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Læknablaðið - 15.11.1997, Qupperneq 29

Læknablaðið - 15.11.1997, Qupperneq 29
LÆKNABLAÐIÐ 1997; 83 741 hafa tHcy-hækkun vegna fólínsýruskorts eða erfðagalla. Bláæðahlið hómósysteinrannsókna hefur orðið út undan. Samkvæmt forsendum þessara rannsókna og fyrirliggjandi niðurstöðum er þó engin ástæða til að ætla annað en hómósystein stuðli að blóðsegamyndun jafnt í bláæðum og slagæðum. Fleiri bláæðarannsókna er þörf, einkum meðferðarrannsókna á sjúklingum sem fengið hafa endurtekna bláæðasega. Ekki er enn grundvöllur fyrir almennum leiðbeiningum varðandi mælingar á tHcy og túlkun gilda. Það fer þó varla hjá því að menn velti fyrir sér hvort ekki megi nýta tiltæka þekkingu í klínískri starfsemi. Varla er umdeil- anlegt að mæla með nægilegri fólínsýruneyslu sem telst vera 0,4 mg á dag (135). Höfundur hefur vanist því að tHcy ungra sjúklinga sé ntæld í þeim tilfellum þegar ekki er hægt að skýra fylgikvilla æðakölkunar út frá öðrum áhættuþáttum og að gildi ofan efri viðmiðunar- marka séu meðhöndluð með lágum skammti af fólínsýru. Þegar þetta er ritað er tHcy hvergi mæld á íslandi. í stuttu máli bendir flest til að tHcy sé bæði áhættuþáttur og orsakavaldur æðakölkunar en ekki er enn vitað hvort tHcy-lækkandi meðferð dregur úr þróun æðabreytinga. HEIMILDIR 3. Ueland PM, Refsum H, Brattström L. Plasma homo- cysteine and cardiovascular disease. In: Francis RB Jr, ed. Atheroscleroticcardiovascular disease, hemostasis, and endothelial function. New York: Marcel Dekker Inc., 1992: 183-236. 7. McCully KS, Wilson RB. Homocystinuria theory of arteriosclerosis. Atherosclerosis 1975; 22: 215-27. 8. McCully KS. Homocysteine theory of arteriosclerosis: development and current status. Atherosclerosis Rev 1983; 11: 157-246. 10. Andersson A, Isaksson A, Brattström L, Hultberg B. Homocysteine and other thiols determined in plasma by HPLC and thiolspecific postcolumn derivatization. Clin Chem 1993; 39: 1590-7. 13. Finkelstein JD. Methionine metabolism in mammals. J Nutr Biochem 1990; 1: 228-37. 17. Joosten E, van den Berg A, Riezler R, Naurath HJ, Lindenbaum J, Stabler SP, et al. Metabolic evidence that deficiencies of vitamin B12 (cobalamin), folate and vitamin B6 occur commonly in elderly people. Am J Clin Nutr 1993; 58: 468-76. 19. Mudd SH, Levy HL, Skovby F. Disorders of trans- sulfuration. In: Scriver CR, Beadet AL, Sly WS, Valle D, eds. The metabolic basis for inherited diseases. New York: McGraw-Hill, 1989: 693-734. 21. McGill JJ, Mettler G, Rosenblatt DS, Scriver CR. Detection of heterozygotes for recessive alleles. Ho- mocyst(e)inemia: paradigm of pitfalls in phenotypes. Am J Med Genet 1990; 36: 45-52. 22. Goyette P, Sumner JS, Milos R, Duncan AM, Ro- senblatt DS, Matthews RG, et al. Human methylene- tetrahydrofolate reductase: isolation of cDNA, map- ping and mutation identification. Nature Genet 1994; 7: 195-200. 23. Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: a thermolabile var- iant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988; 43: 414-21. 25. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylene- tetrahydrofolate reductase (letter). Nature Genet 1995; 10: 111-3. 26. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylenetetra- hydrofolate reductase, and plasma homocysteine con- centrations. Circulation 1996; 93: 7-9. 30. Ueland PM, Refsum H. Plasma homocysteine, a risk factor for vascular disease: plasma levels in health, disease, and drug therapy. J Lab Clin Med 1989; 114: 473-501. 31. Arnadottir M, Hultberg B, Nilsson-Ehle P, Thysell H. The effect of reduced glomerular filtration rate on plas- ma total homocysteine concentration. Scand J Clin Lab Invest 1996; 56: 41-6. 36. Dennis VW, Robinson K. Homocysteinemia and vas- cular disease in end-stage renal disease. Kidney Int 1996; 50/Suppl. 57: Sll-7. 40. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilck- en B, Pyeritz RE, et al. The natural history of homocys- tinuria due to cystathionine-P-synthase deficiency. Am J Hum Genet 1985; 37: 1-31. 45. Israelsson B, Brattström LE, Hultberg BJ. Homocys- teine and myocardial infarction. Atherosclerosis 1988; 71: 227-34. 46. Malinow MR, Kang SS, Taylor LM, Wong PW, Coull B, Inaharat T, et al. Prevalence of hyperhomocyst(e) inemia in patients with peripheral arterial occlusive disease. Circulation 1989; 79: 1180-8. 52. Genest JJ, McNamara JR, Salem DN, Wilson PWF, Schaefer EJ, Malinow MR. Plasma homocyst(e)ine levels in men with premature coronary artery disease. J Am Coll Cardiol 1990; 16: 1114-9. 54. Brattström L, Lindgren A, Israelsson B, Malinow MR, Norrving B, Upson B. Hyperhomocysteinemia in stroke: prevalence, cause and relationship to otherrisk factors or type of stroke. Eur J Clin Invest 1992; 22: 214-21. 57. Ubbink JB, Vermaak WJH, Bennett JM, Becker PJ, van Staden DA, Bissbort S. The prevalence of homo- cysteinemia and hypercholesterolemia in angiograph- ically defined coronary heart disease. Klin Wochenschr 1991; 69: 527-34. 58. Stampfer MJ, Malinow MR, Willett WC, Newcomer LM, Upson B, Ullman D, et al. A prospective study of plasma homocyst(e)ine and risk of myocardial infarc- tion in US physicians. JAMA 1992; 268: 877-81. 59. Verhoef P, Hennekens CH, Malinow R, Kok FJ, Wil- lett WC, Stampfer MJ. A prospective study of plasma homocyst(e)ine and risk of ischemic stroke. Stroke 1994; 25: 1924-30. 60. Perry IJ, Refsum H, Morris RW, Ebrahim SB, Ueland PM, Shaper AG. Prospective study of serum homocys- teine concentrations and risk of stroke in middle-aged British men. Lancet 1995; 346: 1395-8. 64. Alfthan G, Pekkanen J, Jauhiainen M, Pitkaniemi J, Karvonen M, Tuomolehto J, et al. Relation of serum homocysteine and lipoprotein(a) concentrations to ath-
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