{"id":67217,"date":"2025-01-29T09:48:53","date_gmt":"2025-01-29T07:48:53","guid":{"rendered":"https:\/\/www.synevo.md\/?post_type=product&p=67217"},"modified":"2025-07-01T07:56:19","modified_gmt":"2025-07-01T04:56:19","slug":"testare-genetica-sindrom-marfan","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/testare-genetica-sindrom-marfan\/","title":{"rendered":"Testare genetica sindrom Marfan"},"content":{"rendered":"
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Informatii generale despre Testarea genetica sindrom Marfan:<\/strong><\/h2>\n

Sindromul Marfan clasic este cea mai comun\u0103 afec\u021biune a \u021besutului conjunctiv. Este cauzat de variante patogene \u00een gena FBN1<\/em>, ce codific\u0103 fibrilina-1 secretat\u0103 de c\u0103tre fibroblaste \u0219i reprezint\u0103, al\u0103turi de colagen \u0219i elastin\u0103, cel mai important element structural al matricei extracelulare a \u021besutului conjunctiv. Variante patogene \u00een gena fibrilinei pot duce la un spectru larg de manifest\u0103ri clinice \u00een diferite sisteme \u0219i organe. Simptomatologia include, predominant, manifest\u0103ri cardiovasculare, scheletice \u0219i oculare (disloca\u0163ia de cristalin sau ectopia cristalinului).<\/p>\n

Conform criteriilor de diagnostic Ghent Nosology, revizuite \u00een 2010, diagnosticul de sindrom Marfan poate fi confirmat atunci c\u00e2nd sunt detectate dilatarea izolat\u0103 a r\u0103d\u0103cinii aortei \/ disec\u021bia de aort\u0103 \u0219i o variant\u0103 patogen\u0103 \u00een gena FBN1<\/em>, sau combina\u021bia dintre ectopie de cristalin izolat\u0103 \u0219i o varianta patogen\u0103 \u00een gena FBN1<\/em>, \u00een asociere cu dilatarea r\u0103d\u0103cinii aortei. \u00cen prezen\u021ba dilatarii r\u0103d\u0103cinei aortice (scorul z>2) \u0219i absen\u021bei de variante la nivelul genei FBN1<\/em>, este recomandat\u0103 examinarea genelor TGFBR1 <\/em>\u0438 TGFBR2<\/em>.<\/p>\n

3 gene vizate:\u00a0<\/strong>FBN1, TGFBR1, TGFBR2<\/p>\n

La pacien\u021bii cu sindrom Marfan clasic, variantele patogene \u00een gena FBN1 <\/em>sunt identificate \u00een peste 95% dintre cazuri. La 5-25% dintre pacien\u021bii care prezint\u0103 simptomatologie incomplet\u0103 de sindrom Marfan cu elemente adi\u021bionale (sindrom Marfan-like sau sindrom Marfan incomplet) \u0219i la care nu s-au identificat variante patogene \u00een gena FBN1<\/em>, au fost identificate variante \u00een genele TGFBR1 <\/em>\u0438 TGFBR2<\/em>. Rat\u0103 de detec\u021bie a muta\u021biilor \u00een genele TGFBR1 <\/em>\u0438 TGFBR2<\/em>, \u00een anevrismele de aorta toracic\u0103 \u0219i disec\u021biile de aort\u0103, este de aproximativ 5%.<\/p>\n

De\u0219i sindromul Marfan nu este curabil, tratamentul poate \u00eembun\u0103t\u0103\u021bi simptomatologia \u0219i reduce riscul de apari\u021bie a complica\u021biilor, mai ales dac\u0103 este ini\u021biat precoce, \u00een evolu\u021bia bolii. Tipul tratamentului depinde de sistemele de organe afectate \u0219i de severitatea bolii. Medicamentele ce scad tensiunea arterial\u0103 sunt recomandate pentru a preveni dilatarea aortei \u0219i pentru a reduce riscul de disec\u021bie \u0219i ruptur\u0103. Beta-blocantele \u0219i blocan\u0163ii de receptori de angiotensin\u0103 sunt frecvent indica\u021bi.<\/p>\n

Blocantele canalelor de calciu \u0219i inhibitorii enzimei de conversie a angiotensinei pot fi prescri\u015fi ca alternativ\u0103 \u00een cazurile \u00een care apar efecte adverse \u00een timpul administr\u0103rii de beta-bocante sau blocan\u0163ilor de receptori de angiotensin\u0103.<\/p>\n

Prevalen\u021b\u0103: <\/strong>1:5000<\/p>\n

Mod de transmitere:<\/strong>\u00a0Autozomal dominant (fenotip bl\u00e2nd) sau recesiv (fenotip sever)<\/p>\n

Preg\u0103tire pacient <\/strong>\u2013 nu este necesara pregatirea pacientilor.<\/p>\n

Specimen recoltat <\/strong>\u2013 s\u00e2nge venos.<\/p>\n

Recipient de recoltare <\/strong>\u2013 vacutainer cu EDTA, capac mov.<\/p>\n

Cantitatea recoltat\u0103 <\/strong>\u2013 5 ml.<\/p>\n

Stabilitate prob\u0103: <\/strong>72 ore, 2-8\u00b0C.<\/p>\n

Formular consim\u021b\u0103m\u00e2nt<\/strong><\/a><\/p>\n

Referin\u021be:<\/p>\n

www.medicover-genetics.com<\/a><\/p>\n<\/div>\n<\/div>","protected":false},"excerpt":{"rendered":"

Informatii generale despre Testarea genetica sindrom Marfan: Sindromul Marfan clasic este cea mai comun\u0103 afec\u021biune a \u021besutului conjunctiv. Este cauzat de variante patogene \u00een gena FBN1, ce codific\u0103 fibrilina-1 secretat\u0103 de c\u0103tre fibroblaste \u0219i reprezint\u0103, al\u0103turi de colagen \u0219i elastin\u0103, cel mai important element structural al matricei extracelulare a \u021besutului conjunctiv. Variante patogene \u00een gena … Continued<\/a><\/p>","protected":false},"featured_media":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"product_brand":[],"product_cat":[969],"product_tag":[],"class_list":{"0":"post-67217","1":"product","2":"type-product","3":"status-publish","5":"product_cat-teste-de-genetica-umana","7":"first","8":"instock","9":"shipping-taxable","10":"purchasable","11":"product-type-simple"},"_links":{"self":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product\/67217","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product"}],"about":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/types\/product"}],"replies":[{"embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/comments?post=67217"}],"wp:attachment":[{"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/media?parent=67217"}],"wp:term":[{"taxonomy":"product_brand","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_brand?post=67217"},{"taxonomy":"product_cat","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_cat?post=67217"},{"taxonomy":"product_tag","embeddable":true,"href":"https:\/\/old.synevo.md\/ru\/wp-json\/wp\/v2\/product_tag?post=67217"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}