{"id":2377,"date":"2017-10-15T11:47:25","date_gmt":"2017-10-15T11:47:25","guid":{"rendered":"http:\/\/rda-al.com\/blog\/?p=2377"},"modified":"2017-10-19T20:43:45","modified_gmt":"2017-10-19T20:43:45","slug":"gjenetika-e-pku-se","status":"publish","type":"post","link":"http:\/\/rda-al.com\/sq\/gjenetika-e-pku-se\/","title":{"rendered":"Aspekti gjenetik i phenylketonuris\u00eb (PKU-s\u00eb)"},"content":{"rendered":"<p><strong>Aspekti gjenetik i phenylketonuris\u00eb (PKU-s\u00eb)<\/strong><\/p>\n<p>Gjenet jan\u00eb struktur\u00eb e r\u00ebnd\u00ebsishme e cdo\u00a0 qelize t\u00eb trupit si p\u00ebrgjegj\u00ebs p\u00ebr \u00e7do tipar q\u00eb ne kemi, t\u00eb tilla si ngjyra e syve, shtatlart\u00ebsia etj. <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[1]<\/sup><\/a><\/p>\n<p>Gjenet gjithashtu mbajn\u00eb instruksione p\u00ebr t\u00eb prodhuar enzima t\u00eb ndryshme q\u00eb trupi yn\u00eb ka nevoj\u00eb p\u00ebr t\u00eb zb\u00ebrthyer aminoacidet, si nj\u00ebsi themelore t\u00eb molekulave proteinike. \u00a0N\u00eb mjaft s\u00ebmundje gjenetike, disa gjene kan\u00eb mutacione, ose udh\u00ebzime t\u00eb gabuara, t\u00eb cilat b\u00ebjn\u00eb q\u00eb enzimat n\u00eb organizmin e njeriut.<a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[2]<\/sup><\/a><\/p>\n<p>Phenylketonuria (PKU) \u00ebsht\u00eb nj\u00eb crregullim gjenetik, ku mutacionet ndodhen n\u00eb gjenin PAH, p\u00ebrgjegj\u00ebs i niveleve t\u00eb ulura t\u00eb enzim\u00ebs <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylalanine_hydroxylase\">phenylalanine hydroxylase<\/a>.<\/p>\n<p><strong>PKU shkaktohet nga mutacionet n\u00eb gjenin PAH<\/strong><\/p>\n<p>\u00c7do individ merr dy kopje t\u00eb nj\u00eb gjeni, nj\u00eb nga secili prind. P\u00ebr nj\u00eb person q\u00eb t\u00eb ket\u00eb PKU, duhet q\u00eb si n\u00ebna ashtu dhe babai t\u00eb jen\u00eb bart\u00ebs t\u00eb gjenin mutant t\u00eb phenylalanine hydroxylase (PAH).<br \/>\nSecili prind \u00ebsht\u00eb nj\u00eb &#8220;bart\u00ebs&#8221; sepse ai ose ajo mbartin nj\u00eb kopje t\u00eb gjenit mutant, pra gjenin q\u00eb shkakton \u00a0s\u00ebmundjen dhe nj\u00eb kopje t\u00eb gjenit q\u00eb nuk \u00ebsht\u00eb i kthyer ne mutant. Personat q\u00eb jan\u00eb bart\u00ebs t\u00eb gjenit PKU nuk kan\u00eb asnj\u00eb simptom\u00eb t\u00eb njohur. <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[1]<\/sup><\/a><\/p>\n<p>P\u00ebr t\u00eb pasur PKU, nj\u00eb person duhet t\u00eb marr\u00eb dy gjene mutante, nj\u00eb nga secili prind.<\/p>\n<blockquote><p>P\u00ebraf\u00ebrsisht 1 n\u00eb 50 deri n\u00eb 60 prej nesh ka nj\u00eb gjen t\u00eb mutant PAH, por megjithat\u00eb vet\u00ebm 1 n\u00eb 10,000 deri n\u00eb 15,000 njer\u00ebz n\u00eb Shtetet e Bashkuara trash\u00ebgon dy gjenet mutante PAH &#8211; nj\u00eb nga \u00e7do prind &#8211; gj\u00eb q\u00eb shkakton PKU.<sup>1,2<\/sup><\/p><\/blockquote>\n<p><strong>Cilat jan\u00eb nivelet e ndryshme t\u00eb ashp\u00ebrsis\u00eb s\u00eb PKU-s\u00eb?<\/strong><\/p>\n<p>Njer\u00ebzit me PKU mund t\u00eb ken\u00eb nivele t\u00eb ndryshme t\u00eb munges\u00ebs s\u00eb PAH, q\u00eb rezultojn\u00eb n\u00eb kuad\u00ebr klinik t\u00eb ndrysh\u00ebm\u00a0 t\u00eb shfaqjes s\u00eb shenjave dhe simptomave\u00a0 n\u00eb Phenylketonuri. Hasen disa tipe t\u00eb PKU n\u00eb var\u00ebsi t\u00eb aspektit klinik si PKU klasike, PKU t\u00eb moderuar ose variant, PKU e leht\u00eb, si dhe hiperfenilalaninemia.<a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[1]<\/sup><\/a><\/p>\n<p>Bazuar n\u00eb nivelet e Phe n\u00eb gjakun e pacient\u00ebve me \u00a0Phenylketonuri, ekzistojn\u00eb 4 nivele t\u00eb ashp\u00ebrsis\u00eb s\u00eb PKU<sup><a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\">[3]<\/a><\/sup>:<\/p>\n<ul>\n<li>Hyperfenilalaninemia, me nivel t\u00eb Phe q\u00eb jan\u00eb pak m\u00eb t\u00eb larta se niveli normal: 120-600 \u03bcmol\/L (2-10 mg\/dL)<\/li>\n<li>I leht\u00eb, me nivel m\u00eb t\u00eb ul\u00ebt t\u00eb Phe n\u00eb gjak: 600-900 \u03bcmol\/L (10-15 mg\/dL)<\/li>\n<li>I Moderuar ose variant, me nivelet t\u00eb Phe n\u00eb gjak diku n\u00eb mes: 900-1200 \u03bcmol\/L (15-20 mg\/dL)<\/li>\n<li>PKU e r\u00ebnd\u00eb ose &#8220;klasike&#8221;, me nivele tep\u00ebr t\u00eb larta t\u00eb Phe n\u00eb gjak: &gt;1200 \u03bcmol\/L (20 mg\/dL)<\/li>\n<\/ul>\n<p>P\u00ebr shkak se efektet e PKU bazohen n\u00eb k\u00ebto nivele t\u00eb ndryshme t\u00eb munges\u00ebs s\u00eb PAH, udh\u00ebzimet e fundit kan\u00eb filluar ti referohen PKU si munges\u00eb t\u00eb PAH, e cila p\u00ebrfaq\u00ebson m\u00eb mir\u00eb spektrin e ashp\u00ebrsis\u00eb s\u00eb s\u00ebmundjes. <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[3]<\/sup><\/a><\/p>\n<blockquote><p>N\u00eb PKU, nivelet e Phe n\u00eb gjak mund t\u00eb jen\u00eb deri n\u00eb 60 her\u00eb m\u00eb t\u00eb larta se nivelet normale t\u00eb Phe n\u00eb gjak, t\u00eb cilat mesatarisht jan\u00eb n\u00eb rreth 1 mg\/dL.4<\/p><\/blockquote>\n<p>Kontrolli i niveleve t\u00eb Phe n\u00eb gjak \u00ebsht\u00eb nj\u00eb pjes\u00eb e r\u00ebnd\u00ebsishme e menaxhimit t\u00eb PKU. P\u00ebrftimi dhe mbajtja e kontrollit mbi nivelet e Phe-s\u00eb t\u00eb gjakut nga foshnj\u00ebria deri n\u00eb mosh\u00ebn e rritur do t\u00eb ndihmoj\u00eb n\u00eb mbrojtje t\u00eb sh\u00ebndetit t\u00eb trurit tuaj tani dhe p\u00ebr pjes\u00ebn tjet\u00ebr t\u00eb jet\u00ebs suaj. <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-NIH2016-1\"><sup>[3]<\/sup><\/a><br \/>\nUdh\u00ebzimet aktuale t\u00eb trajtimit rekomandojn\u00eb ruajtjen e niveleve t\u00eb Phe nd\u00ebrmjet 120-360 \u03bcmol\/L (2-6 mg \/ dL) p\u00ebr jet\u00eb. <a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-Al2015-3\"><sup>[4]<\/sup><\/a><\/p>\n<p>Nd\u00ebrkohe mjaft shtete p\u00ebrcaktimi i Phe \u00ebsht\u00eb b\u00ebr\u00eb pjes\u00eb e screening t\u00eb t\u00eb porsalindurve.<a href=\"https:\/\/en.wikipedia.org\/wiki\/Phenylketonuria#cite_note-Al2015-3\"><sup>[4]<\/sup><\/a><\/p>\n<pre><strong>References:<\/strong> \r\n1. ACOG Committee Opinion No. 449. Maternal phenylketonuria. Obstet Gynecol. 2009;114(6):1432-1433.\r\n2. Guldberg P, Rey F, Zschocke J, et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet. 1998;63(1):71-79. \r\n3. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010;376(9750):1417-1427. \r\n4. Vockley J, Andersson HC, Antshel KM, et al; for the American College of Medical Genetics and Genomics Therapeutic Committee. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014;16(2):188-200.<\/pre>\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>Aspekti gjenetik i phenylketonuris\u00eb (PKU-s\u00eb) Gjenet jan\u00eb struktur\u00eb e r\u00ebnd\u00ebsishme e cdo\u00a0 qelize t\u00eb trupit si p\u00ebrgjegj\u00ebs p\u00ebr \u00e7do tipar q\u00eb ne kemi, t\u00eb tilla si ngjyra e syve, shtatlart\u00ebsia [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":true,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[28,29,30,31,27],"_links":{"self":[{"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/posts\/2377"}],"collection":[{"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/comments?post=2377"}],"version-history":[{"count":2,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/posts\/2377\/revisions"}],"predecessor-version":[{"id":2379,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/posts\/2377\/revisions\/2379"}],"wp:attachment":[{"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/media?parent=2377"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/categories?post=2377"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/rda-al.com\/sq\/wp-json\/wp\/v2\/tags?post=2377"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}