{"id":72068,"date":"2018-12-06T18:55:08","date_gmt":"2018-12-06T14:55:08","guid":{"rendered":""},"modified":"-0001-11-30T00:00:00","modified_gmt":"-0001-11-29T20:00:00","slug":"","status":"publish","type":"post","link":"https:\/\/ucnoqta.az\/?p=72068","title":{"rendered":"4 ya\u015fl\u0131 u\u015faqda nadir genetik x\u0259st\u0259lik t\u0259sdiql\u0259nib"},"content":{"rendered":"

Az\u0259rbaycan Tibb Universitetinin (ATU) müt\u0259x\u0259ssisl\u0259ri 4 ya\u015fl\u0131 körp\u0259d\u0259 nadir genetik x\u0259st\u0259liyin oldu\u011funu t\u0259sdiql\u0259yibl\u0259r. Bu vaxtad\u0259k raxit diaqnozu il\u0259 müalic\u0259 alan Gül\u015f\u0259n R\u0259sulova adl\u0131 balaca pasiyent \u0259slind\u0259 tamamil\u0259 f\u0259rqli x\u0259st\u0259lik – mukopolisaxaridozdan \u0259ziyy\u0259t ç\u0259kirmi\u015f. <\/strong><\/p>\n

U\u015fa\u011f\u0131n h\u0259kimi, ATU-nun II u\u015faq x\u0259st\u0259likl\u0259ri kafedras\u0131n\u0131n assistenti Adil\u0259 Çernik-Bül\u0259nd bildirir ki,  raxit diaqnozu qoyuldu\u011fu üçün x\u0259st\u0259y\u0259 çox miqdarda vitamin D verilib. N\u0259tic\u0259d\u0259, vitamin D art\u0131ql\u0131\u011f\u0131 – hipervitaminoz yaran\u0131b. Bu, özü d\u0259 ayr\u0131ca bir x\u0259st\u0259likdir. Lakin körp\u0259 Kürd\u0259mird\u0259 yerli nevropatoloq t\u0259r\u0259find\u0259n müayin\u0259 olunark\u0259n, raxit diaqnozunun düzgünlüyü il\u0259 ba\u011fl\u0131 \u015fübh\u0259 yaran\u0131b. Odur ki, balacan\u0131  ATU-ya yönl\u0259ndiribl\u0259r.  
\nAdil\u0259 xan\u0131m\u0131n sözl\u0259rin\u0259 gör\u0259, x\u0259st\u0259nin müayin\u0259si zaman\u0131 mukopolisaxaridoz oldu\u011fundan \u015fübh\u0259l\u0259nib: “Mukopolisaxaridozun özün\u0259 m\u0259xsus \u0259lam\u0259tl\u0259ri var. Bel\u0259 x\u0259st\u0259l\u0259ri\u0259 kür\u0259yind\u0259 tükl\u0259r ç\u0131x\u0131r, qa\u015flar\u0131, kiprikl\u0259ri qal\u0131n olur, saçlar\u0131 uzun,  burun y\u0259h\u0259ri bat\u0131q olur, \u0259ll\u0259ri bir q\u0259d\u0259r iç\u0259riy\u0259 t\u0259r\u0259f  \u0259yilir. M\u0259n d\u0259 u\u015fa\u011f\u0131n \u0259lind\u0259 bu \u0259lam\u0259ti gör\u0259nd\u0259n sonra h\u0259min x\u0259st\u0259likl\u0259 \u015fübh\u0259l\u0259ndim”.
\nH\u0259kim bildirir ki, bu x\u0259st\u0259liyin d\u0259qiq diaqnozunu qoymaq üçün ehtiyac olan analiz çox bahal\u0131d\u0131r. T\u0259k bir analizin qiym\u0259ti 1800 avro t\u0259\u015fkil edir. Lakin G.R\u0259sulovan\u0131n analizini qazax\u0131stanl\u0131 h\u0259mkarlar\u0131n köm\u0259yil\u0259 Almaniyada pulsuz h\u0259yata keçirm\u0259k mümkün olub. T\u0259\u0259ssüf ki, analiz  az\u0259rbaycanl\u0131 h\u0259kiml\u0259rin \u015fübh\u0259l\u0259rini t\u0259sdiql\u0259yib – 4 ya\u015fl\u0131 pasiyentd\u0259 mukopolisaxaridoz x\u0259st\u0259liyi oldu\u011fu t\u0259sdiql\u0259nib. <\/p>\n

Adil\u0259 Çernik-Bül\u0259nd qeyd edir ki, bel\u0259 x\u0259st\u0259l\u0259rin orqanizmind\u0259 enzim fermenti olmur. Orqanimzd\u0259 tur\u015f mukopolisaxaridl\u0259rin mübadil\u0259si pozulur, parçalanmam\u0131\u015f, tam yanmam\u0131\u015f madd\u0259l\u0259r lizosomonlarda toplan\u0131r. N\u0259tic\u0259d\u0259 tur\u015f mukopolisaxaridl\u0259rin utilizasiyas\u0131 pozulur. Sümükl\u0259r \u0259yilir, kür\u0259kd\u0259 qozbellik yaran\u0131r.  Bu irsi x\u0259st\u0259liyin 7 növü var. Qurler, Hunter, Sanfilippo, Morkio, Maroto-lami, \u015eeye v\u0259 Slay sindromu.  M\u0259s\u0259l\u0259n, m\u0259\u015fhur “Notrdam kils\u0259sinin qozbeli” \u0259s\u0259rind\u0259ki Kvazimoda m\u0259hz bu x\u0259st\u0259liyin birinci tipi olan quller x\u0259st\u0259si olub. Bel\u0259 x\u0259st\u0259l\u0259r yaln\u0131z son m\u0259rh\u0259l\u0259d\u0259 h\u0259min formaya dü\u015fürl\u0259r. <\/p>\n

H\u0259r bir növd\u0259 konkret bir ferment çat\u0131\u015fmazl\u0131\u011f\u0131 mü\u015fahid\u0259 olunur. Ona gör\u0259 d\u0259 x\u0259st\u0259liyin h\u0259r bir tipin\u0259 uy\u011fun çat\u0131\u015fmayan ferment x\u0259st\u0259y\u0259 vurulur. Lakin bu müalic\u0259 ömürlük davam etm\u0259lidir. 
\nAdil\u0259 Çernik-Bül\u0259nd qeyd edir ki, 4 ya\u015fl\u0131 balaca Gül\u015f\u0259n\u0259 d\u0259 müalic\u0259 laz\u0131md\u0131r. H\u0259l\u0259lik simptomatik müalic\u0259 yaz\u0131l\u0131r. Lakin bu nadir rast g\u0259lin\u0259n x\u0259st\u0259liyin müalic\u0259si d\u0259 baha oldu\u011fundan, x\u0259st\u0259nin ail\u0259sin\u0259 S\u0259hiyy\u0259 Nazirliyi t\u0259r\u0259find\u0259n yard\u0131m olunacaq. 
\nH\u0259kim m\u0259sl\u0259h\u0259t görür ki, u\u015faqlar\u0131nda bel\u0259 irsi x\u0259st\u0259lik olan valideynl\u0259r növb\u0259ti d\u0259f\u0259 u\u015faq gözl\u0259y\u0259nd\u0259, mütl\u0259q genetik analizd\u0259n keçsinl\u0259r v\u0259 yaln\u0131z risk olmad\u0131\u011f\u0131 halda ikinci u\u015fa\u011f\u0131 dünyaya g\u0259tisinl\u0259r. <\/p>\n

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

Az\u0259rbaycan Tibb Universitetinin (ATU) müt\u0259x\u0259ssisl\u0259ri 4 ya\u015fl\u0131 körp\u0259d\u0259 nadir genetik x\u0259st\u0259liyin oldu\u011funu t\u0259sdiql\u0259yibl\u0259r. Bu vaxtad\u0259k raxit diaqnozu il\u0259 müalic\u0259 alan Gül\u015f\u0259n R\u0259sulova adl\u0131 balaca pasiyent \u0259slind\u0259 tamamil\u0259 f\u0259rqli x\u0259st\u0259lik –…<\/p>\n","protected":false},"author":1,"featured_media":251278,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[],"tags":[],"class_list":["post-72068","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry"],"_links":{"self":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts\/72068","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=72068"}],"version-history":[{"count":0,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/posts\/72068\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=\/wp\/v2\/media\/251278"}],"wp:attachment":[{"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=72068"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=72068"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ucnoqta.az\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=72068"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}