Fanconi anemisi; g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 milyonda 1-5 olan, kansere yatk\u0131nl\u0131k, kemik ili\u011fi yetmezli\u011fi, \u00e7e\u015fitli
konjenital anomaliler ve \u00e7apraz ba\u011flay\u0131c\u0131 ajanlara duyarl\u0131l\u0131kla karakterizasyon g\u00f6steren nadir bir
hastal\u0131kt\u0131r.
Bu hastal\u0131\u011f\u0131 ilk olarak 1927 y\u0131l\u0131nda \u0130sve\u00e7li pediatrist Guido Fanconi tan\u0131mlam\u0131\u015ft\u0131r.
Fanconi\u2019nin belirledi\u011fi tan\u0131 kriterleri pansitopeni, hiperpigmentasyon, iskelet sistemi anomalileri ve
\u00fcrogenital sistem anomalileridir.
\u015eimdiki bulgular da bunlara ek olarak Radius ve ba\u015f parmak anomalisi, cilt bulgular\u0131, kardiyovask\u00fcler
ve gastrointestinal sistem anomalileri, mikrosefali ve boy k\u0131sal\u0131\u011f\u0131 gibi bulgulard\u0131r.
Fanconi anemisi otozomal resesif kal\u0131t\u0131m g\u00f6stermektedir. Prevalans\u0131 \u00e7e\u015fitli \u0131rklarda de\u011fi\u015fiklik
g\u00f6stermektedir. En y\u00fcksek prevalansa sahip \u0131rk 1\/70 ta\u015f\u0131y\u0131c\u0131l\u0131k oran\u0131yla \u0130spanyol \u00e7ingenelerdir.1\/83\u2019le
G\u00fcney Afrikal\u0131lar ,1\/89\u2019la Askenzi Yahudilerinde prevalans\u0131 y\u00fcksek di\u011fer topluluklard\u0131r. \u00dclkemizde
ta\u015f\u0131y\u0131c\u0131l\u0131k s\u0131kl\u0131\u011f\u0131 bilinmemektedir. (Kesici. 2011)<\/p>\n\n\n\n
G\u00fcn\u00fcm\u00fczde fanconi anemisine sebep olan 15 gen saptanm\u0131\u015ft\u0131r. Genler FANCA, FANCB, FANCC
\u015feklinde adland\u0131r\u0131lmaktad\u0131r. FANCL, FANCB, FANCM FANCA\u2019a ba\u011flanan proteinler olarak
tan\u0131mlanm\u0131\u015ft\u0131r.
Fanconi Anemisi hastalar\u0131nda g\u00f6r\u00fclen mutasyonlar\u0131n \u00e7o\u011fu FANCA genindedir
FANCC genindeki mutasyonlar\u0131n g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 d\u00fc\u015f\u00fckt\u00fcr (%10-15) fakat Askenzi Yahudileri
toplumunda bu oran %80\u2019e \u00e7\u0131kmaktad\u0131r.
<\/p>\n\n\n\n
Hastal\u0131\u011f\u0131n kesin tan\u0131s\u0131 FANC genlerindeki bialellik mutasyon g\u00f6r\u00fclmesiyle veya \u00e7apraz ba\u011flay\u0131c\u0131
ajanlara a\u015f\u0131r\u0131 duyarl\u0131l\u0131k \u00f6zelli\u011finden faydalan\u0131l\u0131r ve kromozom k\u0131r\u0131klar\u0131 g\u00f6r\u00fcl\u00fcr. Bu konuda en ba\u015far\u0131l\u0131
test MMC veya DEB kromozomal k\u0131r\u0131lma testleridir. \u0130lgili genlerin her iki kopyas\u0131nda da mutasyon
bulunmas\u0131yla kesin tan\u0131s\u0131 konur.<\/p>\n\n\n\n
Hematopoetik K\u00f6k H\u00fccre Nakli:<\/strong> Hb d\u00fczeyi 8 gr\/dl\u2019nin alt\u0131na, trombosit say\u0131s\u0131 ise 30000\/mm3 \u2019in alt\u0131nda oldu\u011fu zaman androjen Kesici, S. (2011). Fanconi anemisi hastalar\u0131n\u0131n de\u011ferlendirilmesi (Uzmanl\u0131k tezi, Hacettepe <\/p>\n","protected":false},"excerpt":{"rendered":" Fanconi anemisi; g\u00f6r\u00fclme s\u0131kl\u0131\u011f\u0131 milyonda 1-5 olan, kansere yatk\u0131nl\u0131k, kemik ili\u011fi yetmezli\u011fi, \u00e7e\u015fitlikonjenital anomaliler ve \u00e7apraz ba\u011flay\u0131c\u0131 ajanlara duyarl\u0131l\u0131kla karakterizasyon<\/p>\n","protected":false},"author":1220,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[2392,73,2391,2390,1214,265,84,66],"acf":[],"views":321,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12882"}],"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\/1220"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=12882"}],"version-history":[{"count":2,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12882\/revisions"}],"predecessor-version":[{"id":13022,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12882\/revisions\/13022"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=12882"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=12882"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=12882"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
Fanconi anemisi hastalar\u0131nda aplastik anemi, akut myeloid l\u00f6semi, sitopeni gibi kemik ili\u011fi fonksiyon
kayb\u0131 bulgular\u0131 g\u00f6r\u00fclmektedir. Bunlar kemik ili\u011fi yetmezli\u011fini g\u00f6stermektedir.
Kemik ili\u011fi yetmezli\u011fi i\u00e7in uygulanan tedavi hematopoetik k\u00f6k h\u00fccre naklidir. E\u011fer ilgili hematolojik
bulgular mevcutsa (aplastik anemi, AML vb.) k\u00f6k h\u00fccre nakli yap\u0131labilir. Hematolojik bulgusu olmayan
hastalarda ise nakil yap\u0131lmas\u0131 tart\u0131\u015fmal\u0131 ve risklidir.
Androjen Tedavisi:<\/strong>
Sitopeni bulgular\u0131 olan hastalarda uygulanmaktad\u0131r. Genelde kullan\u0131lan androjen oksimetolondur.
Androjenler eritosit, trombosit ve n\u00f6trofil say\u0131s\u0131n\u0131 y\u00fckseltmektedir.<\/p>\n\n\n\n
tedavisi ba\u015flamaktad\u0131r. \u00d6nce hemoglobin sonra trombosit say\u0131s\u0131 y\u00fckselmektedir.
Tabi androjen tedavisinin virilizasyon, hipertansiyon, karaci\u011fer enzimlerinin y\u00fckselmesi gibi olas\u0131 yan
etkileri vard\u0131r.
Transf\u00fczyon Tedavisi:<\/strong>
Genelde hastalarda eritrosit transf\u00fczyonu gerekmektedir. Semptom geli\u015fmedik\u00e7e transf\u00fczyon
yap\u0131lmas\u0131 \u00f6nerilmemektedir. Fazla transf\u00fczyon yap\u0131lmas\u0131 k\u00f6k h\u00fccre sonu\u00e7lar\u0131n\u0131 olumsuz
etkilemektedir.
Geli\u015fen semptomlara, e\u015flik eden di\u011fer problem ve hastal\u0131klara g\u00f6re tedaviler eklenmektedir.
(\u00d6rne\u011fin ba\u015f parmak ve Radius anomalisi, karaci\u011fer problemleri, endokrinolojik problemler vb.)<\/p>\n\n\n\nKAYNAK\u00c7A:<\/h2>\n\n\n\n
\u00dcniversitesi T\u0131p Fak\u00fcltesi)
https:\/\/acikbilim.yok.gov.tr\/bitstream\/handle\/20.500.12812\/430899\/yokAcikBilim_10335404.pdf?se
quence=-1&isAllowed=y
Balta, G. (2005) \u2018\u2019Fanconi anemisinin molek\u00fcler biyolojisi ve geneti\u011fi\u2019\u2019, Molek\u00fcler hematoloji ve
sitogenetik alt komitesi, temel molek\u00fcler hematoloji kursu, 12-13 Mart 2005, T\u00fcrk Hematoloji
Derne\u011fi, Mersin 2005
https:\/\/www.thd.org.tr\/thdData\/userfiles\/file\/gunaybalta.pdf<\/p>\n\n\n\n