1997 y\u0131l\u0131nda kurulan Avrupa Nadir Hastal\u0131klar \u00d6rg\u00fct\u00fc (European Organization on for Rare Diseases-EURORDIS) taraf\u0131ndan konuya ili\u015fkin fark\u0131ndal\u0131k yaratmak i\u00e7in 2008’den itibaren her y\u0131l \u015fubat ay\u0131n\u0131n son g\u00fcn\u00fc “D\u00fcnya Nadir Hastal\u0131klar G\u00fcn\u00fc” olarak kutlan\u0131yor.<\/p>\n
Avrupa Nadir Hastal\u0131klar \u00d6rg\u00fct\u00fc’nden yap\u0131lan a\u00e7\u0131klamaya g\u00f6re ki\u015fiden ki\u015fiye semptomlar\u0131 de\u011fi\u015fen nadir hastal\u0131klar, d\u00fcnya genelinde 300 milyondan fazla insan\u0131 etkiliyor.<\/p>\n
Nadir hastal\u0131klar\u0131n y\u00fczde 70’i \u00e7ocuklarda g\u00f6r\u00fcl\u00fcyor.<\/p>\n
D\u00fcnya n\u00fcfusunun yaln\u0131zca y\u00fczde 5’ini etkileyen nadir hastal\u0131klar\u0131n te\u015fhisinin zor olmas\u0131 ve tan\u0131 s\u00fcresinin yakla\u015f\u0131k 5-7 y\u0131l s\u00fcrmesinden dolay\u0131 bir\u00e7ok hasta tedaviden mahrum kal\u0131yor.<\/p>\n
Bu hastal\u0131klar\u0131n nadir g\u00f6r\u00fclmesi nedeniyle konuya ili\u015fkin yeterli ara\u015ft\u0131rman\u0131n da olmad\u0131\u011f\u0131 kaydediliyor.<\/p>\n
Halihaz\u0131rda d\u00fcnya genelinde tespit edilen 6 binden fazla nadir hastal\u0131k bulunuyor. Avrupa Birli\u011fi’ne (AB) g\u00f6re bir hastal\u0131\u011f\u0131n nadir say\u0131labilmesi i\u00e7in 2 binde 1 ki\u015finin etkilenmesi gerekiyor.<\/p>\n
Nadir hastal\u0131klar\u0131n y\u00fczde 72’si genetik yolla aktar\u0131l\u0131rken geri kalan\u0131 \u00e7evre, enfeksiyon ya da alerji nedeniyle ortaya \u00e7\u0131kabiliyor.<\/p>\n
Nadir hastal\u0131kla do\u011fan \u00e7ocuklar\u0131n y\u00fczde 30’u 5 ya\u015f\u0131na gelmeden hayat\u0131n\u0131 kaybediyor.<\/p>\n
Bug\u00fcne kadar kay\u0131t alt\u0131na al\u0131nm\u0131\u015f ve en \u00e7ok nadir hastal\u0131k vakas\u0131 g\u00f6r\u00fclen \u00fclkeler aras\u0131nda ilk s\u0131rada yakla\u015f\u0131k 30 milyon hastayla ABD yer al\u0131yor. Bu \u00fclkeyi ise \u00c7in, 20 milyonla takip ediyor.<\/p>\n
Avrupa genelinde ise 36 milyon insan nadir hastal\u0131klarla m\u00fccadele ediyor.<\/p>\n
D\u00fcnya \u00e7ap\u0131nda g\u00f6r\u00fclen baz\u0131 nadir hastal\u0131klar<\/h3>\n
Nadir g\u00f6r\u00fclen hastal\u0131klardan biri olan “Ta\u015f Adam Sendromu”nda v\u00fccuttaki kaslar, tendonlar ve ba\u011f dokular\u0131 zamanla kemikle\u015fiyor.<\/p>\n
T\u0131p dilinde “Fibrodysplasia ossificans progressive (FOP)” ismiyle bilinen bu hastal\u0131k, d\u00fcnyada yaln\u0131zca 2 milyonda 1 ki\u015fide g\u00f6r\u00fcl\u00fcrken hen\u00fcz tedavisi bulunmuyor. <\/p>\n
Genetik bir hastal\u0131k olan ve halk aras\u0131nda “erken ya\u015flanma sendromu” diye de bilinen “Hutchinson-Gilford Progeria Sendromu (HGPS)” ise d\u00fcnyada yaln\u0131zca 4 milyonda 1 ki\u015fide g\u00f6r\u00fcl\u00fcyor. <\/p>\n
Bu sendromda hastalar, do\u011fumda normal g\u00f6z\u00fck\u00fcrken ya\u015famlar\u0131n\u0131n ilk y\u0131llar\u0131nda b\u00fcy\u00fcmeleri h\u0131zla yava\u015fl\u0131yor ve k\u00fc\u00e7\u00fck ya\u015flardayken ya\u015fl\u0131 bir insan g\u00f6r\u00fcn\u00fcm\u00fcne sahip oluyor. <\/p>\n
Ba\u015fka bir nadir hastal\u0131k da t\u0131pta “osteogenesiz imperfakta” olarak ge\u00e7en, halk aras\u0131ndaki ad\u0131yla “cam kemik hastal\u0131\u011f\u0131”.<\/p>\n
“Cam kemik hastal\u0131\u011f\u0131”, ismini hastalar\u0131n kemiklerinin cam gibi kolay ve s\u0131k k\u0131r\u0131lmas\u0131ndan al\u0131yor. Kal\u0131tsal yolla aktar\u0131lan bu hastal\u0131k, d\u00fcnyada yaln\u0131zca her 100 bin ki\u015fiden 6-7’sinde g\u00f6r\u00fcl\u00fcyor.<\/p>\n
Bu hastal\u0131k, kemik ba\u011f dokular\u0131n\u0131n temel maddesi kolajenin hatal\u0131 ya da yetersiz \u00fcretilmesi nedeniyle ortaya \u00e7\u0131k\u0131yor.<\/p>\n
Hastal\u0131\u011f\u0131n tedavisinde kullan\u0131lan gen tedavisi ve b\u00fcy\u00fcme hormonu ile ilgili \u00e7al\u0131\u015fmalar devam ediyor.<\/p>\n
“Cotard Sendrom”lu hastalar kendilerini “\u00f6l\u00fcym\u00fc\u015f gibi hissediyor”<\/h3>\n
Bug\u00fcne kadar yaln\u0131zca 200 ki\u015fide tespit edilen ba\u015fka bir nadir hastal\u0131k ise “y\u00fcr\u00fcyen ceset sendromu” olarak da bilinen “Cotard Sendromu”.<\/p>\n
\u0130lk olarak 1882’de Frans\u0131z n\u00f6rolog Dr. Jules Cotard taraf\u0131ndan tan\u0131mlanan bu rahats\u0131zl\u0131k, depresyonla ili\u015fkili n\u00f6ropsikiyatrik bozukluk olarak biliniyor.<\/p>\n
Bu hastal\u0131\u011fa sahip ki\u015filer, v\u00fccut uzuvlar\u0131n\u0131n eksik oldu\u011funa, kan dola\u015f\u0131m\u0131n\u0131n olmad\u0131\u011f\u0131na ya da \u00f6lmek \u00fczere oldu\u011funa inan\u0131yor.<\/p>\n
Hastal\u0131kta ilk olarak ila\u00e7 tedavisi ve terapi uygulan\u0131rken i\u015fe yaramad\u0131\u011f\u0131 durumlarda ise son \u00e7are olarak elektrokonv\u00fclsif (EKT) veya elektro\u015fok tedavisine ba\u015fvuruluyor.<\/p>\n
Hidrosefali 500 ki\u015fide 1 g\u00f6r\u00fcl\u00fcyor<\/h3>\n
Kal\u0131tsal yolla aktar\u0131lan ya da hamilelik s\u0131ras\u0131nda olu\u015fabilen “hidrosefali” hastal\u0131\u011f\u0131, yakla\u015f\u0131k 500 ki\u015fide 1 g\u00f6r\u00fcl\u00fcyor. Bu hastal\u0131k, beyni korumas\u0131 gereken s\u0131v\u0131lar\u0131n, beyinde ve beynin \u00e7evresinde birikmesiyle ortaya \u00e7\u0131k\u0131yor.<\/p>\n
Bu s\u0131v\u0131lar, beyin h\u00fccrelerine besin iletme ve at\u0131klar\u0131 dokulardan uzakla\u015ft\u0131rmakla g\u00f6revli ancak hidrosefali hastal\u0131\u011f\u0131nda bu s\u0131v\u0131n\u0131n kan dola\u015f\u0131m\u0131 s\u0131ras\u0131nda emilmesinde s\u0131k\u0131nt\u0131 ya\u015fan\u0131yor, kan dola\u015f\u0131m\u0131 s\u0131ras\u0131nda emilemeyen s\u0131v\u0131lar birikerek kafatas\u0131n\u0131n b\u00fcy\u00fcmesine ve bas\u0131n\u00e7 art\u0131\u015f\u0131na sebep oluyor.<\/p>\n
Bu hastal\u0131kta tedavi olarak biriken s\u0131v\u0131n\u0131n bo\u015falt\u0131labilmesi i\u00e7in ameliyatla hastan\u0131n kafas\u0131na uzun ve elastik boru \u015feklinde bir sistem yerle\u015ftiriliyor.<\/p>\n
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