Mukati
- Tinogona kufunga nezve nhumbu neMarfan syndrome?
- Mimba inofamba sei kana uine Marfan syndrome?
- Ndedzipi njodzi uye matambudziko eMarfan syndrome panguva yekuzvitakura?
- Marfan syndrome uye pamuviri: ndeipi njodzi iyo mwana anobatwawo?
- Ko prenatal diagnostics inogona kuitwa here kuziva Marfan syndrome muchibereko?
- Ko pre-implantation diagnosis ingaitwe here kudzivirira mbereko kuti isakanganiswa?
- Pamuviri uye Marfan syndrome: sei kusarudza maternity?
- Kubata pamuviri uye Marfan syndrome: tinogona kuva nechirwere chepidural?
- Pregnancy and Marfan Syndrome: Kusununguka kunokonzereswa here kana kuti nekuvhiya?
Marfan syndrome ndeye chisingawanzo genetic chirwere, ine autosomal dominant transmission, inobata vese vakadzi nevarume. Rudzi urwu rwekufambiswa kwemajini zvinoreva kuti, "kana mubereki akabatwa, njodzi yemwana wega wega yekubatwa nechirwere ndeye 1 mu2 (50%)., pasinei nokuti munhukadzi”, Anotsanangura Dr Sophie Dupuis Girod, anoshanda paMarfan Disease uye Rare Vascular Diseases Competence Center, mukati meCHU de Lyon. Zvinofungidzirwa kuti munhu mumwe chete pavanhu vashanu anotapurwa.
"Chirwere chinonzi connective tissue, kureva kuti kutsigira matishu, ane hurema hunogona kubata akati wandei nenhengo dzakati wandei.”, Vanotsanangura Dr Dupuis Girod. Inokanganisa matishu anotsigira emuviri, ayo anonyanya kuwanikwa mukati ganda, uye tsinga huru, kusanganisira aorta, iyo inogona kuwedzera muhupamhi. Inogonawo kukanganisa mafiber anobata lens, uye kukonzera kubviswa kwelens.
Vanhu vane Marfan syndrome havazivikanwi nguva dzose, kunyange zvazvo zvakaonekwa kuti izvi zvinowanzoitika kureba, neminwe mirefu uye zviri nani kuonda. Ivo vanogona kuratidza kuchinjika kukuru, ligament uye majoini hyperlaxity, kana kunyange kutambanudza mamaki.
Zvisinei, kune vatakuri veiyo genetic mutation vane zviratidzo zvishoma, uye vamwe vanoratidza zviratidzo zvakawanda, dzimwe nguva mukati memhuri imwe chete. Mumwe anogona kusvikwa nekuomarara kwakasiyana-siyana.
Tinogona kufunga nezve nhumbu neMarfan syndrome?
"Chinhu chinokosha muhosha yaMarfan ndiko kutsemuka kwetsinga: kana aorta yanyanya kunyungudutswa, sebharumu rafuridzirwa zvakanyanya, pane ngozi yokuti rusvingo runenge rwakanyanya kutetepa. uye kutyora”, Vanotsanangura Dr Dupuis-Girod.
Nekuda kwekuwedzera kwekuyerera kweropa uye shanduko yehomoni yaanoita, nhumbu inguva ine njodzi kune vese vakadzi vanobatwa. Nekuti shanduko idzi dzinogona kuperekedzwa nekuwedzera kwengozi yekuwedzera kweaorta kana kunyange kuparadzaniswa kweaorta muna amai vane pamuviri.
Kana iyo aortic dhayamita yakakura kupfuura 45 mm, kubata pamuviri kunopesana nokuti njodzi yekufa kubva kune yakaputika aorta yakakwirira, anodaro Dr. Dupuis-Girod. Kuvhiyiwa kwetsinga kunokurudzirwa kusati kwaita pamuviri.
Pazasi 40 mm muaortic dhayamita, nhumbu inobvumidzwa, nepopakati pe40 ne45 mm mudhayamita, unofanirwa kungwarira zvakanyanya.
Mukurudziro yavo yekutarisira kubata pamuviri mumukadzi ane Marfan syndrome, iyo Biomedicine Agency uye National College yeGynecologists uye Obstetricians yeFrance (CNGOF) inotsanangura izvozvo. njodzi yeaortic dissection iripo"chero dhayamita yeaortic", Asi kuti njodzi iyi"inoonekwa sediki kana dhayamita iri pasi pe40mm, asi inoonekwa seyakakura kumusoro, kunyanya pamusoro pe45mm".
Gwaro rinotsanangura kuti kubata pamuviri kunopesana kana murwere:
- Inoratidzwa neaortic dissection;
- Iine mechanical valve;
- Iine aortic dhayamita yakakura kupfuura 45 mm. Pakati pe40 ne45 mm, sarudzo inofanira kuitwa pane imwe nyaya-ne-kesi.
Mimba inofamba sei kana uine Marfan syndrome?
Kana amai vari mutakuri weMarfan syndrome, aortic ultrasound nachiremba wemwoyo anoziva nezvechirwere ichi inofanira kuitwa pakupera kwekutanga trimester, pakupera kwechipiri trimester, uye pamwedzi panguva yechitatu trimester, uyewo pamusoro. mwedzi mushure mekusununguka.
Nhumbu inofanira kuenderera mberi pa beta-blocker therapy, muhuwandu hwakazara kana zvichibvira (bisoprolol 10 mg semuenzaniso), mukubvunzana nachiremba wezvekubereka, inocherechedza CNGOF mune mazano ayo. Iyi beta-blocker kurapwa, yakatemerwa kudzivirira aorta, haifaniri kumira, kusanganisira panguva yekusununguka. Kuyamwisa zvino hazvigoneke nekuda kwekupfuura kwe beta blocker mumukaka.
Izvo zvinofanirwa kucherechedzwa kuti kurapwa neinoshandura enzyme inhibitor (ACE) kana sartans inopesana panguva yekuzvitakura.
Kana murume/mukadzi akabatwa chete, nhumbu yacho inoteverwa seyakajairika.
Ndedzipi njodzi uye matambudziko eMarfan syndrome panguva yekuzvitakura?
Ngozi huru kuna amai vachange vave kuva ne a aortic dissection, uye kuvhiyiwa nechimbichimbi. Kune "fetus", kana amai vanozove vane dambudziko rakanyanya rerudzi urwu, pane njodzi yekushungurudzika kwe fetus kana kufa. Kana kuongororwa kwe ultrasound kunoratidza njodzi yakakura yeaortic dissection kana kuputika, zvingave zvakakosha kuita chikamu checesarean uye kusununguka mwana nguva isati yakwana.
Marfan syndrome uye pamuviri: ndeipi njodzi iyo mwana anobatwawo?
"Kana mubereki achinge abatwa, njodzi yekuti mwana wega wega abatwe (kana kuti mutakuri wekuchinja) ndeye 1 mu2 (50%), zvisinei nebonde.”, Vanotsanangura Dr Sophie Dupuis Girod.
Iyo genetic mutation yakabatana nechirwere cheMarfan ndeye kwete kutapurirwa nemubereki, inogonawo kuonekwa panguva yekusangana, mumwana uyo pasina vabereki ari mutakuri.
Ko prenatal diagnostics inogona kuitwa here kuziva Marfan syndrome muchibereko?
Kana shanduko ichizivikanwa uye ichizivikanwa mumhuri, zvinokwanisika kuita prenatal diagnosis (PND), kuziva kana fetus inobatwa, kana kunyange pre-implantation diagnosis (PGD) mushure me in vitro fertilization (IVF).
Kana vabereki vasingade kutakura nhumbu kusvika panguva kana mwana akabatwa, uye vachishuvira kuwana nzira yekubvisa nhumbu (IMG) mune iyi kesi, kuongororwa kwepamberi kunogona kuitwa. Asi DPN iyi inopihwa chete nekukumbira kwevaviri ava.
Kana vaviri vacho vachifunga nezveIMG kana mwana asati azvarwa aine Marfan syndrome, faira ravo rinozoongororwa muPrenatal Diagnostic Center (CDPN), izvo zvinoda mvumo. Ndichiri kuziva zvakazara izvozvohazvibviri kuziva kuti mwana asati aberekwa achakuvara zvakadini, chete kana ari mutakuri kana asiri weiyo genetic mutation.
Ko pre-implantation diagnosis ingaitwe here kudzivirira mbereko kuti isakanganiswa?
Kana mumwe wenhengo mbiri dzevaviri ava ari mutakuri weiyo genetic mutation yakabatana neMarfan syndrome, zvinogoneka kuve nekutanga kuongororwa preimplantation, kuitira kuisa muchibereko embryo isingazotakuri.
Zvisineyi, izvi zvinoreva kuita in vitro fertilization uye nekudaro kune nzira yekurapa inobatsirwa kubereka (MAP), iyo yakareba uye inorema mukurapa maitiro kune vaviri.
Pamuviri uye Marfan syndrome: sei kusarudza maternity?
Kubata pamuviri neMarfan syndrome kunoda kuteverwa muchipatara chemadzimai ane ruzivo rwakakwana mukuchengeta vakadzi vane pamuviri vane chirwere ichi. Varipo vese runyoro rwekutumwa kunozvara, rakabudiswa pawebhusaiti marfan.fr.
"Muzvikumbiro zvazvino, panofanira kunge paine nzvimbo ine dhipatimendi rekuvhiya moyo panzvimbo kana iyo aortic dhayamita mukutanga nhumbu yakakura kupfuura 40 mm.”, Inotsanangura Dr Dupuis-Girod.
Ziva kuti hunhu uhu hahunei nerudzi rwekuzvara (I, II kana III), iyo isiri mucherechedzo wekusarudza maternity pano. Muchokwadi, referent maternity yeMarfan syndrome anowanzo mumaguta makuru, uye naizvozvo nhanho II kana kunyange III.
Kubata pamuviri uye Marfan syndrome: tinogona kuva nechirwere chepidural?
"Izvo zvinodikanwa kuti varapi vangangopindira vanonyeverwa, nekuti panogona kunge paine scoliosis kana dural ectasia, ndiko kuti dilation yesaga (dural) ine musana. Iwe unogona kudikanwa kuita MRI kana CT scan kuti uongorore mukana kana kusave ne epidural anesthesia.”, anodaro Dr Dupuis-Girod.
Pregnancy and Marfan Syndrome: Kusununguka kunokonzereswa here kana kuti nekuvhiya?
Mhando yekuendesa ichaenderana, pakati pezvimwe zvinhu, pane aortic dhayamita uye inofanira kukurukurwa zvakare pane imwe nyaya-ne-case hwaro.
“Kana mamiriro emwoyo waamai akagadzikana, kuberekwa hakufanirwe kutorwa semutemo pamberi pemavhiki makumi matatu nemanomwe. Kusununguka kunogona kuitwa kumudzimai kana aortic dhayamita yakagadzikana, isingasviki 40 mm, chero bedzi epidural ichibvira. Rubatsiro rwekudzinga nechisimba kana kapu yekukweva inopihwa zviri nyore kudzikamisa kuedza kwekudzinga. Zvikasadaro kusununguka kuchaitwa nechikamu checesarean, nguva dzose uchichenjerera kudzivirira kusiyana kweropa.”, Inowedzera nyanzvi.
Kwakabva uye rumwe ruzivo:
- https://www.marfan.fr/signes/maladie/grossesse/
- https://www.agence-biomedecine.fr/IMG/pdf/recommandations-pour-la-prise-en-charge-d-une-grossesse-chez-une-femme-presentant-un-syndrome-de-marfan-ou-apparente.pdf
- https://www.assomarfans.fr