{"id":188,"date":"2024-11-04T10:45:59","date_gmt":"2024-11-04T10:45:59","guid":{"rendered":"https:\/\/www.barnaclinic.com\/blog\/digestivo\/?p=188"},"modified":"2024-11-04T10:51:07","modified_gmt":"2024-11-04T10:51:07","slug":"diabetis-tipus-mody-o-monogenica","status":"publish","type":"post","link":"https:\/\/www.barnaclinic.com\/blog\/digestivo\/ca\/diabetis-tipus-mody-o-monogenica\/","title":{"rendered":"Diabetis tipus MODY o diabetis monog\u00e8nica: qu\u00e8 \u00e9s, com detectar-la i la import\u00e0ncia d’un diagn\u00f2stic prec\u00eds"},"content":{"rendered":"

La organitzaci\u00f3 del congr\u00e9s anual de la Societat Espanyola d’Endocrinologia i Nutrici\u00f3<\/a> em va convidar el passat 17 d\u2019octubre a donar una confer\u00e8ncia sobre el diagn\u00f2stic de les diabetis monog\u00e8niques<\/strong>, tamb\u00e9 conegudes com a diabetis tipus MODY<\/strong>. Va ser una magn\u00edfica oportunitat per compartir amb la resta de companys de la societat la nostra experi\u00e8ncia com a centre de refer\u00e8ncia auton\u00f2mic i nacional en el<\/strong> diagn\u00f2stic i tractament d\u2019aquest tipus de diabetis<\/strong>, que, tot i no ser majorit\u00e0ries, poden arribar a representar entre el 3-5% dels casos d\u2019alteracions del nivell de glucosa a la sang<\/strong>.<\/p>\n

<\/p>\n

Qu\u00e8 \u00e9s la diabetis MODY i qu\u00e8 significa diabetis monog\u00e8nica? <\/strong><\/h2>\n

A difer\u00e8ncia de les diabetis tipus 1 i tipus 2<\/strong>, ambdues amb una predisposici\u00f3 gen\u00e8tica evident per\u00f2 basada en l\u2019afectaci\u00f3 de m\u00faltiples gens, en les diabetis monog\u00e8niques<\/strong> el canvi en un \u00fanic gen condiciona un defecte en la secreci\u00f3 d\u2019insulina i, per tant, un alt risc de diabetis<\/strong>. La causa de diabetis tipus MODY o monog\u00e8nica m\u00e9s freq\u00fcent<\/strong> \u00e9s l\u2019afectaci\u00f3 dels gens GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, ABCC8. En altres casos, s\u2019afecten gens relacionats amb el metabolisme de les mitoc\u00f2ndries.<\/p>\n

\n

\"Dr.<\/h4>\n

“En les diabetis monog\u00e8niques o diabetis tipus MODY, a difer\u00e8ncia dels altres tipus de diabetis, el canvi en un \u00fanic gen condiciona un defecte en la secreci\u00f3 d\u2019insulina”<\/h4>\n

Dr. Jes\u00fas Blanco<\/strong><\/a>, endocrin\u00f2leg del Cl\u00ednic Barcelona i de barnacl\u00ednic+<\/p><\/blockquote>\n

\n

TE INTERESA\u2026<\/h4>\n

\u00b7 Nous tipus de diabetis: Qu\u00e8 els defineix i com es classifiquen?<\/a><\/h4>\n<\/div>\n

Com detectar la diabetis monog\u00e8nica? <\/strong><\/h2>\n

Fins fa poc temps, es considerava que per a detectar una diabetis monog\u00e8nica<\/strong> o sospitar-ne la pres\u00e8ncia, calia que es donessin els seg\u00fcents 3 criteris:<\/p>\n

    \n
  1. La diabetis havia de diagnosticar-se abans dels 35 anys.<\/li>\n
  2. Havien de presentar diabetis membres de 2 o m\u00e9s generacions de la fam\u00edlia.<\/li>\n
  3. La diabetis no hauria d\u2019haver requerit tractament amb insulina en els 5 primers anys des del diagn\u00f2stic.<\/li>\n<\/ol>\n

    Actualment, sabem que, si busquem casos de diabetis tipus MODY<\/strong> nom\u00e9s en aquests contextos, perdem l\u2019oportunitat de diagnosticar m\u00e9s de la meitat dels casos de diabetis monog\u00e8niques<\/strong>. Per aquest motiu, la recomanaci\u00f3 actual \u00e9s buscar-los m\u00e9s enll\u00e0 dels casos descrits anteriorment. \u00c9s a dir, per a detectar una diabetis monog\u00e8nica<\/strong>, hem de tenir en compte els seg\u00fcents contextos:<\/p>\n

      \n
    1. Qualsevol diabetis que comen\u00e7a abans dels 6 mesos de vida.<\/li>\n
    2. En els casos d\u2019aparent diabetis tipus 1<\/strong> per\u00f2 en qu\u00e8 no es detecta la pres\u00e8ncia d\u2019anticossos en sang contra la c\u00e8l\u00b7lula beta (generalment els coneixem com anti-GAD, IA2, insulina o ZnT8).<\/li>\n
    3. En persones que presenten nivells alterats de glucosa en dej\u00fa que s\u00f3n poc variables amb el pas del temps i fins i tot poc modificables amb tractaments farmacol\u00f2gics.<\/li>\n
    4. En qualsevol diabetis que no compleix clarament els criteris de diabetis tipus 1 o tipus 2<\/strong>, sobretot, si es diagnostica abans dels 40-45 anys.<\/li>\n<\/ol>\n

      Diabetis monog\u00e8nica, diagn\u00f2stic inequ\u00edvoc i millor tractament de la diabetis tipus MODY<\/strong><\/h2>\n

      El diagn\u00f2stic de les diabetis monog\u00e8niques<\/strong> requereix estudis gen\u00e8tics complexos<\/strong>. Abans, calia estudiar els gens en funci\u00f3 de la sospita diagn\u00f2stica. Avui dia, la majoria de laboratoris, en el estudi gen\u00e8tic per descartar la diabetis tipus MODY<\/strong>, analitzen tot el conjunt de gens generalment afectats alhora. Aix\u00f2 ha augmentat la nostra capacitat de detecci\u00f3 de nous casos i ens permet obtenir un diagn\u00f2stic inequ\u00edvoc de la diabetis tipus MODY<\/strong>.<\/p>\n

      \n

      TE INTERESA\u2026<\/h4>\n

      \u00b7 Despr\u00e9s del diagn\u00f2stic de diabetis, qu\u00e8 faig?<\/a><\/h4>\n<\/div>\n

      Quins avantatges t\u00e9 el diagn\u00f2stic de la diabetis monog\u00e8nica?<\/strong><\/h2>\n

      En primer lloc, cal dir que saber quina \u00e9s la causa concreta d\u2019una malaltia \u00e9s extremadament \u00fatil en qualsevol proc\u00e9s m\u00e8dic. El diagn\u00f2stic de les diabetis tipus MODY<\/strong> ens permet, en moltes ocasions, escollir el millor tractament possible. I \u00e9s que algunes formes de diabetis monog\u00e8nica no requereixen ni tan sols tractament i, en altres, coneixem tractaments fins i tot m\u00e9s efica\u00e7os que la insulina. D\u2019altra banda, detectar la diabetis monog\u00e8nica<\/strong> ens permetr\u00e0 predir l\u2019evoluci\u00f3 futura i plantejar estudis en la resta de familiars.<\/p>\n

      \n

      \"Dr.<\/h4>\n

      “El diagn\u00f2stic de les diabetis tipus MODY<\/strong> ens permet identificar si podem ‘no tractar-la’ (ja que algunes no necessiten tractament) o escollir opcions m\u00e9s eficaces que la insulina per al tractament de la diabetis monog\u00e8nica”<\/h4>\n

      Dr. Jes\u00fas Blanco<\/strong><\/a>, endocrin\u00f2leg del Cl\u00ednic Barcelona i de barnacl\u00ednic+<\/p><\/blockquote>\n

      Si creus que pots tenir una diabetis monog\u00e8nica, \u00e9s a dir, si penses que podria correspondre a aquests casos diferents a la diabetis tipus 1 o tipus 2, no dubtis a consultar-nos.<\/p>\n

      \n
      \n

      Creus que pots tenir una diabetis tipus MODY i vols contactar amb el Dr. Jes\u00fas Blanco?<\/span><\/h3>\n

      DEMANAR CITA<\/a> SOL\u00b7LICITAR TELEVISITA<\/a><\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"

      La organitzaci\u00f3 del congr\u00e9s anual de la Societat Espanyola d’Endocrinologia i Nutrici\u00f3 em va convidar el passat 17 d\u2019octubre a donar una confer\u00e8ncia sobre el diagn\u00f2stic de les diabetis monog\u00e8niques, tamb\u00e9 conegudes com a diabetis tipus MODY. Va ser una magn\u00edfica oportunitat per compartir amb la resta de companys de la societat la nostra experi\u00e8ncia […]<\/p>\n","protected":false},"author":2,"featured_media":201,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[41,98,16],"tags":[12,39,160,157,158,159,125,104,127],"yoast_head":"\nDiabetis tipus MODY o monog\u00e8nica: qu\u00e8 \u00e9s i diagn\u00f2stic prec\u00eds<\/title>\n<meta name=\"description\" content=\"Les diabetis monog\u00e8niques o diabetis tipus MODY poden arribar a suposar el 3-5% dels casos. 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