Mukopolisakkaridozlar<\/strong> dermatan sulfat, heparan sulfat ve keratan sulfat katabolizmas\u0131nda g\u00f6revli enzimlerin eksikli\u011fi ile ortaya \u00e7\u0131kan geni\u015f bir hastal\u0131k grubudur. Bilinen 9 tipinden 4\u2019\u00fc SSS\u2019i et\u00ackileyerek mental retardasyona yol a\u00e7ar. Bunlar tip I,II,III ve VII\u2019dir. Tip I ve III s\u00fct \u00e7ocuklu\u011fu d\u00f6ne\u00acminde ba\u015flarken, II ve VII daha b\u00fcy\u00fck \u00e7ocuklarda be\u00aclirti verir. Tan\u0131lar\u0131 idrarda artm\u0131\u015f mukopolisakkarid d\u00fczeyi ve enzim eksikli\u011finin serum veya fibroblast k\u00fclt\u00fcr\u00fcnde g\u00f6sterilmesi ile konur . MPS Tip III (Sanfilippo sendromu<\/strong>) : OR ge\u00e7i\u015flidir. D\u00f6rt farkl\u0131 enzimin eksikli\u011fine ba\u011fl\u0131 olarak i\u00e7 organ\u00aclarda heparan sulfat birikimi olur. Hurler fenotipi g\u00f6\u00acr\u00fclmez, boy normaldir. Ancak hepatosplenomegali olabilir. Belirtiler ikinci ya\u015f\u0131n sonuna do\u011fru ilerleyici mental regresyonla ba\u015flar. Hiperaktivite ve uyku bo\u00aczukluklar\u0131 s\u0131kt\u0131r.<\/p>\n MPS Tip II (Hunter sendromu<\/strong>): Iduronat sulfataz enzim eksikli\u011fine ba\u011fl\u0131 olarak ortaya \u00e7\u0131kar. Di\u011fer MPS\u2019lardan farkl\u0131 olarak X\u2019e ba\u011fl\u0131 resesif olarak ge\u00e7i\u015f g\u00f6sterir. Belirtiler 2 ya\u015f\u0131ndan sonra ortaya \u00e7\u0131kar. Korneal bulan\u0131kl\u0131k olmaks\u0131z\u0131n Hurler fenotipi mev\u00accuttur. Ay\u0131rt edici bir \u00f6zelli\u011fi s\u0131rtta g\u00f6r\u00fclen nod\u00fcler lezyonlard\u0131r. Kronik hidrosefali g\u00f6r\u00fclebilir. Kollagen\u00f6z yap\u0131lar i\u00e7inde depolanmaya ba\u011fl\u0131 olarak periferik sinir\u00acler, \u00f6zellikle median ve ulnar sinirlerde tuzak n\u00f6ropatiler ortaya \u00e7\u0131kabilir.<\/p>\n MPS Tip VII (Sly hastal\u0131\u011f\u0131<\/strong>): OR ge\u00e7i\u015fli, \u00df-glukronidaz enzim eksikli\u011fine ba\u011fl\u0131 ortaya \u00e7\u0131kan bir hastal\u0131kt\u0131r. \u0130nkomplet Hurler fenotipi g\u00f6r\u00fcl\u00fcr. Hepato-splenomegali, inguinal herni ve dizostozis multipleks belirgin \u00f6zellikleridir. Buna kar\u015f\u0131n korneal opasite ve tipik y\u00fcz g\u00f6r\u00fcn\u00fcm\u00fc yoktur. Motor-mental retardasyonun ortaya \u00e7\u0131k\u0131\u015f\u0131 2 ya\u015f veya sonras\u0131nda olabilir.<\/p>","protected":false},"excerpt":{"rendered":" Mukopolisakkaridozlar (MPS) Mukopolisakkaridozlar dermatan sulfat, heparan sulfat ve keratan sulfat […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[224],"tags":[288,289,290,291,292,293],"class_list":["post-409","post","type-post","status-publish","format-standard","hentry","category-normal-disi-cocuklar","tag-hunter-sendromu","tag-mps","tag-mukopolisakkaridoz","tag-mukopolisakkaridozlar","tag-sanfilippo-sendromu","tag-sly-hastaligi"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/posts\/409","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/comments?post=409"}],"version-history":[{"count":1,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/posts\/409\/revisions"}],"predecessor-version":[{"id":10784,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/posts\/409\/revisions\/10784"}],"wp:attachment":[{"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/media?parent=409"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/categories?post=409"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/turanuslu.net\/es\/wp-json\/wp\/v2\/tags?post=409"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
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\nMPS Tip I (Hurler sendromu): ?-L-iduronidaz en\u00aczim eksikli\u011fine ba\u011fl\u0131, OR ge\u00e7i\u015fli bir hastal\u0131kt\u0131r. \u0130lk y\u0131l normal olarak geli\u015fen \u00e7ocukta ikinci ya\u015fta geli\u015fim \u00f6nce durur, sonra gerilemeye ba\u015flar. Hastal\u0131\u011f\u0131n dikkat \u00e7ekici \u00f6zelli\u011fi \u201cHurler fenotipi\u201d denen ve kaba y\u00fcz g\u00f6r\u00fc\u00acn\u00fcm\u00fc, hepatosplenomegali, korneal opasite, umblikal herni, boy k\u0131sal\u0131\u011f\u0131, eklem hareketlerinde k\u0131s\u0131tl\u0131l\u0131k ve spesifik iskelet deformiteleri ile karakterli klinik g\u00f6r\u00fc\u00acn\u00fcm\u00fcd\u00fcr. Leptomeninkslerin kal\u0131nla\u015fmas\u0131na ba\u011fl\u0131 nonobstr\u00fcktif hidrosefali g\u00f6r\u00fclebilir.<\/p>\n