{"id":2318,"date":"2023-10-11T08:53:58","date_gmt":"2023-10-11T05:53:58","guid":{"rendered":"https:\/\/pharmaworlddergi.com\/?p=2318"},"modified":"2023-10-16T10:01:13","modified_gmt":"2023-10-16T07:01:13","slug":"nadir-hastaliklarla-yasayan-insanlarin-yasamlarini-iyilestirmek-icin-tum-gucumuzle-calisiyoruz-copy","status":"publish","type":"post","link":"https:\/\/pharmaworlddergi.com\/?p=2318","title":{"rendered":"Nadir Hastal\u0131klarla Ya\u015fayan \u0130nsanlar\u0131n Ya\u015famlar\u0131n\u0131 \u0130yile\u015ftirmek \u0130\u00e7in T\u00fcm G\u00fcc\u00fcm\u00fczle \u00c7al\u0131\u015f\u0131yoruz"},"content":{"rendered":"\n

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Alexion T\u00fcrkiye Hematoloji & Nefroloji Ekibi<\/strong><\/p>\n\n\n\n

Nadir hastal\u0131klar alan\u0131nda d\u00fcnyada 30 y\u0131ldan fazla s\u00fcredir, T\u00fcrkiye’de ise 2010 y\u0131l\u0131ndan beri hizmet veren Alexion, AstraZeneca Nadir Hastal\u0131klar Ekibi ile PNH ve aH\u00dcS hastal\u0131klar\u0131n\u0131 ve bu alanda ne gibi \u00e7al\u0131\u015fmalar yapt\u0131klar\u0131n\u0131 konu\u015ftuk.<\/strong><\/p>\n\n\n\n

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Alexion, AstraZeneca nadir hastal\u0131klar ekibi olarak sizleri biraz tan\u0131yabilir miyiz?<\/strong><\/p>\n\n\n\n

Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye Genel M\u00fcd\u00fcr\u00fc Derya K\u00f6ker:<\/strong><\/p>\n\n\n

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Global biyoteknoloji \u015firketi Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye olarak, nadir hastal\u0131klar alan\u0131nda d\u00fcnyada 30 y\u0131ldan fazla s\u00fcredir, T\u00fcrkiye’de ise 2010 y\u0131l\u0131ndan beri hizmet veriyoruz. Etik de\u011ferlerimize uygun olarak y\u00fcksek niteliklere sahip ekibimizle birlikte nadir ve y\u0131k\u0131c\u0131 olan hastal\u0131klara y\u00f6nelik inovatif \u00fcr\u00fcnler sunuyor, bu hastal\u0131klardan etkilenen insanlar\u0131 ve ailelerini, hayatlar\u0131n\u0131 d\u00f6n\u00fc\u015ft\u00fcrmeye yard\u0131mc\u0131 olacak teknoloji ve sa\u011fl\u0131k hizmetleri ile destekliyoruz. <\/a> <\/p>\n\n\n\n

\u00d6zverili ve yetenekli tak\u0131m arkada\u015flar\u0131m\u0131z ile birlikte, yenilik\u00e7i ila\u00e7lar\u0131n geli\u015ftirilmesi ve hastalara sunulmas\u0131n\u0131n yan\u0131 s\u0131ra destekleyici teknolojiler ve sa\u011fl\u0131k hizmetleri yoluyla T\u00fcrkiye’de nadir hastal\u0131klarla ya\u015fayan insanlar\u0131n ya\u015famlar\u0131n\u0131 iyile\u015ftirmek i\u00e7in t\u00fcm g\u00fcc\u00fcm\u00fczle \u00e7al\u0131\u015f\u0131yoruz. <\/p>\n\n\n\n

Orta Do\u011fu Teknik \u00dcniversitesi Molek\u00fcler Biyoloji b\u00f6l\u00fcm\u00fcnden mezun olduktan sonra, Ankara \u00dcniversitesi\u2019nde Farmas\u00f6tik Y\u00f6netimi alan\u0131nda y\u00fcksek lisans yapt\u0131m. 2015 y\u0131l\u0131ndan beri Alexion, AstraZeneca Nadir Hastal\u0131klar b\u00fcnyesinde \u00e7al\u0131\u015f\u0131yorum. Son sekiz senede \u015firkette \u00e7e\u015fitli sorumluluklar \u00fcstlendim. Pazarlama Lideri olarak ba\u015flad\u0131\u011f\u0131m g\u00f6revime, Kompleman \u0130\u015f Birimi Direkt\u00f6r\u00fc olarak devam ettim ve son olarak da 2018 y\u0131l\u0131 Ekim ay\u0131nda Genel M\u00fcd\u00fcr olarak atand\u0131m. \u0130la\u00e7 sekt\u00f6r\u00fcnde 26 y\u0131l\u0131 a\u015fk\u0131n bir deneyimim bulunuyor.<\/p>\n\n\n\n

Belma Bozkurt \u2013 Hematoloji & Nefroloji \u0130\u015f Birimi Direkt\u00f6r\u00fc:<\/strong><\/p>\n\n\n

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Marmara \u00dcniversitesi \u0130\u015fletme B\u00f6l\u00fcm\u00fcn\u00fc ve Yeditepe \u00dcniversitesi\u2019nde burslu olarak MBA e\u011fitimini onur derecesi ile tamamlad\u0131m. Profesyonel kariyerime Abdi \u0130brahim \u0130la\u00e7\u2019ta Management Trainee olarak ba\u015flad\u0131m, ard\u0131ndan Novo Nordisk firmas\u0131nda \u00dcr\u00fcn M\u00fcd\u00fcrl\u00fc\u011f\u00fc ve B\u00f6lgesel \u00dcr\u00fcn M\u00fcd\u00fcrl\u00fc\u011f\u00fc, Merck\u2019 te Pazarlama M\u00fcd\u00fcrl\u00fc\u011f\u00fc yaparak MS ve endokrin alan\u0131nda lansman s\u00fcre\u00e7lerine liderlik ettim. Abdi \u0130brahim \u0130la\u00e7 Romatoloji i\u015f birim y\u00f6neticili\u011fini takiben Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye\u2019ye Hematoloji & Nefroloji \u0130\u015f Birim Direkt\u00f6r\u00fc olarak temmuz ay\u0131nda g\u00f6reve ba\u015flad\u0131m. <\/p>\n\n\n\n

\u0130la\u00e7 sekt\u00f6r\u00fcnde 17 y\u0131ld\u0131r sat\u0131\u015f ve pazarlama y\u00f6netimi alan\u0131nda \u00e7al\u0131\u015f\u0131yorum. On farkl\u0131 terap\u00f6tik alanda kazand\u0131\u011f\u0131m sat\u0131\u015f, pazarlama tecr\u00fcbesi ile lansman, CSO, lisans\u00f6r ili\u015fkileri, orjinal, jenerik molek\u00fcller ve biyoteknoloji alanlar\u0131nda tecr\u00fcbe kazand\u0131m. Nadir hastal\u0131klar alan\u0131nda \u00e7al\u0131\u015farak insanlar\u0131n hayatlar\u0131na pozitif dokunu\u015flarda bulunabilmek, bu g\u00f6revi severek yapmam\u0131n en \u00f6nemli sebebi.<\/p>\n\n\n\n

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Dr. O\u011fuz Y\u0131lmazer- Medikal Direkt\u00f6r:<\/strong><\/p>\n\n\n

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G\u00fclhane Asker\u00ee T\u0131p Akademisi (GATA) mezunuyum. 7 sene hekimlik yapt\u0131ktan sonra 2009 y\u0131l\u0131nda Novartis Onkoloji\u2019de MSL olarak sekt\u00f6re giri\u015f yapt\u0131m. Daha sonra Boehringer Ingelheim firmas\u0131nda Medikal M\u00fcd\u00fcr olarak \u00e7al\u0131\u015ft\u0131m. 2011 y\u0131l\u0131nda ise AstraZeneca T\u00fcrkiye\u2019de \u00e7al\u0131\u015fmaya ba\u015flad\u0131m.<\/p>\n\n\n\n

Kardiyovask\u00fcler, metabolizma, solunum ve onkoloji tedavi alanlar\u0131nda yine medikal departman i\u00e7erisinde Grup Medikal M\u00fcd\u00fcr, \u00dclke Medikal Direkt\u00f6r\u00fc, MEA ve uluslararas\u0131 roller dahil olmak \u00fczere farkl\u0131 sorumluklar \u00fcstlendim. Eyl\u00fcl ay\u0131nda ise Alexion AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye Medikal Direkt\u00f6r\u00fc olarak atand\u0131m.<\/p>\n\n\n\n

Dr. G\u00f6k\u00e7e Aydo\u011fdu \u2013 Medikal Direkt\u00f6r Yard\u0131mc\u0131s\u0131:<\/strong><\/p>\n\n\n

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Celal Bayar \u00dcniversitesi T\u0131p Fak\u00fcltesi mezunuyum. Mezuniyetimin ard\u0131ndan farkl\u0131 alanlarda 9 y\u0131ll\u0131k hekimlik tecr\u00fcbem sonras\u0131nda ila\u00e7 end\u00fcstrisinde \u00e7al\u0131\u015fmalar\u0131ma devam etmeye karar verdim. 11 y\u0131ll\u0131k tecr\u00fcbemde g\u00f6z, retina hastal\u0131klar\u0131 ve nefroloji, n\u00f6roloji nadir hastal\u0131klar alanlar\u0131nda \u00e7al\u0131\u015fmalar\u0131m\u0131 s\u00fcrd\u00fcrd\u00fcm. Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye Bilim departman\u0131nda Medikal Direkt\u00f6r Yard\u0131mc\u0131s\u0131 olarak \u00e7al\u0131\u015f\u0131yorum. <\/p>\n\n\n\n

Bu alanlarda \u00e7al\u0131\u015fma s\u00fcrecim boyunca, her yeni g\u00fcne uyand\u0131\u011f\u0131mda, bug\u00fcn nadir hastal\u0131klar ile m\u00fccadele eden hangi hastan\u0131n hayat\u0131n\u0131 normal sa\u011fl\u0131kl\u0131 bir birey gibi s\u00fcrd\u00fcrmesini sa\u011flayabilirim<\/em> d\u00fc\u015f\u00fcncesi ana misyonum oldu. Bilim departman\u0131 \u00e7al\u0131\u015fan\u0131 olarak \u00fclkemizde nadir hastal\u0131klar\u0131n fark\u0131ndal\u0131\u011f\u0131n\u0131 art\u0131rarak bu alanda \u00e7\u00f6z\u00fcm bekleyen hastalara do\u011fru zamanda, do\u011fru tedavilerin ula\u015ft\u0131r\u0131lmas\u0131n\u0131n \u00f6nemini \u00f6zellikle vurgulamak isterim.<\/p>\n\n\n\n

Dr. Ufuk \u00c7ak\u0131r – Medikal Direkt\u00f6r Yard\u0131mc\u0131s\u0131:<\/strong><\/p>\n\n\n

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Alexion, AstraZeneca Nadir Hastal\u0131klar\u2019da PNH, NMOSD ve Metabolizma alanlar\u0131ndan sorumlu Medikal Direkt\u00f6r Yard\u0131mc\u0131s\u0131 olarak \u00e7al\u0131\u015f\u0131yorum. Ankara \u00dcniversitesi T\u0131p Fak\u00fcltesi mezunuyum ve Aile Hekimli\u011fi Uzman\u0131y\u0131m.<\/p>\n\n\n\n

Farma sekt\u00f6r\u00fcne 2013 y\u0131l\u0131nda Abbott EPD\u2019de kardiyoloji, endokrinoloji, gastroenteroloji ve genel Cerrahi alanlar\u0131ndan sorumlu MSL olarak ba\u015flad\u0131m. Alexion’a 9 y\u0131l \u00f6nce PNH\u2019dan sorumlu Medikal Dan\u0131\u015fman olarak ekibe kat\u0131ld\u0131m. Alexion\u2019da Diagnostik Servis, GATM, Med-info gibi farkl\u0131 sorumluluklar \u00fcstlendim.<\/p>\n\n\n\n

Zeynep \u00d6zcan \u2013 K\u0131demli \u00dcr\u00fcn M\u00fcd\u00fcr\u00fc:<\/strong><\/p>\n\n\n

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Orta Do\u011fu Teknik \u00dcniversitesi Bilgisayar M\u00fchendisli\u011fi mezunuyum. Ard\u0131ndan Barcelona School of Economics\u2019te Ekonomi ve Finans y\u00fcksek lisans program\u0131n\u0131 tamamlad\u0131m. 2023 y\u0131l\u0131n\u0131n may\u0131s ay\u0131nda PNH endikasyonundan sorumlu K\u0131demli \u00dcr\u00fcn M\u00fcd\u00fcr\u00fc olarak Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye\u2019ye kat\u0131ld\u0131m. 10 y\u0131ll\u0131k ila\u00e7 end\u00fcstrisi deneyimim \u00f6ncesinde bir y\u0131ll\u0131k bili\u015fim sistemleri alan\u0131nda tecr\u00fcbem bulunuyor. \u0130la\u00e7 end\u00fcstrisinde a\u011fr\u0131, alerji ve metabolik hastal\u0131klar alanlar\u0131nda pazarlama, stratejik planlama ve sat\u0131\u015f y\u00f6neticili\u011fi gibi rollerde g\u00f6rev ald\u0131m.<\/p>\n\n\n\n

Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye Hematoloji & Nefroloji ekibi olarak att\u0131\u011f\u0131m\u0131z her ad\u0131mda s\u00fcrekli yenilik\u00e7i bir yakla\u015f\u0131m sergileyerek nadir hastal\u0131klardan ve y\u0131k\u0131c\u0131 sonu\u00e7lar\u0131ndan etkilenen hastalara umut olmak i\u00e7in var g\u00fcc\u00fcm\u00fczle \u00e7al\u0131\u015f\u0131yoruz.<\/p>\n\n\n\n

Ecz. Erdem Kolbak\u0131r \u2013 K\u0131demli \u00dcr\u00fcn M\u00fcd\u00fcr\u00fc:<\/strong><\/p>\n\n\n

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Hacettepe \u00dcniversitesi Eczac\u0131l\u0131k Fak\u00fcltesi mezunuyum. Ard\u0131ndan Bilgi \u00dcniversitesi’nde \u0130\u015fletme y\u00fcksek lisans program\u0131n\u0131 tamamlad\u0131m. <\/p>\n\n\n\n

2022 y\u0131l\u0131n\u0131n temmuz ay\u0131nda aH\u00dcS endikasyonundan sorumlu K\u0131demli \u00dcr\u00fcn M\u00fcd\u00fcr\u00fc olarak Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye\u2019ye kat\u0131ld\u0131m. <\/p>\n\n\n\n

10 y\u0131ll\u0131k ila\u00e7 end\u00fcstrisi deneyimim boyunca onkoloji, hematoloji ve nefroloji tedavi alanlar\u0131nda pazarlama, sat\u0131\u015f ve medikal departmanlarda \u00e7e\u015fitli roller \u00fcstlendim.<\/p>\n\n\n\n

Ali Alt\u0131parmak \u2013 B\u00f6lge Sat\u0131\u015f M\u00fcd\u00fcr\u00fc:<\/strong><\/p>\n\n\n

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Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye\u2019de B\u00f6lge Sat\u0131\u015f M\u00fcd\u00fcr\u00fc olarak \u00e7al\u0131\u015f\u0131yorum. Ba\u015fkent \u00dcniversitesi Sa\u011fl\u0131k Kurumlar\u0131 \u0130\u015fletmecili\u011fi mezunuyum. <\/p>\n\n\n\n

Farma end\u00fcstrisine 2009 y\u0131l\u0131nda Novartis\u2019te kardiyovask\u00fcler ve metabolizma alanlar\u0131ndan sorumlu T\u0131bbi M\u00fcmessil olarak ba\u015flad\u0131m. 2012 y\u0131l\u0131nda Medtronic Medikal \u015firketinde n\u00f6ro\u015firurji ve psikiyatri alanlar\u0131ndan sorumlu Sat\u0131\u015f Uzman\u0131 olarak devam ettim. 2014 y\u0131l\u0131nda Alexion ekibine hematoloji ve nefroloji alanlar\u0131ndan sorumlu B\u00f6lge \u00dcnite M\u00fcd\u00fcr\u00fc olarak ba\u015flad\u0131m. Hala ayn\u0131 alanlardan sorumlu Sat\u0131\u015f M\u00fcd\u00fcr\u00fc olarak \u00e7al\u0131\u015f\u0131yorum.<\/p>\n\n\n\n

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Alexion, AstraZeneca Nadir Hastal\u0131klar olarak son derece spesifik bir alana hizmet ediyorsunuz. Nadir hastal\u0131klara \u00f6zel \u00e7al\u0131\u015fman\u0131n nas\u0131l dinamikleri var, Alexion, AstraZeneca Nadir Hastal\u0131klar olarak y\u00fcr\u00fctt\u00fc\u011f\u00fcn\u00fcz \u00e7al\u0131\u015fmalar\u0131 biraz anlat\u0131r m\u0131s\u0131n\u0131z?<\/strong><\/p>\n\n\n\n

Genel M\u00fcd\u00fcr Derya K\u00f6ker:<\/strong> Etik de\u011ferlerimize uygun olarak y\u00fcksek niteliklere sahip ekibimizle birlikte nadir ve y\u0131k\u0131c\u0131 olan hastal\u0131klara y\u00f6nelik inovatif \u00fcr\u00fcnler sunuyor, bu hastal\u0131klardan etkilenen insanlar\u0131 ve ailelerini, hayatlar\u0131n\u0131 d\u00f6n\u00fc\u015ft\u00fcrmeye yard\u0131mc\u0131 olacak teknoloji ve sa\u011fl\u0131k hizmetleri ile destekliyoruz.  <\/p>\n\n\n\n

Nadir Hastal\u0131klar, Avrupa ve di\u011fer geli\u015fmi\u015f \u00fclkelerdeki tan\u0131m\u0131yla; 10.000\u2019de 5 ya da daha az s\u0131kl\u0131kta g\u00f6r\u00fclen, \u00e7o\u011fu ilerleyici, metabolik, kronik ve baz\u0131lar\u0131 \u00f6l\u00fcmc\u00fcl olabilen hastal\u0131klard\u0131r.\u202fLiterat\u00fcrde 10.000’den fazla nadir hastal\u0131k tan\u0131mlanm\u0131\u015ft\u0131r ve bunlar\u0131n %80’inin genetik ge\u00e7i\u015fli oldu\u011fu bilinmektedir. 1,2 <\/sup>D\u00fcnya \u00e7ap\u0131nda tahmini 400 milyon insan nadir g\u00f6r\u00fclen bir hastal\u0131\u011fa sahiptir. 3<\/sup> Nadir g\u00f6r\u00fclen bir hastal\u0131kla ya\u015fayan bir ki\u015finin as\u0131l te\u015fhisinin konma s\u00fcresi ortalama 4.8 y\u0131l\u0131 bulmaktad\u0131r ve bu s\u00fcre 5 ila 10 y\u0131la kadar uzayabilmektedir.4, 5<\/sup> Nadir hastal\u0131klardan etkilenenler, te\u015fhiste gecikmeler, yetersiz sosyo-sa\u011fl\u0131k kaynaklar\u0131, gerekli tedavilere gecikmeli ula\u015fma, s\u0131n\u0131rl\u0131 bilgi veya referans merkezlerine ve uzmanlara eri\u015fim gibi zorluklarla kar\u015f\u0131 kar\u015f\u0131ya kalmaktad\u0131r. <\/p>\n\n\n\n

Hastalar\u0131n yakla\u015f\u0131k %50\u2019sini \u00e7ocuklar olu\u015fturmakta, bu \u00e7ocuklar\u0131n %30\u2019u 5 ya\u015f\u0131n\u0131 g\u00f6rememektedir. 6,7<\/sup> Bu durumun en temel sebebi; nadir hastal\u0131klar\u0131n sadece y\u00fczde 5’inin te\u015fhis edildi\u011finde etkili bir tedavi y\u00f6nteminin bulunmas\u0131d\u0131r. 8<\/sup><\/p>\n\n\n\n

Hastal\u0131klar\u0131n nadir g\u00f6r\u00fcl\u00fcyor olmas\u0131, uzmanl\u0131k, klinik \u00e7al\u0131\u015fmalar, tedavi merkezleri, gerekli hasta say\u0131s\u0131 ve i\u015f birli\u011fi konular\u0131ndaki eksikli\u011fe; bunlara ba\u011fl\u0131 olarak yenilik\u00e7i yakla\u015f\u0131mlar\u0131n geli\u015ftirilmesinde ya\u015fanan s\u0131k\u0131nt\u0131lara; AR-GE \u00e7al\u0131\u015fmalar\u0131nda k\u0131s\u0131tlara sebep olmaktad\u0131r. Halbuki nadir hastal\u0131klar insan genomunun haritalanmas\u0131 ve klonlama gibi \u00e7e\u015fitli \u00e7\u0131\u011f\u0131r a\u00e7\u0131c\u0131 yeniliklere vesile olmu\u015ftur.<\/p>\n\n\n\n

Nadir g\u00f6r\u00fclen hastal\u0131klar ve y\u0131k\u0131c\u0131 ko\u015fullar alt\u0131nda ya\u015fayan insanlar bizi, t\u0131bb\u0131n, teknolojinin ve sa\u011fl\u0131k hizmetlerinin s\u0131n\u0131rlar\u0131n\u0131 zorlamaya itiyor. Amac\u0131m\u0131z, onlar\u0131n hayat\u0131n\u0131 iyi y\u00f6nde d\u00f6n\u00fc\u015ft\u00fcrmektir. Bunun i\u00e7in de ihtiyac\u0131n b\u00fcy\u00fck \u00f6l\u00e7\u00fcde kar\u015f\u0131lanamad\u0131\u011f\u0131 ve hastalar ile ailelerine yard\u0131m f\u0131rsat\u0131 bulunan alanlara evrilmeye ve onlara y\u00f6nelik inovasyon yapmaya devam ediyor ve \u00fcr\u00fcnlerimizi \u015fimdi oldu\u011fu gibi 2024 ve sonras\u0131nda da T\u00fcrkiye\u2019de daha fazla hastaya ula\u015ft\u0131rmay\u0131 hedefliyoruz.  <\/p>\n\n\n\n

PNH nas\u0131l bir hastal\u0131kt\u0131r tan\u0131mlar m\u0131s\u0131n\u0131z, belirtileri nelerdir? T\u00fcrkiye ve d\u00fcnyada g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 nedir?<\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> Paroksismal Nokt\u00fcrnal Hemoglobin\u00fcri (PNH), k\u0131rm\u0131z\u0131 kan h\u00fccrelerinin par\u00e7alanmas\u0131, p\u0131ht\u0131 olu\u015fumu ve kemik ili\u011fi yetmezli\u011fi ile karakterize bir hastal\u0131kt\u0131r. Genellikle 30\u2019lu ya\u015flarda ve gen\u00e7 eri\u015fkinlerde daha s\u0131k g\u00f6r\u00fclse de hemen hemen b\u00fct\u00fcn ya\u015flarda g\u00f6r\u00fclebilmektedir. Erkek ve kad\u0131nlar\u0131 e\u015fit oranda etkileyen bu hastal\u0131k, kemik ili\u011finde yer alan k\u00f6k h\u00fccrenin geneti\u011finde, sonradan kazan\u0131lan (aileden ge\u00e7meyen) bir mutasyon sonucu olu\u015fmaktad\u0131r. Bu mutasyon nedeniyle, k\u0131rm\u0131z\u0131 kan h\u00fccrelerini koruyan bir protein \u00fcretilememekte ve kompleman sistemi taraf\u0131ndan v\u00fccudun alyuvarlar\u0131n\u0131n par\u00e7alanmas\u0131 s\u00f6z konusu olmaktad\u0131r.<\/p>\n\n\n\n

Paroksismal Nokt\u00fcrnal Hemoglobin\u00fcri (PNH) semptomlar\u0131 aras\u0131nda anemi (kans\u0131zl\u0131k), bitkinlik, p\u0131ht\u0131 olu\u015fumu, nefes darl\u0131\u011f\u0131, kar\u0131n a\u011fr\u0131s\u0131, yutma g\u00fc\u00e7l\u00fc\u011f\u00fc, idrarda k\u0131rm\u0131z\u0131 renk bulunmaktad\u0131r. K\u0131rm\u0131z\u0131 kan h\u00fccreleri par\u00e7aland\u0131\u011f\u0131 i\u00e7in anemi olu\u015fmaktad\u0131r. Bitkinlik, k\u0131rm\u0131z\u0131 kan h\u00fccrelerinin par\u00e7alanmas\u0131na ba\u011fl\u0131 olu\u015fmakta ve hastalar\u0131n g\u00fcnl\u00fck ya\u015fam aktivitelerini yapamamas\u0131na ve ya\u015fam kalitelerinin bozulmas\u0131na neden olmaktad\u0131r. Hastalar\u0131n y\u00fczde 17\u2019si bitkinlik nedeni ile i\u015fe gidememekte ve \u00e7al\u0131\u015famamaktad\u0131r. Ayr\u0131ca v\u00fccudun b\u00fct\u00fcn damarlar\u0131nda g\u00f6r\u00fclebilen p\u0131ht\u0131 olu\u015fumlar\u0131, hayat\u0131 tehdit etmekte olup \u00f6l\u00fcmlerin ilk s\u0131radaki nedenidir. Yine k\u0131rm\u0131z\u0131 kan h\u00fccrelerinin par\u00e7alanmas\u0131na ba\u011fl\u0131 olarak nitrik oksit d\u00fczeyi azalmakta ve d\u00fc\u015f\u00fck nitrik oksit d\u00fczeyi nedeni ile kar\u0131n a\u011fr\u0131s\u0131, yutma g\u00fc\u00e7l\u00fc\u011f\u00fc ve nefes darl\u0131\u011f\u0131 olu\u015fabilmektedir. K\u0131rm\u0131z\u0131 kan h\u00fccrelerinin par\u00e7alanma \u00fcr\u00fcnleri (hemoglobin) idrara ge\u00e7erek idrar rengini k\u0131rm\u0131z\u0131 renge \u00e7evirmektedir.<\/p>\n\n\n\n

PNH, genetik bir mutasyon sonucu olu\u015fsa da aileden genetik mutasyon ge\u00e7i\u015fi yoktur, mutasyon do\u011fumdan sonra genellikle 30\u2019lu ya\u015flarda olu\u015fmaktad\u0131r.  PNH\u2019n\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 milyonda 15,9 vakad\u0131r9<\/sup>.                                                                                                             <\/p>\n\n\n\n

PNH nas\u0131l tedavi edilir? Hastaya etkin bir tedavi sa\u011flanmazsa hastada bunun ne gibi sonu\u00e7lar\u0131 olur?<\/strong><\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> G\u00fcn\u00fcm\u00fczde PNH tedavisinde, k\u0131rm\u0131z\u0131 kan h\u00fccrelerinin par\u00e7alanmas\u0131n\u0131 \u00f6nlemek i\u00e7in kompleman sistemini bask\u0131layan tedaviler kullan\u0131lmaktad\u0131r. Kemik ili\u011fi nakli tedavi se\u00e7eneklerinden biri olmakla birlikte sadece baz\u0131 k\u0131s\u0131tl\u0131 say\u0131da ve uygun hastada, \u00f6zel durumlarda kullan\u0131labilmektedir. PNH hastalar\u0131nda ayr\u0131ca demir, vitamin B12, folik asit gibi destekleyici tedaviler de kullan\u0131labilmektedir.<\/p>\n\n\n\n

PNH hastalar\u0131n\u0131n erken tan\u0131 almas\u0131 ve tedavi ba\u015flanmas\u0131, hastalar\u0131n hayat\u0131 tehdit edici p\u0131ht\u0131 olu\u015fumdan korunmas\u0131 i\u00e7in \u00e7ok \u00f6nemli bir yarar sa\u011flamaktad\u0131r.<\/p>\n\n\n\n

PNH hastal\u0131\u011f\u0131na s\u0131kl\u0131kla e\u015flik eden di\u011fer hastal\u0131klar nelerdir?<\/strong><\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> PNH hastal\u0131\u011f\u0131na kemik ili\u011finin az \u00e7al\u0131\u015fmas\u0131 ile karakterize Aplastik Anemi veya Myelodisplastik Sendrom gibi hastal\u0131klar e\u015flik edebilir. Bu tan\u0131y\u0131 alan hastalar\u0131n da mutlaka tan\u0131 k\u0131lavuzlar\u0131na g\u00f6re semptom ve bulgu g\u00f6stermese de PNH a\u00e7\u0131s\u0131ndan de\u011ferlendirilmesi gerekir.   <\/p>\n\n\n\n

aH\u00dcS\u2019\u00fc tan\u0131mlayarak, g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131, belirtileri hakk\u0131nda bilgi verir misiniz?<\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> Atipik Hemolitik \u00dcremik Sendrom (aH\u00dcS), v\u00fccudun savunma mekanizmas\u0131n\u0131n kompleman sistemi ad\u0131 verilen \u00f6zel bir b\u00f6l\u00fcm\u00fcn\u00fcn, genellikle kompleman sisteminin normal i\u015fleyi\u015findeki genetik bir kusur nedeniyle a\u015f\u0131r\u0131 aktif oldu\u011fu bir hastal\u0131kt\u0131r. Sa\u011fl\u0131kl\u0131 ki\u015filerde kompleman sistemi her daim aktif durumda olup bu sistem belirli mekanizmalarla kontrol alt\u0131nda tutulmaktad\u0131r. aH\u00dcS\u2019te genetik kusur nedeniyle, kontrol mekanizmas\u0131n\u0131n bozulmas\u0131, ve buna ba\u011fl\u0131 olarak kompleman sisteminin a\u015f\u0131r\u0131 aktif hale gelmesi sonucunda v\u00fccudun kendi dokular\u0131na ve organlar\u0131na zarar vermeye ba\u015flamas\u0131 klinik belirtilere neden olur. aH\u00dcS, her ya\u015f grubunda g\u00f6r\u00fclebilen, t\u00fcm v\u00fccut sistemlerini etkileyen , farkl\u0131 klinik belirtilere neden olan ve \u00f6l\u00fcmc\u00fcl olabilen bir hastal\u0131kt\u0131r. Hastalarda en \u00e7ok b\u00f6brek yetmezli\u011fi bulgular\u0131 g\u00f6r\u00fclmektedir. Ancak, bir\u00e7ok hasta \u00e7oklu organ yetmezli\u011fine ba\u011fl\u0131 farkl\u0131 belirtiler sergileyebilir.<\/p>\n\n\n\n

aH\u00dcS hastalar\u0131 \u00e7ok farkl\u0131 klinik semptomlar sergileyebilmektedir. \u00c7o\u011funlukla hastalar organ yetmezli\u011fi nedeni ile acil tedavi birimlerine ba\u015fvurduktan sonra yo\u011fun bak\u0131m \u015fartlar\u0131nda izlenmektedir. B\u00f6brek yetmezli\u011fi, kalp yetmezli\u011fi, g\u00f6rme kayb\u0131, sindirim sistemi kanamas\u0131, solunum sistemi yetmezlikleri ve n\u00f6rolojik ataklar g\u00f6r\u00fclebilmektedir.<\/p>\n\n\n\n

aH\u00dcS genetik bir hastal\u0131k ancak tek ba\u015f\u0131na bu gen mutasyonuna sahip olmak aH\u00dcS geli\u015fimi i\u00e7in yeterli bir fakt\u00f6r m\u00fc?<\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> aH\u00dcS hastalar\u0131n\u0131n yakla\u015f\u0131k y\u00fczde 60\u2019\u0131nda kompleman d\u00fczenleyici proteinleri kodlayan genlerde mutasyon saptanm\u0131\u015ft\u0131r. Ancak mutasyon taramas\u0131 yap\u0131lmas\u0131na ra\u011fmen tan\u0131mlanm\u0131\u015f genetik mutasyon bulunmayan ama klinik olarak aH\u00dcS ile uyumlu olan hastalar mevcuttur.     <\/p>\n\n\n\n

\u015eu an var olan tedavi se\u00e7enekleri neler? Tedavideki yeni se\u00e7enek hasta ya\u015fam\u0131na nas\u0131l katk\u0131 sa\u011flad\u0131?<\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> aH\u00dcS hastalar\u0131nda erken tan\u0131 ve tedavi organ fonksiyonlar\u0131n\u0131 korumaya y\u00f6nelik hayat kurtar\u0131c\u0131 yakla\u015f\u0131m olarak kabul edilmektedir. Ay\u0131r\u0131c\u0131 tan\u0131 ile ilerlenen klinik y\u00f6netimde hastan\u0131n tan\u0131s\u0131 kesinle\u015finceye kadar destek tedavileri uygulanabilmektedir. Ancak aH\u00dcS tan\u0131s\u0131 kesinle\u015fen hastalarda hayat kurtar\u0131c\u0131 tedavi se\u00e7ene\u011fi olarak kompleman sistemini bask\u0131layan tedaviler d\u00fcnyada ve \u00fclkemizde bilim otoriteleri taraf\u0131ndan kabul edilmi\u015f tedavi se\u00e7enekleridir.<\/p>\n\n\n\n

Hem PNH hem de aH\u00dcS hastalar\u0131 ve yak\u0131nlar\u0131 nelere dikkat etmeli?<\/strong><\/p>\n\n\n\n

Medikal Direkt\u00f6r Dr. O\u011fuz Y\u0131lmazer:<\/strong> Nadir hastal\u0131klara sahip olanlar ve onlar\u0131n yak\u0131nlar\u0131 ya da aileleri kendilerini sosyal anlamda yaln\u0131z hissetmemek i\u00e7in \u00f6zellikle bu alanda faaliyet g\u00f6steren hasta dernekleri varsa bunu ara\u015ft\u0131rmal\u0131, kendilerini takip eden hekimlerden bu konuda faaliyet varsa \u00f6\u011frenmeliler. Bu hastal\u0131\u011f\u0131n belirti ve bulgular\u0131 ile ilgili gerekli e\u011fitimleri, onlar\u0131 takip eden hekimlerden alarak fark\u0131ndal\u0131klar\u0131n\u0131 art\u0131rmal\u0131lar. Hastal\u0131\u011f\u0131n olu\u015fabilecek komplikasyonlar\u0131 ile ilgili uyan\u0131k olmal\u0131lar. \u00d6zellikle hastal\u0131\u011f\u0131n takibi ve uygulanan tedaviler gibi konularda s\u00fcrekli kendilerini takip eden hekimle i\u015f birli\u011fi i\u00e7inde olman\u0131n \u00e7ok \u00f6nemli oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyorum. \u00c7ocuk hastalar\u0131n ailelerine bu konuda daha fazla sorumluluk d\u00fc\u015fmektedir.  Ancak her ya\u015f gurubundan olan aH\u00dcS ve PNH hastalar\u0131 d\u00fczenli takip ve tedavi sayesinde normal sa\u011fl\u0131kl\u0131 bireyler gibi ya\u015famlar\u0131na rahatl\u0131kla devam edebilmektedirler.                                        <\/p>\n\n\n\n

Eklemek istedikleriniz\u2026<\/strong><\/p>\n\n\n\n

Genel M\u00fcd\u00fcr <\/strong>Derya K\u00f6ker:<\/strong> T\u00fcrkiye\u2019de son y\u0131llarda nadir hastal\u0131klar\u0131n tan\u0131 ve tedavisi i\u00e7in \u00e7ok olumlu ad\u0131mlar at\u0131ld\u0131, gerekli kurumsal altyap\u0131lar olu\u015fturuldu ve \u00f6ncelikler belirlendi. T\u00fcm payda\u015flar\u0131n ortak ak\u0131lla \u00e7al\u0131\u015fmas\u0131n\u0131n ve aksiyona ge\u00e7mesinin \u00e7ok de\u011ferli oldu\u011funu d\u00fc\u015f\u00fcn\u00fcyoruz. Biz de Alexion, AstraZeneca Nadir Hastal\u0131klar ekibi olarak, nadir hastal\u0131klardan muzdarip olan hastalar\u0131n hayat\u0131n\u0131 iyi y\u00f6nde d\u00f6n\u00fc\u015ft\u00fcrmek i\u00e7in \u00fczerimize d\u00fc\u015fecek g\u00f6revlere katk\u0131 sa\u011flamaya, insan sa\u011fl\u0131\u011f\u0131 ad\u0131na her ge\u00e7en g\u00fcn daha fazlas\u0131n\u0131 yapmaya daima haz\u0131r\u0131z. <\/p>\n\n\n\n

Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye, \u00f6ncelikli olarak hastalara hizmet etmeyi her zaman en \u00f6n plana alm\u0131\u015f \u015fekilde \u00e7al\u0131\u015fmalar\u0131na devam etmektedir. Bizim i\u00e7in her yeni ba\u015flayan g\u00fcn \u201chastalar\u0131n ya\u015fam\u0131 i\u00e7in neler yapabiliriz\u201d d\u00fc\u015f\u00fcncesini ilke edinerek ba\u015flar. Bug\u00fcne kadar oldu\u011fu gibi bundan sonra da Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye medikal direkt\u00f6rl\u00fc\u011f\u00fc olarak, bu bak\u0131\u015f a\u00e7\u0131s\u0131n\u0131 \u00f6n planda tutacak \u015fekilde \u00e7al\u0131\u015fmalar\u0131m\u0131za devam etmeyi arzu ediyoruz. <\/p>\n\n\n\n

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Referanslar: <\/strong><\/p>\n\n\n\n

1<\/sup> https:\/\/rare-x.org\/wp-content\/uploads\/2022\/05\/be-counted-052722-WEB.pdf<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

2<\/sup>https:\/\/health.ec.europa.eu\/non-communicable-diseases\/steering-group\/rare-diseases_en<\/a>; https:\/\/www.aifd.org.tr\/en\/haberler\/february-28-rare-disease-day\/<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

3<\/sup> de Vrueh R BE, de Haan JMH,. Priority Medicines for Europe and the World \u201cA Public Health Approach to Innovation\u201d Background Paper 6.19 Rare Diseases., 2013; Global Genes. RARE Facts 2019. Available from:\u202f https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8201697\/<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

4<\/sup>https:\/\/rarediseases.org\/wp-content\/uploads\/2020\/11\/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

5<\/sup>https:\/\/genomemedicine.biomedcentral.com\/articles\/10.1186\/s13073-022-01026-w<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

6<\/sup>T.G.N.A. Parliamentary Research Commission Report. March 2020 Available from: https:\/\/www.aifd.org.tr\/en\/haberler\/february-28-rare-disease-day\/<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

7<\/sup>T.G.N.A. Parliamentary Research Commission Report. March 2020 Available from: https:\/\/www.aifd.org.tr\/en\/haberler\/february-28-rare-disease-day\/<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

8<\/sup>https:\/\/ec.europa.eu\/research-and-innovation\/en\/horizon-magazine\/building-blocks-make-rare-disease-treatments-more-common<\/a> (Eri\u015fim Tarihi: 20.12.2022) <\/p>\n\n\n\n

9<\/sup>Morag G., Therapeutic advances in hematology vol. 8,3 (2017): 119-126.<\/p>\n\n\n\n

TR\/NP\/0035<\/p>\n","protected":false},"excerpt":{"rendered":"

Alexion T\u00fcrkiye Hematoloji & Nefroloji Ekibi Nadir hastal\u0131klar alan\u0131nda d\u00fcnyada 30 y\u0131ldan fazla s\u00fcredir, T\u00fcrkiye’de ise 2010 y\u0131l\u0131ndan beri hizmet veren Alexion, AstraZeneca Nadir Hastal\u0131klar Ekibi ile PNH ve aH\u00dcS hastal\u0131klar\u0131n\u0131 ve bu alanda ne gibi \u00e7al\u0131\u015fmalar yapt\u0131klar\u0131n\u0131 konu\u015ftuk. Alexion, AstraZeneca nadir hastal\u0131klar ekibi olarak sizleri biraz tan\u0131yabilir miyiz? Alexion, AstraZeneca Nadir Hastal\u0131klar T\u00fcrkiye Genel …<\/p>\n","protected":false},"author":1,"featured_media":2296,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[48,2],"tags":[],"_links":{"self":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/2318"}],"collection":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2318"}],"version-history":[{"count":7,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/2318\/revisions"}],"predecessor-version":[{"id":2328,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/posts\/2318\/revisions\/2328"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=\/wp\/v2\/media\/2296"}],"wp:attachment":[{"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2318"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=2318"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pharmaworlddergi.com\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=2318"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}