{"id":9274,"date":"2020-04-23T03:33:21","date_gmt":"2020-04-23T01:33:21","guid":{"rendered":"https:\/\/www.synevo.ro\/product\/mutatia-protrombinica-factor-ii\/"},"modified":"2025-07-01T07:56:01","modified_gmt":"2025-07-01T04:56:01","slug":"mutatia-protrombinica-factor-ii","status":"publish","type":"product","link":"https:\/\/old.synevo.md\/ru\/shop\/mutatia-protrombinica-factor-ii\/","title":{"rendered":"\u041c\u0443\u0442\u0430\u0446\u0438\u044f \u043f\u0440\u043e\u0442\u0440\u043e\u043c\u0431\u0438\u043d\u0430 (\u0444\u0430\u043a\u0442\u043e\u0440 II)"},"content":{"rendered":"

Informa\u0163ii generale \u015fi recomand\u0103ri<\/strong><\/em><\/p>\n

Muta\u0163ia genei protrombinei a fost descoperit\u0103 \u00een 1996 de c\u0103tre Poort \u015fi colaboratorii s\u0103i. Aceasta se datoreaz\u0103 unei substitu\u0163ii nucleotidice (guanina G este \u00eenlocuit\u0103 cu adenina) la nivelul perechii de baze 20210, situa\u0163\u0103 \u00een regiunea 3\u2019 netranslatat\u0103 a genei factorului II4<\/sup>. Muta\u0163ia se asociaz\u0103 cu niveluri de protrombin\u0103 mai mari cu 30% dec\u00e2t normalul, care vor induce o stare de hipercoagulabilitate u\u015foar\u0103, ce poate predispune la tromboz\u0103 venoas\u01033<\/sup>.Trombofilia reprezint\u0103 o condi\u0163ie ereditar\u0103 sau dob\u00e2ndit\u0103 asociat\u0103 cu o predispozi\u0163ie individual\u0103 fa\u0163\u0103 de evenimente trombotice.<\/p>\n

Prevalen\u0163a muta\u0163iei \u00een popula\u0163ia caucazian\u0103 este \u00een medie de 2%, cele mai multe cazuri \u00eenregistr\u00e2ndu-se \u00een \u0163\u0103rile Europei de Sud. Indivizii heterozigo\u0163i au un risc de tromboz\u0103 de 3 ori mai mare dec\u00e2t persoanele cu factor II normal; la homozigo\u0163i magnitudinea riscului nu a fost pe deplin stabilit\u01033;4<\/sup><\/p>\n

Dup\u0103 muta\u0163ia factorului V Leiden, muta\u0163ia protrombinei reprezint\u0103 a 2-a cauz\u0103 de trombofilie ereditar\u0103, fiind demonstrat\u0103 \u00een ~ 20% din cazuri. Astfel, aceasta muta\u0163ie a fost confirmat\u0103 la pacien\u0163i cu tromboz\u0103 idiopatic\u0103 a venei porte sau a sinusurilor cerebrale, paciente cu tromboze venoase \u00een cursul administr\u0103rii contraceptivelor orale, precum \u015fi la gravide care prezint\u0103 complica\u0163ii ale sarcinii (retard de cre\u015ftere intrauterin\u0103, apoplexie utero-placentar\u0103). Muta\u0163ia este depistat\u0103 la 6-8% dintre pacien\u0163ii afla\u0163i la primul episod de tromboz\u0103 venoas\u01033<\/sup>. S-a constatat de asemenea c\u0103 riscul de tromboz\u0103 venoas\u0103 profund\u0103 este de 16.3 ori mai mare la pacientele care folosesc contraceptive orale \u015fi sunt purt\u0103toare ale muta\u0163iei, \u00een compara\u0163ie cu lotul martor. \u00cen perioada sarcinii \u015fi post-partum, prezen\u0163a muta\u0163iei confer\u0103 un risc de 15.2 ori mai mare dec\u00e2t cel estimat la aceea\u015fi categorie de paciente \u00een absen\u0163a defectului genetic, iar la femeile care primesc terapie hormonal\u0103 de substitu\u0163ie \u00een perioada postmenopauz\u0103 se \u00eenregistreaz\u0103 o cre\u015ftere a riscului de 2-4 ori4<\/sup>.<\/p>\n

\u00cen plus, riscul de tromboz\u0103 venoas\u0103 cre\u015fte la persoanele care asociaz\u0103 \u015fi alte defecte genetice, \u00een special muta\u0163ia factorului V Leiden. Un procent de p\u00e2n\u0103 la 40% din indivizii care prezint\u0103 muta\u0163ia protrombinic\u0103 asociaz\u0103 concomitent \u015fi muta\u0163ia factorului V Leiden; studiile au demonstrat c\u0103 \u00een aceste cazuri cre\u015fte riscul de tromboz\u0103 venoas\u0103 recurent\u0103 dup\u0103 un prim episod trombotic. Acest fapt subliniaz\u0103 necesitatea analizei ambelor muta\u0163ii la pacien\u0163ii cu suspiciune de trombofilie ereditar\u01033;4<\/sup>.<\/p>\n

\u00cen ceea ce prive\u015fte complica\u0163iile sarcinii, prezen\u0163a muta\u0163iei genei protrombinei ca \u015fi cea a factorului V Leiden \u015fi MTHFR (metilentetrahidrofolat reductaza), se asociaz\u0103 cu un risc crescut de pierderi recurente de sarcin\u0103, \u00een special \u00een trimestrele II \u015fi III1<\/sup>.<\/p>\n

De\u015fi muta\u0163ia protrombinic\u0103 nu a fost asociat\u0103 cu tromboze arteriale (infarct miocardic, AVC) aceasta poate interac\u0163iona cu al\u0163i factori de risc cum ar fi fumatul \u015fi hipertensiunea, cresc\u00e2nd riscul de evenimente trombotice4<\/sup>.<\/p>\n

Screening-ul membrilor asimptomatici \u00een familiile la care s-a depistat muta\u0163ia nu este recomandat pe scar\u0103 larg\u0103, datorit\u0103 inciden\u0163ei anuale sc\u0103zute de tromboze venoase. Cu toate acestea, investigarea poate aduce beneficii \u00een situa\u0163iile \u00een care se au \u00een vedere sarcina, administrarea de contraceptive orale, sau \u00eenaintea unor interven\u0163ii chirurgicale, la care tratamentul anticoagulant profilactic poate aduce beneficii4<\/sup>.<\/p>\n

\u00cen concluzie, recomand\u0103rile pentru detectarea muta\u0163iei protrombinei sunt acelea\u015fi ca \u015fi pentru muta\u0163ia factorului V Leiden:
\n\u2013 evenimente trombotice survenite la pacien\u0163i tineri (<50 ani);
\n\u2013 tromboze venoase recurente;
\n\u2013 tromboze venoase \u00een teritorii anatomice \u201cneobi\u015fnuite\u201d: vena port\u0103, vene hepatice, mezenterice, cerebrale, etc.;
\n\u2013 antecedente familiale de tromboze venoase la indivizi <50 ani;
\n\u2013 paciente cu pierderi de sarcin\u0103 \u00een trimestrele II \u015fi III, de cauz\u0103 incert\u0103;
\n\u2013 dup\u0103 o consiliere adecvat\u0103, la pacientele asimptomatice din familiile la care s-a depistat muta\u0163ia, \u00eenainte de administrarea de contraceptive orale \u015fi a unei eventuale sarcini4<\/sup>.<\/p>\n

Testul efectuat \u00een laboratorul Synevo utilizeaz\u0103 tehnica real-time PCR pe instrumentul LightCycler pentru detec\u0163ia \u015fi genotiparea muta\u0163ei factorului protrombinei, la pacien\u0163i cu suspiciune clinic\u0103 de trombofilie2<\/sup>.<\/p>\n

Specimen recoltat<\/strong> \u2013 s\u00e2nge venos2<\/sup>.
\nRecipient de recoltare<\/strong> \u2013 vacutainer ce con\u0163ine EDTA ca anticoagulant2<\/sup>.
\nCantitate recoltat\u0103<\/strong> \u2013 c\u00e2t permite vacuumul2<\/sup>.
\nCauze de respingere a probei <\/strong>\u2013 folosirea heparinei ca anticoagulant2<\/sup>.- folosirea heparinei ca anticoagulant.
\nStabilitate prob\u0103 <\/strong>\u2013 7 zile la 2-8\u00baC2<\/sup>.
\nMetod\u0103<\/strong> \u2013 Real-time PCR (LightCycler): reac\u0163ie de polimerizare \u00een lan\u0163 cu detec\u0163ie \u00een timp real a produsului PCR acumulat, prin m\u0103surarea fluorescen\u0163ei emise; la sf\u00e2r\u015fitul ciclurilor de amplificare se efectueaz\u0103 genotiparea, prin analiza curbei de topire2<\/sup>.<\/p>\n

Interpretarea rezultatelor<\/strong><\/em>
\nPentru un pacient, se raporteaz\u0103 unul din cele 3 rezultate posibile:
\n\u2013 genotip s\u0103lbatic homozigot (negativ pentru muta\u0163ia factorului II);
\n\u2013 genotip heterozigot (con\u0163ine o alel\u0103 s\u0103lbatic\u0103 \u015fi una mutant\u0103 pentru factorul II);
\n\u2013 genotip mutant homozigot (con\u0163ine ambele alele mutante)2<\/sup>.<\/p>\n

Limite \u015fi interferen\u0163e<\/strong><\/em>
\nLa nivelul genei factorului II, pe l\u00e2ng\u0103 muta\u0163ia 20210 mai sunt posibile alte 4 muta\u0163ii: 20209, 20207, 20218 \u015fi 20221. La genotipare, aceste muta\u0163ii rare vor conduce la un rezultat ne\u00eencadrabil \u00een tipurile mai sus men\u0163ionate2<\/sup>.<\/p>\n


\n\u0411\u0438\u0431\u043b\u0438\u043e\u0433\u0440\u0430\u0444\u0438\u044f<\/small><\/p>\n

1. Ann M. Gronowski. Pregnacy Loss. In Handbook of Clinical Laboratory Testing During Pregnancy, Humana Press, Totowa, New Jersey, 2004, 341.
\n2. Laborator Synevo. Referin\u0163e specifice tehnologiei de lucru utilizate 2006. Ref Type: Catalog.
\n3. Laboratory Corporation of America.Directory of Services and Interpretive Guide. Factor II (Prothrombin) Mutation, DNA Analysis. www.labcorp.com 2003. Ref Type: Internet Communication
\n4. Ronald C. McGlennen, Nigel S. Key. Clinical and Laboratory Management of the Prothrombin G20210A Mutation. In Arch Pathol, 2002; 126:1319-1325.<\/small><\/p>","protected":false},"excerpt":{"rendered":"

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