{"id":10469,"date":"2021-05-15T11:17:51","date_gmt":"2021-05-15T08:17:51","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=10469"},"modified":"2021-05-15T11:17:53","modified_gmt":"2021-05-15T08:17:53","slug":"endometriozis-ve-genetik-risk","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/endometriozis-ve-genetik-risk\/","title":{"rendered":"ENDOMETR\u0130OZ\u0130S VE GENET\u0130K R\u0130SK"},"content":{"rendered":"\n<p>Endometriozis, ke\u015ffedilmesi \u00fczerinden \u00e7ok zaman ge\u00e7mesine ra\u011fmen hala tam olarak anla\u015f\u0131lmam\u0131\u015f bir hastal\u0131kt\u0131r. Genel olarak endometriozis durumu<strong>, <\/strong>ektopik (rahim d\u0131\u015f\u0131ndaki organlara yerle\u015fen) endometrium dokusunun tespit edilmesiyle karakterize edilmektedir. Bu doku, yumurtal\u0131k veya Fallop t\u00fcpleri gibi organlar \u00fczerinde g\u00f6r\u00fclebilir (1) ve menstrual d\u00f6ng\u00fc ile bir yara dokusuna d\u00f6n\u00fc\u015ferek \u00e7e\u015fitli semptomlara neden olabilir. Endometriozis hastalar\u0131nda normalde menstrual kanama ile v\u00fccut d\u0131\u015f\u0131na at\u0131lmas\u0131 gereken doku at\u0131lamaz ve bu b\u00f6lgede enflamasyona, ac\u0131ya neden olur. Overlerdeki bu ektopik dokuda kalan kan, dokuya daha da g\u00f6m\u00fclerek \u2018\u00e7ikolata kisti\u2019 ad\u0131 verilen yap\u0131lar\u0131n olu\u015fmas\u0131na neden olabilir. Maalesef adet g\u00f6ren ki\u015filerde endometriozis te\u015fhisi konulmas\u0131 hala uzun bir zaman al\u0131rken hastalar bu s\u00fcre boyunca a\u011fr\u0131 ve infertilite sorunlar\u0131 ile kar\u015f\u0131 kar\u015f\u0131ya kalabilmektedir. Ancak endometriozis ile seyreden belirtilerin \u015fiddeti ve hastal\u0131\u011f\u0131n evresi aras\u0131nda do\u011frusal bir ili\u015fki olmad\u0131\u011f\u0131 d\u00fc\u015f\u00fcn\u00fclmektedir. Endometriozis hastal\u0131\u011f\u0131n\u0131n T\u00fcrkiye\u2019de yakla\u015f\u0131k 2 milyon kad\u0131n\u0131 etkiledi\u011fi tahmin edilmektedir (1). Hastal\u0131k riskinin genetik, hormonal, ba\u011f\u0131\u015f\u0131kl\u0131\u011fa ba\u011fl\u0131, \u00e7evresel bir\u00e7ok fakt\u00f6re ba\u011fl\u0131 oldu\u011fu yak\u0131n zamanda yap\u0131lan ara\u015ft\u0131rmalar taraf\u0131ndan ortaya konmu\u015ftur (2). Aile \u00e7al\u0131\u015fmalar\u0131 ile de kal\u0131t\u0131lan fakt\u00f6rlerin hastal\u0131k ba\u015flang\u0131c\u0131 ve ilerlemesi \u00fczerinde etkili oldu\u011funu g\u00f6sterilmi\u015ftir.&nbsp;<\/p>\n\n\n\n<p>Ara\u015ft\u0131rmamdaki ana kayna\u011f\u0131m olan Deiana ve arkada\u015flar\u0131 taraf\u0131ndan 2019 y\u0131l\u0131nda yaz\u0131lm\u0131\u015f makaleden yola \u00e7\u0131karak (kaynak\u00e7amda 2 numaral\u0131 kaynak olarak bulabilirsiniz), bu yaz\u0131mda endometriozis geli\u015fiminde genetik fakt\u00f6rlerin rol oynad\u0131\u011f\u0131 d\u00fc\u015f\u00fcn\u00fclen mekanizmalardan bahsedece\u011fim. Endometriozis geli\u015fiminde belirleyici rol oynayan genetik fakt\u00f6rlerin tespit edilebilmesi ve bu bilgilerin \u00fczerine tedavilerin olu\u015fturulabilmesi i\u00e7in hala farkl\u0131 modellerle y\u00fcr\u00fct\u00fclen ara\u015ft\u0131rmalara ihtiya\u00e7 duyulmaktad\u0131r. Yine de hastal\u0131k mekanizmalar\u0131ndan yola \u00e7\u0131karak olas\u0131 kal\u0131tsal etmenler hakk\u0131nda yorum yap\u0131labilir.<\/p>\n\n\n\n<figure class=\"wp-block-image\"><img src=\"https:\/\/healthcare.utah.edu\/healthfeed\/postings\/2019\/04\/endometriosis.png\" alt=\"Do You Have Endometriosis? | University of Utah Health\" \/><figcaption>https:\/\/healthcare.utah.edu\/healthfeed\/postings\/2019\/04\/endometriosis.php<\/figcaption><\/figure>\n\n\n\n<p>\u015eimdiye kadar farkl\u0131 b\u00f6lgelerde y\u00fcr\u00fct\u00fclen ve genel olarak endometrioziste aile riskini ortaya koymay\u0131 ama\u00e7layan ve birka\u00e7 ara\u015ft\u0131rma yap\u0131lm\u0131\u015ft\u0131r. \u00d6rne\u011fin 1993\u2019te yay\u0131mlanan bir \u00e7al\u0131\u015fmaya g\u00f6re (3), endometriozis ile m\u00fccadele eden bir ki\u015finin birincil dereceden akrabalar\u0131nda (anne veya k\u0131z karde\u015f) bu hastal\u0131\u011f\u0131 geli\u015ftirme riski yakla\u015f\u0131k 7 kat\u0131na \u00e7\u0131kabilmektedir. Endometrioziste \u00f6nemli kal\u0131tsal etmenlerin rol oynad\u0131\u011f\u0131na dair benzer bulgular, ba\u015fka bir\u00e7ok ara\u015ft\u0131rmayla da ortaya konmu\u015f ve kal\u0131tsal olarak bu hastal\u0131\u011fa dair riski art\u0131ran belli fakt\u00f6rlerin bulundu\u011fu hipotezi desteklenmi\u015ftir.<\/p>\n\n\n\n<p>Endometriozis riskini etkileyen ki\u015fisel fakt\u00f6rler aras\u0131nda erken ya\u015fta adet g\u00f6rmeye ba\u015flamak, ge\u00e7 menapoza girmek ve ki\u015finin hayat\u0131 boyunca \u00f6strojene maruz kalma s\u00fcresini genel olarak art\u0131ran durumlar say\u0131labilir. Dolay\u0131s\u0131yla endometriozis nedenleri \u00fczerine yap\u0131lan \u00f6nemli hipotezlerden biri de \u00f6strojen ve progesteron resept\u00f6r-ligand ili\u015fkisi ile bunun dengesinin bozulmas\u0131 \u00fczerine kuruludur (2). \u00d6strojen resept\u00f6rlerini kodlayan genler ve genlerin kal\u0131t\u0131m\u0131n\u0131n incelendi\u011fi baz\u0131 ara\u015ft\u0131rmalar y\u00fcr\u00fct\u00fclm\u00fc\u015f ve polimorfizmlerin endometriozis riskine etkisi \u00e7al\u0131\u015f\u0131lm\u0131\u015ft\u0131r.&nbsp;<\/p>\n\n\n\n<p>Enflamasyon tepkilerinin de endometriozis s\u0131ras\u0131nda \u00f6nemli bir rol oynad\u0131\u011f\u0131 g\u00f6r\u00fclmektedir. Dolay\u0131s\u0131yla ara\u015ft\u0131rmalar\u0131n sonu\u00e7lar\u0131 farkl\u0131 olabilse de hastal\u0131\u011f\u0131n genetik temelleri ortaya \u00e7\u0131kar\u0131lmak istendi\u011finde bu s\u00fcre\u00e7te etkili olan proteinler ve bunlar\u0131n genetik kodlar\u0131 ara\u015ft\u0131r\u0131lmaya ba\u015flanm\u0131\u015ft\u0131r. Baz\u0131 ara\u015ft\u0131rmalar \u00f6rne\u011fin IL2 resept\u00f6r\u00fc, IL10, TGF-beta gibi \u00f6nemli fakt\u00f6rlerin geneti\u011fi ile endometriozis aras\u0131nda ili\u015fkilere odaklanm\u0131\u015ft\u0131r (2). Endometriozisin ilgin\u00e7 taraflar\u0131ndan biri de bu konuyla ba\u011flant\u0131l\u0131 olarak ba\u011f\u0131\u015f\u0131kl\u0131k sistemi \u00f6zelinde belli de\u011fi\u015fikliklerle kendini g\u00f6stermesidir. Endometriozis h\u00fccreleri ba\u011f\u0131\u015f\u0131kl\u0131k sisteminin takibinden \u2018ka\u00e7may\u0131\u2019 ba\u015farabilmekte ve bu \u015fekilde ektopik noktalara eri\u015febilmektedir (2). B\u00f6yle bir g\u00fcce ula\u015fabilmelerinin nedeni HLA (insan l\u00f6kosit antijeni) ekspresyonunda de\u011fi\u015fiklikler ve yabanc\u0131 h\u00fccrelerin anla\u015f\u0131labilmesini engelleyen molek\u00fcllerin ortama salg\u0131lanmas\u0131 gibi mekanizmalar olabilir (4).&nbsp;<\/p>\n\n\n\n<p>Genom \u00e7ap\u0131nda ili\u015fkilendirme \u00e7al\u0131\u015fmalar\u0131 ile y\u00fcr\u00fct\u00fclen birka\u00e7 ara\u015ft\u0131rma da endometriozisin alt\u0131nda yatan nedenleri ve biyolojik mekanizmalar\u0131 anlamaya yo\u011funla\u015fm\u0131\u015ft\u0131r. \u015eimdiye kadar bu tarz k\u0131smen b\u00fcy\u00fck \u00e7apl\u0131 birka\u00e7 \u00f6nemli ara\u015ft\u0131rmadan s\u00f6z edilebilir. Kaynak\u00e7amdaki 5 ve 6 numaral\u0131 makalelerde ara\u015ft\u0131rmac\u0131lar<strong>, <\/strong>endometriozisi daha detayl\u0131 anlamak i\u00e7in y\u00fcr\u00fct\u00fclm\u00fc\u015f bu tip \u00e7al\u0131\u015fmalardan bahsetmi\u015ftir. Detayl\u0131 \u00f6\u011frenmek isterseniz bu makaleye g\u00f6z atman\u0131z\u0131 \u00f6neriyorum.&nbsp;<\/p>\n\n\n\n<p>An itibariyle te\u015fhis konulan endometriozis vakalar\u0131nda kal\u0131tsal fakt\u00f6rlerin \u00e7ok k\u00fc\u00e7\u00fck bir k\u0131sm\u0131 bu tarz genetik varyantlar ile a\u00e7\u0131klanabilmektedir. Dolay\u0131s\u0131yla genetik fakt\u00f6rlerin hastal\u0131k s\u00fcrecini tam olarak nas\u0131l etkiledi\u011fine dair bulgulara ihtiya\u00e7 vard\u0131r. Yine de bu ara\u015ft\u0131rmalar\u0131n endometriozise giden biyolojik yolaklar\u0131n anla\u015f\u0131labilmesi i\u00e7in \u00f6nemli ba\u015flang\u0131\u00e7 noktalar\u0131 olduklar\u0131 d\u00fc\u015f\u00fcn\u00fclmektedir (5).&nbsp;<\/p>\n\n\n\n<p><strong>Kaynak\u00e7a<\/strong><\/p>\n\n\n\n<ol><li>Ac\u0131badem Hastanesi. Endometriozis Tedavisi. <a href=\"https:\/\/www.acibadem.com.tr\/acibadem-de\/endometriozis-tedavisi\/\">https:\/\/www.acibadem.com.tr\/acibadem-de\/endometriozis-tedavisi\/<\/a><\/li><li>Deiana, D. (2019). Genetics of endometriosis: a comprehensive review, Gynecological Endocrinology, 35:7, 553-558, DOI: <a href=\"https:\/\/doi.org\/10.1080\/09513590.2019.1588244\">10.1080\/09513590.2019.1588244<\/a><\/li><li>Moen, M. H., &amp; Magnus, P. (1993). The familial risk of endometriosis. <em>Acta obstetricia et gynecologica Scandinavica<\/em>, <em>72<\/em>(7), 560\u2013564. <a href=\"https:\/\/doi.org\/10.3109\/00016349309058164\">https:\/\/doi.org\/10.3109\/00016349309058164<\/a>&nbsp;<\/li><li>Somigliana, E., Vigan\u00f2, P., Vignali, M. Endometriosis and unexplained recurrent spontaneous abortion: pathological states resulting from aberrant modulation of natural killer cell function?. <em>Human Reproduction Update<\/em>, Volume 5, Issue 1, January 1999, Pages 40\u201351. <a href=\"https:\/\/doi.org\/10.1093\/humupd\/5.1.40\">https:\/\/doi.org\/10.1093\/humupd\/5.1.40<\/a><\/li><li>Rahmioglu, N., Montgomery, G., Zondervan, K. (2015). Genetics of endometriosis. <em>Womens Health, <\/em>11(5), 577\u2013586.&nbsp;<\/li><li>Krishnamoorthy, K. &amp; Decherney, A. (2017). Genetics of endometriosis. <em>Clinical Obstetrics and Gynecology, <\/em>60 (3), 531-38.<\/li><\/ol>\n","protected":false},"excerpt":{"rendered":"<p>Endometriozis, ke\u015ffedilmesi \u00fczerinden \u00e7ok zaman ge\u00e7mesine ra\u011fmen hala tam olarak anla\u015f\u0131lmam\u0131\u015f bir hastal\u0131kt\u0131r. Genel olarak endometriozis durumu, ektopik (rahim d\u0131\u015f\u0131ndaki<\/p>\n","protected":false},"author":273,"featured_media":10473,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[],"acf":[],"views":833,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10469"}],"collection":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/users\/273"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=10469"}],"version-history":[{"count":2,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10469\/revisions"}],"predecessor-version":[{"id":10474,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/10469\/revisions\/10474"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/10473"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=10469"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=10469"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=10469"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}