-year-old man. Medicine (Baltimore) 2016; 95:e3258
- Fraile Gomez P, Garcia-Cosmes P, Corbacho L, Tabernero JM: A 48-year-old male with renal infarction and thrombophilia. Nefrologia (English Version) 2008;28:463-464
- Ibıs A, Tutal E, Siren S, Huddam B, Ozdemir FN: Renal artery thromboembolism in a patient with hyperhomocysteinemia, low cobalamin level, and a methylenetetrahydrofolate Reductase C677T Heterozygous mutation. Turk Neph Dial Transpl 2009;18:144-146
- Tsukui T, Nakamura T, Ishida T, Momomura S: Renal Infarction in a patient with hyperhomocysteinemia. Journal of General and Family Medicine 2016;17:328-331
- Vlachostergios PJ, Dufresne F: Acute renal infarction associated with homozygous methylenetetrahydrofolate reductase mutation C677T and IgA beta-2-glycoprotein antibodies. Blood Coagul Fibrinolysis 2015;26:583-585
- Bolderman R, Oyen R, Verrijcken A, Knockaert D, Vanderschueren S: Idiopathic renal infarction. Am J Med 2006;119:356.e9-12
- Korzets Z, Plotkin E, Bernheim J, Zissin R: The clinical spectrum of acute renal infarction. Isr Med Assoc J 2002;4:781-784
- Moll S, Varga EA: Homocysteine and MTHFR Mutations. Circulation 2015;132:e6-9
- Guttormsen AB, Ueland PM, Nesthus I, Nygard O, Schneede J, Vollset SE, Refsum H: Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study. J Clin Invest 1996;98:2174- 2183
- McCully KS: Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56:111- 128
- Harker LA, Ross R, Slichter SJ, Scott CR: Homocystineinduced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis. J Clin Invest 1976;58:731-741
- Harker LA, Slichter SJ, Scott CR, Ross R: Homocystinemia. Vascular injury and arterial thrombosis. N Engl J Med 1974;291:537-543
- Rolland PH, Friggi A, Barlatier A, Piquet P, Latrille V, Faye MM, Guillou J, Charpiot P, Bodard H, Ghiringhelli O: Hyperhomocysteinemiainduced vascular damage in the minipig. Captoprilhydrochlorothiazide combination prevents elastic alterations. Circulation 1995;91:1161-1174
- Tsai JC, Perrella MA, Yoshizumi M, Hsieh CM, Haber E, Schlegel R, Lee ME: Promotion of vascular smooth muscle cell growth by homocysteine: A link to atherosclerosis. Proc Natl Acad Sci U S A 1994;91:6369-6373
- Poddar R, Sivasubramanian N, DiBello PM, Robinson K, Jacobsen DW: Homocysteine induces expression and secretion of monocyte chemoattractant protein1 and interleukin8 in human aortic endothelial cells: Implications for vascular disease. Circulation 2001;103:2717-2723
- Nappo F, De Rosa N, Marfella R, De Lucia D, Ingrosso D, Perna AF, Farzati B, Giugliano D: Impairment of endothelial functions by acute hyperhomocysteinemia and reversal by antioxidant vitamins. JAMA 1999;281:2113-2118
- Mansoor MA, Bergmark C, Svardal AM, Lønning PE, Ueland PM: Redox status and protein binding of plasma homocysteine and other aminothiols in patients with earlyonset peripheral vascular disease. Homocysteine and peripheral vascular disease. Arterioscler Thromb Vasc Biol 1995;15:232-240
- Kang SS, Wong PW, Susmano A, Sora J, Norusis M, Ruggie N: Thermolabile methylenetetrahydrofolate reductase: An inherited risk factor for coronary artery disease. Am J Hum Genet 1991;48:536- 545
- Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH: Total homocysteine in plasma or serum: Methods and clinical applications. Clin Chem 1993;39:1764-1779
- Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP: A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113
- van der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ: A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-1051
- Weisberg I, Tran P, Christensen B, Sibani S, Rozen R: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 1998;64:169-172
- Hanson NQ, Aras O, Yang F, Tsai MY: C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: Incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease. Clin Chem 2001;47:661-666
- Cui S, Li W, Lv X, Wang P, Gao Y, Huang G: Folic acid supplementation delays atherosclerotic lesion development by modulating MCP1 and VEGF DNA methylation levels in vivo and in vitro. Int J Mol Sci 2017;18. pii: E990
- Lonn E, Yusuf S, Arnold MJ, Sheridan P, Pogue J, Micks M, McQueen MJ, Probstfield J, Fodor G, Held C, Genest J Jr: Homocysteine lowering with folic acid and B vitamins in vascular disease. N Engl J Med 2006;354:1567-1577
- Mohan V, Adam DJ, Kurian KM, Ruckley CV: Isolated external iliac aneurysm associated with hyperhomocysteinaemia. Eur J Vasc Endovasc Surg 1997;14:506-508
| APA | Duygu F, Senel M, ÖCAL F, KIZILDAĞ B, ERKEN E, Altunoren O, Gungor O (2018). MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. , 327 - 330. 10.5262/tndt.2018.2971 |
| Chicago | Duygu Fatma betül,Senel Mahmut Egemen,ÖCAL Fatih,KIZILDAĞ Betül,ERKEN ERTUĞRUL,Altunoren Orcun,Gungor Ozkan MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. (2018): 327 - 330. 10.5262/tndt.2018.2971 |
| MLA | Duygu Fatma betül,Senel Mahmut Egemen,ÖCAL Fatih,KIZILDAĞ Betül,ERKEN ERTUĞRUL,Altunoren Orcun,Gungor Ozkan MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. , 2018, ss.327 - 330. 10.5262/tndt.2018.2971 |
| AMA | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. . 2018; 327 - 330. 10.5262/tndt.2018.2971 |
| Vancouver | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. . 2018; 327 - 330. 10.5262/tndt.2018.2971 |
| IEEE | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O "MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs." , ss.327 - 330, 2018. 10.5262/tndt.2018.2971 |
| ISNAD | Duygu, Fatma betül vd. "MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs". (2018), 327-330. https://doi.org/10.5262/tndt.2018.2971 |
| APA | Duygu F, Senel M, ÖCAL F, KIZILDAĞ B, ERKEN E, Altunoren O, Gungor O (2018). MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi, 27(3), 327 - 330. 10.5262/tndt.2018.2971 |
| Chicago | Duygu Fatma betül,Senel Mahmut Egemen,ÖCAL Fatih,KIZILDAĞ Betül,ERKEN ERTUĞRUL,Altunoren Orcun,Gungor Ozkan MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi 27, no.3 (2018): 327 - 330. 10.5262/tndt.2018.2971 |
| MLA | Duygu Fatma betül,Senel Mahmut Egemen,ÖCAL Fatih,KIZILDAĞ Betül,ERKEN ERTUĞRUL,Altunoren Orcun,Gungor Ozkan MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi, vol.27, no.3, 2018, ss.327 - 330. 10.5262/tndt.2018.2971 |
| AMA | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi. 2018; 27(3): 327 - 330. 10.5262/tndt.2018.2971 |
| Vancouver | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs. Türk Nefroloji Diyaliz ve Transplantasyon Dergisi. 2018; 27(3): 327 - 330. 10.5262/tndt.2018.2971 |
| IEEE | Duygu F,Senel M,ÖCAL F,KIZILDAĞ B,ERKEN E,Altunoren O,Gungor O "MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs." Türk Nefroloji Diyaliz ve Transplantasyon Dergisi, 27, ss.327 - 330, 2018. 10.5262/tndt.2018.2971 |
| ISNAD | Duygu, Fatma betül vd. "MTHFR C677T Mutasyonu ve Hiperhomosisteinemi’ye Bağlı Bilateral Renal İnfarktüs". Türk Nefroloji Diyaliz ve Transplantasyon Dergisi 27/3 (2018), 327-330. https://doi.org/10.5262/tndt.2018.2971 |
