{"id":12561,"date":"2022-08-31T12:17:14","date_gmt":"2022-08-31T09:17:14","guid":{"rendered":"http:\/\/blog.ulubat.org\/?p=12561"},"modified":"2022-08-31T12:17:17","modified_gmt":"2022-08-31T09:17:17","slug":"fil-adam-ve-proteus-sendromu","status":"publish","type":"post","link":"https:\/\/blog.ulubat.org\/index.php\/genel\/fil-adam-ve-proteus-sendromu\/","title":{"rendered":"F\u0130L ADAM VE PROTEUS SENDROMU"},"content":{"rendered":"\n

Bir insan\u0131n do\u011fumdan itibaren b\u00fcy\u00fcmesi , bu b\u00fcy\u00fcme baz\u0131 ya\u015f ve ki\u015filik \u00f6zelli\u011fine g\u00f6re h\u0131zlan\u0131p yava\u015flasa da, ola\u011fan bir \u015feydir. Hayat\u0131n her an\u0131nda fark edilemeyecek kadar k\u00fc\u00e7\u00fck de olsa devam eden bu de\u011fi\u015fim orant\u0131l\u0131 ve \u00e7o\u011funlukla simetriktir. Bu b\u00fcy\u00fcmenin asimetrik , orant\u0131s\u0131z ve a\u015f\u0131r\u0131 olmas\u0131 ise Proteus sendromunun karakteristik \u00f6zelli\u011fidir. Proteus sendromundan etkilenen bireylerde\u00a0\u00a0iskelet, kan damar\u0131 ve cilt malformasyonu g\u00f6r\u00fclmektedir. Bunun yan\u0131nda iyi ve k\u00f6t\u00fc huylu t\u00fcm\u00f6r,\u00a0pulmoner emboli ve serebriform ba\u011f dokusu nev\u00fcs\u00fc olarak bilinen kal\u0131n, kabar\u0131k ve derin oluklu lezyonlara neden olabilir. Bu yan etkilerden dolay\u0131 me\u015fhur olan ve Proteus sendromunun belki de en \u00fcnl\u00fc vakas\u0131 Joseph Merrick nam\u0131 di\u011fer Fil Adam\u2019d\u0131r. Hastal\u0131\u011f\u0131 hem \u00fcn\u00fc hem de \u00f6l\u00fcm\u00fc getiren Joseph Merrick\u2019in dikkatlice kay\u0131t edilmi\u015f hayat\u0131 Proteus sendromunun geli\u015fimini ve zorluklar\u0131n\u0131 insanl\u0131\u011fa g\u00f6steren bir belge niteli\u011fi kazanm\u0131\u015ft\u0131r.<\/p>\n\n\n

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Joseph Merrick ve Hikayesi<\/h2>\n\n\n\n

\u00c7ocuklu\u011fu ve Hastal\u0131\u011f\u0131n Ba\u015flang\u0131c\u0131<\/h3>\n\n\n\n

5 A\u011fustos 1862’de sa\u011fl\u0131kl\u0131 bir \u015fekilde d\u00fcnyaya gelen Joseph 5 ya\u015f\u0131na kadar normal bir \u00e7ocukluk ge\u00e7irdi ,5 ya\u015f\u0131na geldi\u011finde ise annesinin, hamileli\u011fi s\u0131ras\u0131nda bir fil taraf\u0131ndan korkutulmas\u0131na atfetti\u011fi, p\u00fct\u00fcrl\u00fc, grimsi cilt lekeleri geli\u015ftirdi. Bu lekelerin yan\u0131 s\u0131ra v\u00fccudunda t\u00fcm\u00f6r olu\u015fumlar\u0131 devam etmesine nispeten normal bir \u00e7ocukluk ge\u00e7irdi ve okula gitti. Okuldan ayr\u0131l\u0131p i\u015f hayat\u0131na at\u0131lmas\u0131 gerekti\u011finde ise i\u015fe ba\u015flamas\u0131ndan k\u0131sa bir s\u00fcre sonra sa\u011f el bile\u011fi \u00e7ap\u0131n\u0131n 30 cm olmas\u0131ndan dolay\u0131 i\u015fi yapamamaya ba\u015flad\u0131. Farkl\u0131 bir i\u015fte ikamet etmesi de artan deformasyonlar\u0131 y\u00fcz\u00fcnden konu\u015famamas\u0131 ve farkl\u0131 g\u00f6r\u00fcnt\u00fcs\u00fc y\u00fcz\u00fcnden k\u0131sa s\u00fcrd\u00fc.<\/p>\n\n\n\n

Fil Adam\u2019\u0131n Ke\u015ffi<\/h3>\n\n\n\n

1884\u2019te deformasyonlar\u0131ndan yararlanmak isteyen Joseph Merrick tuhaf insanlar g\u00f6sterisinde \u2018Yar\u0131 Fil ,Yar\u0131 Adam \u0130\u015fte F\u0130L ADAM !\u2019\u2019slogan\u0131 ile sergilenmeye Londra\u2019ya gitti. G\u00f6sterinin kar\u015f\u0131s\u0131nda bulunan hastaneye Dr.\u00a0Frederick Treves taraf\u0131ndan muayene edilmeye davet edildi\u011fi zaman ise\u00a0\u00a0deformitelerin a\u015f\u0131r\u0131 hale geldi\u011fi tespit edildi. Ba\u015f\u0131n\u0131n \u00e7evresi yakla\u015f\u0131k 1 metre \u00f6l\u00e7\u00fclen Joseph ayn\u0131 zamanda kal\u00e7as\u0131ndaki deformasyon y\u00fcz\u00fcnden y\u00fcr\u00fcrken bastona ihtiya\u00e7 duyuyordu. Verileri Londra Patoloji Derne\u011fi’ne sunulan Merrick daha fazla incelenme teklifini kendini \u201cs\u0131\u011f\u0131r pazar\u0131ndaki bir hayvan\u201d \u015feklinde hissettirdi\u011finden dolay\u0131 reddetti.\u00a0Merrick’in muzdarip oldu\u011fu bozuklu\u011fun uzun zamand\u0131r son derece \u015fiddetli bir n\u00f6rofibromatoz vakas\u0131 oldu\u011fu d\u00fc\u015f\u00fcncesi sonradan Proteus sendromu te\u015fhisi ile de\u011fi\u015ftirildi.<\/p>\n\n\n

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\"\"<\/figure><\/div>\n\n\n

Hastane Yuvas\u0131<\/h3>\n\n\n\n

Menajeri taraf\u0131ndan doland\u0131r\u0131l\u0131p terk edildikten sonra tekrar yolu hastaneye d\u00fc\u015fen Merrick\u2019in artan deformasyonu y\u00fcz\u00fcnden yard\u0131ma ihtiyac\u0131 oldu\u011funa karar k\u0131l\u0131nd\u0131 fakat hastanenin \u2018tedavi edilemezlere \u2018bakamayaca\u011f\u0131 belirtildi. \u00c7\u00f6z\u00fcm olarak Londra Hastanesi ba\u015fkan\u0131 Carr Gromm The Times\u2019da Merrick’in durumunu anlatan ve yard\u0131m isteyen bir yaz\u0131 yay\u0131mlad\u0131. Yaz\u0131ya d\u00f6n\u00fct olarak\u00a0aktris Madge Kendal ve Galler Prensesi Alexandra\u2019n\u0131n da dahil oldu\u011fu bir grup\u00a0\u00a0Merrick\u2019e hayat\u0131n\u0131n geri kalan\u0131n\u0131 ya\u015fayabilece\u011fi bir yuva i\u00e7in yeterli paray\u0131 temin etti.<\/p>\n\n\n\n

D\u00fcnyaya Vedas\u0131<\/h3>\n\n\n\n

11 Nisan 1890\u2019da d\u00fcnyaya g\u00f6zlerini yuman Merrik yatakta s\u0131rt\u00fcst\u00fc yatar\u00a0\u00a0vaziyette bulundu. Ba\u015f\u0131n\u0131n b\u00fcy\u00fckl\u00fc\u011f\u00fc nedeniyle ba\u015f\u0131 dizlerine dayanacak \u015fekilde oturarak uyuyan Merrick\u2019in\u00a0\u00a0ba\u015flang\u0131\u00e7ta nefes borusunu ezdi\u011fi i\u00e7in bo\u011fularak \u00f6ld\u00fc\u011f\u00fc d\u00fc\u015f\u00fcn\u00fcl\u00fcyordu fakat\u00a0\u00a0ilerleyen zamanlarda yata\u011fa uzanmas\u0131ndan dolay\u0131 ezilmi\u015f veya kopmu\u015f bir omurilikten \u00f6ld\u00fc\u011f\u00fc kanaatine var\u0131ld\u0131. Vefat\u0131ndan sonra iskeleti Londra Hastanesi sergisinde yer ald\u0131. Hastal\u0131\u011f\u0131n\u0131n nedeni ilk ba\u015fta fil hastal\u0131\u011f\u0131(elephantiasis) san\u0131lsa da modern zamanda Poteus Sendromu oldu\u011fu kan\u0131s\u0131na var\u0131ld\u0131.<\/p>\n\n\n

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\"\"<\/figure><\/div>\n\n\n

Proteus Sendromu<\/h2>\n\n\n\n

Genetik Altyap\u0131s\u0131<\/h3>\n\n\n\n

Proteus sendromu, AKT1 genindeki bir mutasyondan kaynaklan\u0131r. AKT1 geni, h\u00fccre b\u00fcy\u00fcmesini ,b\u00f6l\u00fcnmesini ve h\u00fccre \u00f6l\u00fcm\u00fcn\u00fc d\u00fczenlemeye yard\u0131mc\u0131 olur. Bu gendeki bir mutasyon, bir h\u00fccrenin kendi b\u00fcy\u00fcmesini d\u00fczenleme yetene\u011fini bozar ve anormal \u015fekilde b\u00fcy\u00fcmesine ve b\u00f6l\u00fcnmesine izin verir. Bu a\u015f\u0131r\u0131 b\u00fcy\u00fcmenin belirginle\u015fmesi 6 ila 18 ay aras\u0131nda fark edilir ve ya\u015fla birlikte \u015fiddetlenir.  Baz\u0131 yay\u0131nlanm\u0131\u015f \u00e7al\u0131\u015fmalarda PTEN adl\u0131 bir gendeki mutasyonlar Proteus sendromu ile ili\u015fkilendirilmesine ra\u011fmen baz\u0131 ara\u015ft\u0131rmac\u0131lar PTEN gen mutasyonuna sahip \u00e7o\u011fu insan\u0131n \u201cPTEN Hamartom T\u00fcm\u00f6r Sendromu\u201d  ad\u0131 verilen daha b\u00fcy\u00fck bir hastal\u0131k grubunun par\u00e7as\u0131 olarak kabul etmektedir.<\/p>\n\n\n\n

Bu mutasyon somatik mutasyon olarak adland\u0131r\u0131l\u0131r ve do\u011fumdan \u00f6nce geli\u015fimin erken evrelerinde bir h\u00fccrede rastgele ortaya \u00e7\u0131kar. Ki\u015finin kendi v\u00fccut  h\u00fccrelerinde ger\u00e7ekle\u015fen bir mutasyon oldu\u011fu i\u00e7in  ebeveynlerden kal\u0131t\u0131lamaz ve bir sonraki jenerasyona verilemez.<\/p>\n\n\n\n

Etkilenen ki\u015filerin semptomlar\u0131n\u0131n  de\u011fi\u015fkenli\u011fi k\u0131smen sa\u011fl\u0131kl\u0131 h\u00fccrelerin anormal h\u00fccrelere oran\u0131na ba\u011fl\u0131d\u0131r, buna \u201cmozaiklik\u201d denir. T\u00fcm h\u00fccreler anormal gene sahip oldu\u011funda ise durum ya\u015famla uyumlu de\u011fildir .<\/p>\n\n\n\n

Toplumda G\u00f6r\u00fclme S\u0131kl\u0131\u011f\u0131<\/h3>\n\n\n\n

Proteus sendromu olduk\u00e7a nadir g\u00f6r\u00fclen bir hastal\u0131kt\u0131r.\u00a0T\u0131p literat\u00fcr\u00fcnde yakla\u015f\u0131k 200 hasta kayda ge\u00e7mi\u015ftir ve t\u00fcm \u0131rksal gruplardan insanlar\u0131 etkiledi\u011fi g\u00f6r\u00fclmesinin yan\u0131 s\u0131ra erkekleri kad\u0131nlardan biraz daha s\u0131k etkiledi\u011fi saptanm\u0131\u015ft\u0131r.\u00a0Proteus sendromunun te\u015fhisi \u00e7ok zor oldu\u011fu i\u00e7in bazen asimetrik b\u00fcy\u00fcmeden kaynaklanan semptomlar\u0131 Proteus sanarak yanl\u0131\u015f te\u015fhis konmakta, baz\u0131 insanlar ise te\u015fhis edilememektedir.<\/p>\n\n\n\n

Te\u015fhis S\u00fcreci<\/h3>\n\n\n\n

Proteus sendromunun te\u015fhisi, yay\u0131nlanm\u0131\u015f klinik tan\u0131 kriterleri ve molek\u00fcler testler kullan\u0131larak yap\u0131lmaktad\u0131r .AKT1\u2019deki gen varyant\u0131n\u0131n te\u015fhisini zorla\u015ft\u0131ran neden gen de\u011fi\u015fikli\u011finin nadiren kanda olu\u015fmas\u0131 ve testin \u00e7al\u0131\u015fmas\u0131 i\u00e7in doku biyopsisin  gereklili\u011fidir. <\/p>\n\n\n\n

Te\u015fhiste kullan\u0131labilecek di\u011fer tan\u0131 teknikleri aras\u0131nda kafatas\u0131 lezyonlar\u0131 i\u00e7in bilgisayarl\u0131 tomografi (BT) taramalar\u0131, akci\u011fer kistleri i\u00e7in akci\u011ferlerin y\u00fcksek \u00e7\u00f6z\u00fcn\u00fcrl\u00fckl\u00fc BT taramas\u0131, beyin, kar\u0131n, pelvis ve uzuvlar i\u00e7in manyetik rezonans g\u00f6r\u00fcnt\u00fclemesi (MRI), skrotal veya yumurtal\u0131k kitlelerini ve derin ven trombozlar\u0131n\u0131 de\u011ferlendirmek i\u00e7in ultrason bulunmaktad\u0131r.<\/p>\n\n\n\n

Gelece Bak\u0131\u015f<\/h3>\n\n\n\n

Proteus sendromunun \u015fu an spesifik bir tedavisi yoktur. Semptomlar\u0131 hafifletmek i\u00e7in profilaktik ve semptomatik bir yakla\u015f\u0131m gerekmekte bunun i\u00e7in ortopedist, kraniyofasiyal cerrah, plastik cerrah, dermatolog, di\u015f hekimi, beyin cerrah\u0131, genetik\u00e7i ve psikolo\u011fu i\u00e7eren bir multidisipliner ekip gerekmektedir. Bu \u015fekildeki multidisipliner yakla\u015f\u0131m ve gen baz\u0131ndaki ke\u015fifler bu hastal\u0131\u011f\u0131n anla\u015f\u0131lmas\u0131nda ve tedavisinde \u00f6nemli bir rol oynamaktad\u0131r.<\/p>\n\n\n\n

Kaynaklar<\/h2>\n\n\n\n

https:\/\/www.nature.com\/articles\/5201638<\/a><\/p>\n\n\n\n

https:\/\/rarediseases.org\/rare-diseases\/proteus-syndrome\/<\/a><\/p>\n\n\n\n

https:\/\/www.nature.com\/articles\/3880510<\/a><\/p>\n\n\n\n

https:\/\/medlineplus.gov\/genetics\/condition\/proteus-syndrome\/<\/a><\/p>\n\n\n\n

https:\/\/www.britannica.com\/biography\/Elephant-Man<\/a><\/p>\n\n\n\n

https:\/\/www.biography.com\/performer\/elephant-man-joseph-merrick<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

Bir insan\u0131n do\u011fumdan itibaren b\u00fcy\u00fcmesi , bu b\u00fcy\u00fcme baz\u0131 ya\u015f ve ki\u015filik \u00f6zelli\u011fine g\u00f6re h\u0131zlan\u0131p yava\u015flasa da, ola\u011fan bir \u015feydir.<\/p>\n","protected":false},"author":1114,"featured_media":12562,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[2174,1,2173],"tags":[73,2330,149,115,2329,2331,265,2332,66],"acf":[],"views":714,"_links":{"self":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12561"}],"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\/1114"}],"replies":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/comments?post=12561"}],"version-history":[{"count":1,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12561\/revisions"}],"predecessor-version":[{"id":12563,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/posts\/12561\/revisions\/12563"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media\/12562"}],"wp:attachment":[{"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/media?parent=12561"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/categories?post=12561"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blog.ulubat.org\/index.php\/wp-json\/wp\/v2\/tags?post=12561"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}