{"id":12528,"date":"2022-09-16T01:21:57","date_gmt":"2022-09-15T22:21:57","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=12528"},"modified":"2022-09-17T19:20:08","modified_gmt":"2022-09-17T16:20:08","slug":"sma-hastaligi","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/sma-hastaligi\/","title":{"rendered":"SMA HASTALI\u011eI"},"content":{"rendered":"\n
\n\"Life<\/a>\n<\/div>
https:\/\/flic.kr\/p\/2k5BNnB<\/figcaption><\/figure>\n\n\n\n

SMA HASTALI\u011eI NED\u0130R?<\/h2>\n\n\n\n

Spinal musk\u00fcler atrofi ya da k\u0131saca SMA son d\u00f6nemlerde bir\u00e7o\u011fumuzun s\u0131k s\u0131k duymaya ba\u015flad\u0131\u011f\u0131 bir hastal\u0131k. SMA kaslar\u0131 zay\u0131flatan, hareket ve solunum ile ilgili problemlere neden olan genetik bir hastal\u0131kt\u0131r. Hastal\u0131k ya\u015fam\u0131n erken d\u00f6neminde semptomlar\u0131n\u0131 ciddi \u015fekilde g\u00f6stermeye ba\u015flar ve h\u0131zla k\u00f6t\u00fcye giden bir seyri vard\u0131r. SMA hastal\u0131\u011f\u0131nda omurilikteki motor n\u00f6ronlarda kay\u0131p s\u00f6z konusudur. SMA hastal\u0131\u011f\u0131 ilk olarak 1890’l\u0131 y\u0131llarda iki bilim insan\u0131 Johann Hoffman ve Guido Werdnig taraf\u0131ndan bulunmu\u015ftur. SMA Tip 1 hastal\u0131\u011f\u0131n\u0131n Werdnig Hoffman hastal\u0131\u011f\u0131 olarak an\u0131lmas\u0131n\u0131n nedeni de budur.1995 y\u0131l\u0131nda ise hastal\u0131\u011fa neden olan gen bulunmu\u015f ve Survival Motor Neuron (SMN) yani hayati \u00f6nem ta\u015f\u0131yan gen olarak tabir edilmi\u015ftir. Dr. Judith Melki ve ekibi taraf\u0131ndan bulunan bu gen hastal\u0131\u011f\u0131n seyrini de\u011fi\u015ftirmi\u015ftir. Bu tarihten itibaren ila\u00e7 ara\u015ft\u0131rmalar\u0131 ba\u015flam\u0131\u015f ve ge\u00e7en 30 y\u0131l zarf\u0131nda bir\u00e7ok yeni \u00e7al\u0131\u015fman\u0131n \u00f6n\u00fc a\u00e7\u0131lm\u0131\u015ft\u0131r.<\/p>\n\n\n

\n
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https:\/\/upload.wikimedia.org\/wikipedia\/commons\/b\/bc\/Polio_spinal_diagram-en.svg<\/figcaption><\/figure><\/div>\n\n\n

SMA NEDEN OLUR?<\/h2>\n\n\n\n

Sinir sisteminde motor n\u00f6ronlar\u0131n hayatta kalmas\u0131n\u0131 sa\u011flayan SMN proteini bulunur. Bu protein motor n\u00f6ronlarda gen ekspresyonunda \u00f6nemli rol oynar. Bu proteinin eksikli\u011fi SMA’ya neden olur. SMN1 geni \u00fczerindeki 5.kromozom kusuru SMN eksikli\u011fine neden olur. SMA te\u015fhisi konan hastalarda en yayg\u0131n SMN1 mutasyonu exon 7 olarak bilinen t\u00fcm segmentin silinmesidir yani SMN1’in yok olmas\u0131d\u0131r. Kom\u015fu SMN2 genleri iki gen aras\u0131ndaki y\u00fcksek benzerlik nedeniyle SMN1 geni eksikli\u011fini k\u0131smen kompanse edebilir. SMA’n\u0131n SMN1 kusuru nedeniyle olu\u015fmayan nadir t\u00fcrleri de vard\u0131r.<\/p>\n\n\n\n

<\/p>\n\n\n

\n
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https:\/\/upload.wikimedia.org\/wikipedia\/commons\/e\/e9\/SMN1.png<\/figcaption><\/figure><\/div>\n\n\n

SMA T\u0130PLER\u0130<\/h2>\n\n\n\n

SMA’n\u0131n genel itibariyle 5 tipi vard\u0131r:<\/p>\n\n\n\n

  • Tip 0: Gebeli\u011fin son d\u00f6nemlerinde fetal hareketlili\u011fin azalmas\u0131 ile karakterizedir, bu bebeklerde erken do\u011fum g\u00f6r\u00fcl\u00fcr ve genellikle ciddi defektlere sahip olduklar\u0131ndan ilk 6 ay i\u00e7inde kaybedilirler.<\/li>
  • Tip 1: En \u015fiddetli tiptir ve 6 ayl\u0131ktan k\u00fc\u00e7\u00fck \u00e7ocuklarda geli\u015fir.<\/li>
  • Tip 2: Tip 1’den daha az \u015fiddetlidir 7-18 ayl\u0131k \u00e7ocuklarda geli\u015fir.<\/li>
  • Tip 3: Tip 1 ve 2’den daha az \u015fiddetlidir 18 ayl\u0131ktan b\u00fcy\u00fck \u00e7ocuklarda geli\u015fir.<\/li>
  • Tip 4: Genellikle hafif sorunlara neden olur ve yeti\u015fkinlerde geli\u015fir.<\/li><\/ul>\n\n\n\n

    Tip 1 ve 2’nin ya\u015fam s\u00fcresini etkilemesi beklenir ancak tip 3 ve 4’te beklenen ya\u015fam s\u00fcresinde genellikle bir de\u011fi\u015fiklik yoktur.<\/p>\n\n\n\n

    SMA HASTALI\u011eINDA SEMPTOMLAR<\/h2>\n\n\n\n

    Semptomlar\u0131n \u015fiddeti ve \u015fekli hastal\u0131\u011f\u0131n tipine g\u00f6re de\u011fi\u015fmekle birlikte genel olarak v\u00fccut merkezine yak\u0131n uzuvlarda hastal\u0131\u011f\u0131n etkileri daha fazla g\u00f6r\u00fcl\u00fcr. Genel olarak ise semptomlar:<\/p>\n\n\n\n

    • Sark\u0131k ve zay\u0131f uzuvlar.<\/li>
    • Oturma, emekleme ve y\u00fcr\u00fcmede sorunlar.<\/li>
    • Titreme.<\/li>
    • Yutma ve nefes almada zorluk.<\/li><\/ul>\n\n\n\n

      SMA’DA EP\u0130DEM\u0130YOLOJ\u0130<\/h2>\n\n\n\n

      SMA’da bu t\u00fcr epidemiyolojik \u00e7al\u0131\u015fmalar Yeni Do\u011fan SMA Taramas\u0131n\u0131n nas\u0131l ve ne ko\u015fullarda kullan\u0131lmas\u0131 hakk\u0131nda \u00f6nemli bilgiler sunar.<\/p>\n\n\n\n

      SMA insidans\u0131 6.000 ile 11.000 canl\u0131 do\u011fumda 1 olarak tahmin ediliyor ve SMN1 mutasyonu ta\u015f\u0131y\u0131c\u0131l\u0131k oran\u0131 genel pop\u00fclasyonda %2 ile %3 aras\u0131ndad\u0131r. \u0130nsidans etnik k\u00f6kene g\u00f6re de\u011fi\u015fmektedir.<\/p>\n\n\n\n

      K\u00fcba’da yap\u0131lan bir \u00e7al\u0131\u015fmada tip 1 SMA’l\u0131<\/strong> hastalar\u0131n verileri 6 y\u0131l boyunca incelenmi\u015f ve tip 1 SMA<\/strong> insidans\u0131n\u0131n toplumda 100.000 canl\u0131 do\u011fumda 3,53 oldu\u011fu sonucuna ula\u015f\u0131lm\u0131\u015ft\u0131r. Hastalar\u0131n kendi belirttikleri etnik k\u00f6kene g\u00f6re s\u0131n\u0131fland\u0131rma yap\u0131ld\u0131\u011f\u0131nda ise beyazlarda 100.000 canl\u0131 do\u011fumda 8 tip 1 SMA’l\u0131<\/strong> \u00e7ocuk do\u011fdu\u011fu, siyahlarda ise 100.000 canl\u0131 do\u011fumda 0,89 tip 1 SMA’l\u0131<\/strong> \u00e7ocuk do\u011fdu\u011fu g\u00f6zlenmi\u015ftir. Melezlerde ise bu oran 100.000 canl\u0131 do\u011fumda 0,96 olarak belirtilmi\u015ftir. <\/p>\n\n\n\n

      Umman’da retrospektif ve prospektif bir \u00e7al\u0131\u015fma yap\u0131lm\u0131\u015f ve bu \u00e7al\u0131\u015fmada hastalar klinik \u00f6zelliklerine g\u00f6re tip 1, tip 2 ve tip 3 olarak s\u0131n\u0131fland\u0131r\u0131lm\u0131\u015ft\u0131r. Tiplere g\u00f6re ayr\u0131m olmadan SMA insidans\u0131 6.000 canl\u0131 do\u011fumda 1 olarak raporlanm\u0131\u015ft\u0131r. T\u00fcm SMA vakalar\u0131n\u0131n %65’ini tip 1 SMA’l\u0131 <\/strong>vakalar\u0131n olu\u015fturdu\u011fu g\u00f6r\u00fclm\u00fc\u015ft\u00fcr. SMN delesyonu t\u00fcm vakalar\u0131n %70’inde g\u00f6r\u00fclm\u00fc\u015ft\u00fcr ve tip 1 SMA’l\u0131 vakalar\u0131n %83’\u00fcnde motor n\u00f6ron delesyonu g\u00f6r\u00fclm\u00fc\u015ft\u00fcr.<\/p>\n\n\n\n

      Estonya’da 1996-2020 y\u0131llar\u0131n\u0131 kapsayan geriye d\u00f6n\u00fck yap\u0131lan bir \u00e7al\u0131\u015fmada Estonya’daki SMA’l\u0131 do\u011fum prevalans\u0131 8,286’da 1 (%95 GA) olarak bulunmu\u015ftur. Tiplerin oranlar\u0131 ise SMA tip 0 (%1,8), SMA tip 1 (%43,9), SMA tip 2 (%22,8), SMA tip 3 (%29,8) ve SMA tip 4 (%1,8) olarak bulunmu\u015ftur.<\/p>\n\n\n\n

      <\/p>\n\n\n\n

      SMA’DA TE\u015eH\u0130S<\/h2>\n\n\n\n

      SMA’n\u0131n te\u015fhisi genellikle SMN1’in mutasyonunu saptayan genetik testlerle yap\u0131l\u0131r. SMA semptomatik olarak incelendi\u011finde \u00e7ok fazla ay\u0131r\u0131c\u0131 tan\u0131 imkan\u0131 vermedi\u011fi i\u00e7in bir yere kadar kesin te\u015fhis konulabilir. SMA i\u00e7in erken te\u015fhis imkanlar\u0131 mevcuttur bunlar preimplantasyon ve do\u011fum \u00f6ncesi te\u015fhis y\u00f6ntemleridir.<\/p>\n\n\n\n

      09.05.2022 tarihi itibariyle \u00fclkemizde Yenido\u011fan Metabolik ve Endokrin Tarama Program\u0131na SMA taramas\u0131 da eklenmi\u015ftir.<\/p>\n\n\n\n

      <\/p>\n\n\n\n

      SMA’DA TEDAV\u0130<\/h2>\n\n\n\n

      2016’n\u0131n Aral\u0131k ay\u0131nda ABD G\u0131da ve \u0130la\u00e7 Dairesi (FDA), SMA’l\u0131 bireyleri tedavi etmek i\u00e7in onaylanan ilk ila\u00e7 olarak nusinerseni (Spinraza\u2122) onaylad\u0131. Nusinersen SMN proteini miktar\u0131n\u0131 art\u0131rarak fonksiyonel SMN2 \u00fcretimini destekleyen intratekal olarak verilen bir antisens oligon\u00fckleotittir (ASO). \u0130la\u00e7, omurilik s\u0131v\u0131s\u0131na enjekte edilerek uygulan\u0131r. Erken ba\u015flan\u0131lan nusinersen tedavisinin olumlu sonu\u00e7lara yol a\u00e7t\u0131\u011f\u0131 raporlanm\u0131\u015ft\u0131r. <\/p>\n\n\n

      \n
      \"\"
      Nusinersen
      https:\/\/upload.wikimedia.org\/wikipedia\/commons\/thumb\/7\/7e\/Nusinersen_sodium_colored.svg\/768px-Nusinersen_sodium_colored.svg.png?20170313145349<\/figcaption><\/figure><\/div>\n\n\n

      <\/p>\n\n\n\n

      2019’un May\u0131s ay\u0131nda ise FDA infantil ba\u015flang\u0131\u00e7l\u0131 SMA’s\u0131 olan 2 ya\u015f\u0131ndan k\u00fc\u00e7\u00fck \u00e7ocuklar i\u00e7in onasemnogen abeparovec-xioi (Zolgensma \u2122) gen tedavisini onaylad\u0131. G\u00fcvenli bir vir\u00fcs, hedeflenen motor n\u00f6ronlara tamamen i\u015flevsel bir insan SMN genini iletir, bu da kas hareketini ve i\u015flevini geli\u015ftirir. Bu bir kerelik intraven\u00f6z enjeksiyon gen tedavisi, adeno-ili\u015fkili vir\u00fcs serotip 9’u kullan\u0131r ve onu SMN1 genini h\u00fccrelere iletmek ve b\u00f6ylece v\u00fccudun fonksiyonel SMN proteini \u00fcretmesini sa\u011flamak i\u00e7in kullan\u0131r.<\/p>\n\n\n\n

      2020’nin A\u011fustos ay\u0131nda FDA iki ayl\u0131k ve daha b\u00fcy\u00fck ya\u015ftaki hastalar\u0131 SMA ile tedavi etmek i\u00e7in a\u011f\u0131zdan verilen ila\u00e7 risdiplam\u0131 (Evrysdi) onaylad\u0131. Bu ila\u00e7, SMN2 eklemesini (splicing) de\u011fi\u015ftirir ve b\u00f6ylece fonksiyonel SMN protein seviyelerini art\u0131rarak \u00e7al\u0131\u015f\u0131r.<\/p>\n\n\n

      \n
      \"\"
      Risdiplam
      https:\/\/upload.wikimedia.org\/wikipedia\/commons\/e\/e7\/Risdiplam.svg<\/figcaption><\/figure><\/div>\n\n\n

      Bu t\u00fcr tedavilere ek olarak fiziksel rehabilitasyon kaslarda i\u015flev kayb\u0131n\u0131n azalt\u0131lmas\u0131na ve kaybedilen i\u015flevin geri kazan\u0131lmas\u0131na olanak sa\u011flayabilir.<\/p>\n\n\n\n

      KAYNAK\u00c7A<\/h2>\n\n\n\n

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      Zald\u00edvar T, Montejo Y, Acevedo AM, Guerra R, Vargas J, Garofalo N, Alvarez R, Alvarez MA, Hardiman O. Evidence of reduced frequency of spinal muscular atrophy type I in the Cuban population. Neurology. 2005 Aug 23;65(4):636-8. doi: 10.1212\/01.wnl.0000172860.41953.12. PMID: 16116135.<\/p>\n\n\n\n

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      Ogino, S. & Wilson, R. B. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Human Genetics<\/em> (2002). doi:10.1007\/s00439-002-0828-x<\/p>\n\n\n\n

      Lefebvre, S. et al.<\/em> Identification and characterization of a spinal muscular atrophy-determining gene. Cell<\/em> (1995). doi:10.1016\/0092-8674(95)90460-3<\/p>\n\n\n\n

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      Arnold, W. D., Kassar, D. & Kissel, J. T. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era. Muscle and Nerve<\/em> (2015). doi:10.1002\/mus.24497<\/p>\n\n\n\n

      Sarv S, Kahre T, Vaidla E, Pajusalu S, Muru K, P\u00f5der H, Gross-Paju K, \u00dctt S, \u017dordania R, Talvik I, \u00d5iglane-Shlik E, Muhu K, \u00d5unap K. The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia. Front Genet. 2021 Dec 22;12:796862. doi: 10.3389\/fgene.2021.796862. PMID: 35003227; PMCID: PMC8729775.<\/p>\n\n\n\n

      Claborn MK, Stevens DL, Walker CK, Gildon BL. Nusinersen: A Treatment for Spinal Muscular Atrophy. Ann Pharmacother. 2019 Jan;53(1):61-69. doi: 10.1177\/1060028018789956. Epub 2018 Jul 16. PMID: 30008228.<\/p>\n\n\n\n

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      Malone DC, Dean R, Arjunji R, Jensen I, Cyr P, Miller B, Maru B, Sproule DM, Feltner DE, Dabbous O. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019 May 8;7(1):1601484. doi: 10.1080\/20016689.2019.1601484. PMID: 31105909; PMCID: PMC6508058.<\/p>\n\n\n\n

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      Mahajan R. Onasemnogene Abeparvovec for Spinal Muscular Atrophy: The Costlier Drug Ever. Int J Appl Basic Med Res. 2019 Jul-Sep;9(3):127-128. doi: 10.4103\/ijabmr.IJABMR_190_19. PMID: 31392173; PMCID: PMC6652281.<\/p>\n\n\n\n

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      https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK560687\/#<\/a><\/p>\n\n\n\n

      https:\/\/www.ninds.nih.gov\/spinal-muscular-atrophy-fact-sheet<\/a><\/p>\n\n\n\n

      https:\/\/tr.wikipedia.org\/wiki\/Spinal_m%C3%BCsk%C3%BCler_atrofi#cite_note-NORD2019-2<\/a><\/p>\n\n\n\n

      https:\/\/hsgm.saglik.gov.tr\/tr\/cocukergen-tp-liste.html?view=article&id=6711&catid=880<\/a><\/p>\n\n\n\n

      https:\/\/en.wikipedia.org\/wiki\/Spinal_muscular_atrophy<\/a><\/p>\n\n\n\n

      https:\/\/www.acibadem.com.tr\/ilgi-alani\/sma-hastaligi\/<\/a><\/p>\n\n\n\n

      https:\/\/www.nhs.uk\/conditions\/spinal-muscular-atrophy-<\/a><\/p>\n\n\n\n

      sma\/#:~:text=Spinal%20muscular%20atrophy%20(SMA)%20is,to%20help%20manage%20the%20symptoms.<\/a><\/p>\n\n\n\n

      <\/p>\n\n\n\n

      <\/p>\n","protected":false},"excerpt":{"rendered":"

      SMA HASTALI\u011eI NED\u0130R? Spinal musk\u00fcler atrofi ya da k\u0131saca SMA son d\u00f6nemlerde bir\u00e7o\u011fumuzun s\u0131k s\u0131k duymaya ba\u015flad\u0131\u011f\u0131 bir hastal\u0131k. SMA<\/p>\n","protected":false},"author":1139,"featured_media":12813,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1,2173],"tags":[115,76,513,2370,2369,2339,2338,66],"acf":[],"views":401,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12528"}],"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\/1139"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=12528"}],"version-history":[{"count":24,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12528\/revisions"}],"predecessor-version":[{"id":12816,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12528\/revisions\/12816"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/12813"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=12528"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=12528"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=12528"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}