I-Marfan syndrome nokukhulelwa: okudingeka ukwazi

I-Marfan syndrome yi-a isifo sofuzo esingandile, enokudluliselwa okunamandla kwe-autosomal, okuthinta kokubili abesifazane nabesilisa. Lolu hlobo lokudluliswa kofuzo lusho ukuthi, “lapho umzali ethintekile, ingozi yengane ngayinye ukuthi ithinteke i-1 ku-2 (50%), kungakhathaliseki ubulili”, Kuchaza uDkt Sophie Dupuis Girod, osebenza e-Marfan Disease and Rare Vascular Diseases Competence Centre, ngaphakathi kwe-CHU de Lyon. Kulinganiselwa ukuthi oyedwa kwabahlanu uyathinteka.

"Kuyisifo esibizwa nge-connective tissue, okungukuthi, izicubu ezisekelayo, ezinokukhubazeka okungathinta izicubu eziningana nezitho eziningana.”, Kuchaza uDkt Dupuis Girod. Kuthinta izicubu ezisekelayo zomzimba, ezikhona ikakhulukazi isikhumba, kanye nemithambo emikhulu, kuhlanganise ne-aorta, engakhula ngobubanzi. Kungase futhi kuthinte imicu ebamba ilensi, futhi kubangele ukugudluka kwelensi.

Abantu abane-Marfan syndrome ababonakali ngaso sonke isikhathi, nakuba kuye kwatholakala ukuthi lezi zivamile mude, oneminwe emide futhi okhuphukile. Bangabonisa ukuguquguquka okukhulu, i-ligament kanye ne-joint hyperlaxity, noma ngisho nama-stretch marks.

Kodwa-ke, kukhona abathwali bokuguquguquka kofuzo abanezimpawu ezimbalwa, futhi abanye ababonisa izimpawu eziningi, ngezinye izikhathi ngaphakathi komndeni ofanayo. Umuntu angafinyelelwa ngobunzima obuguquguqukayo kakhulu.

Ingabe singakucabangela ukukhulelwa nge-Marfan syndrome?

"Isici esibalulekile sesifo sikaMarfan ukugqabuka kwe-aorta: lapho i-aorta ivuleke kakhulu, njengebhaluni elivuthwe kakhulu, kunengozi yokuthi udonga luyoba luncane kakhulu. kanye namakhefu”, Kuchaza uDkt Dupuis-Girod.

Ngenxa yokwanda kokugeleza kwegazi kanye nezinguquko zehomoni ezizibangelayo, ukukhulelwa kuyinkathi eyingozi kubo bonke abesifazane abathintekile. Ngoba lezi zinguquko zingahambisanaukwanda kwengozi yokuvuleka kwe-aorta noma ngisho nokuhlakazeka kwe-aorta kumama okhulelwe.

Uma ububanzi be-aorta bungaphezu kuka-45 mm, ukukhulelwa kuyavinjelwa ngoba ingozi yokufa ngenxa yokuqhuma kwe-aorta iphezulu, kusho uDkt. Dupuis-Girod. Khona-ke ukuhlinzwa kwe-aortic kuyanconywa ngaphambi kokukhulelwa okungenzeka.

Ngaphansi kuka-40 mm ububanzi be-aortic, ukukhulelwa kuvunyelwe, kuyilaphophakathi kuka-40 no-45 mm ububanzi, kufanele uqaphele kakhulu.

Ezincomweni zabo zokulawulwa kokukhulelwa kowesifazane one-Marfan syndrome, i-Biomedicine Agency kanye ne-National College of Gynecologists and Obstetricians of France (CNGOF) icacisa lokho. ingozi ye-aortic dissection ikhona"noma yikuphi ububanzi be-aortic", Kodwa ukuthi le ngozi"kuthathwa njengokuncane lapho ububanzi bungaphansi kuka-40mm, kodwa kubhekwa njengokukhulu ngenhla, ikakhulukazi ngaphezu kuka-45mm".

Lo mbhalo ucacisa ukuthi ukukhulelwa kuvinjelwe uma isiguli:

• Kwethulwa nge-aortic dissection;
• Ine-valve engumshini;
• Inobubanzi be-aortic obungaphezu kuka-45 mm. Phakathi kuka-40 no-45 mm, isinqumo kufanele sithathwe ecaleni ngalinye.

Ukukhulelwa kuhamba kanjani uma une-Marfan syndrome?

Uma umama ethwele i-Marfan syndrome, i-aortic ultrasound eyenziwa udokotela wenhliziyo ojwayelene nalesi sifo kufanele yenziwe ekupheleni kwe-trimester yokuqala, ekupheleni kwe-trimester yesibili, nanyanga zonke phakathi ne-trimester yesithathu, kanye inyanga ngemva kokubeletha.

Ukukhulelwa kumele kuqhubeke ekwelashweni kwe-beta-blocker, ngesilinganiso esigcwele uma kungenzeka (i-bisoprolol 10 mg ngokwesibonelo), ngokubonisana nodokotela wokubelethisa, iphawula i-CNGOF ezincomweni zayo. Lokhu kwelashwa kwe-beta-blocker, okumiselwe vikela i-aorta, akufanele imiswe, kuhlanganise ngesikhathi sokubeletha. Ukuncelisa ibele ke akunakwenzeka ngenxa yokudlula kwe-beta blocker obisini.

Kumele kuqashelwe ukuthi ukwelashwa nge-converting enzyme inhibitor (ACE) noma i-sartan kuyaphikisana ngesikhathi sokukhulelwa.

Uma kuphela oshade naye ethinteka, ukukhulelwa kuzolandelwa njengokukhulelwa okujwayelekile.

Yiziphi izingozi kanye nezinkinga ze-Marfan syndrome ngesikhathi sokukhulelwa?

Ingozi enkulu kumama ozozala iwukuba a ukuhlukaniswa kwe-aortic, kanye nokuhlinzwa okuphuthumayo. Ku-fetus, uma umama ozayo enenkinga enzima kakhulu yalolu hlobo, kukhona ingozi yokucindezeleka noma ukufa kwe-fetus. Uma ukubhekwa kwe-ultrasound kuveza ingozi enkulu yokuhlukaniswa kwe-aortic noma ukuphuka, kungase kudingeke ukuba kwenziwe isigaba sokuhlinzwa futhi ubelethe umntwana ngaphambi kwesikhathi.

I-Marfan Syndrome nokukhulelwa: iyini ingozi yokuthi ingane nayo iyathinteka?

"Lapho umzali ethinteka, ingozi yokuthi ingane ngayinye ithinteke (noma okungenani umthwali woguquko) ingu-1 koku-2 (50%), kungakhathaliseki ukuthi ubulili buni.”, Kuchaza uDkt. Sophie Dupuis Girod.

Uguquko lwezakhi zofuzo oluhlobene nesifo sikaMarfan hhayi ngempela ukudluliselwa umzali, kungase futhi kuvele ngesikhathi sokukhulelwa, enganeni okungekho kubazali abathwele.

Ingabe ukuxilongwa ngaphambi kokubeletha kungenziwa ukuze kuhlonzwe i-Marfan syndrome esibelethweni?

Uma ukuguqulwa kwaziwa futhi kukhonjwa emndenini, kuyenzeka ukuthi kwenziwe ukuxilongwa ngaphambi kokubeletha (PND), ukwazi ukuthi umbungu uthintekile yini, noma ngisho ne-pre-implantation diagnosis (PGD) ngemva kwe-in vitro fertilization (IVF).

Uma abazali bengafisi ukukhulelwa kuze kube sekugcineni uma ingane ithintekile, futhi befisa ukuthola usizo ekunqanyulweni kokukhulelwa ngokwezempilo (IMG) kulesi simo, ukuxilongwa kokukhulelwa kungenziwa. Kodwa le DPN inikezwa kuphela ngesicelo sombhangqwana.

Uma umbhangqwana ucabangela i-IMG uma ingane engakazalwa ine-Marfan syndrome, ifayela labo lizohlaziywa ku-Prenatal Diagnostic Center (CDPN), okuzodinga ukugunyazwa. Nakuba ukwazi kahle lokhoakwenzeki ukwazi ukuthi ungakanani umonakalo ongakazalwa, kuphela uma engumthwali noma engeyena wofuzo.

Ingabe ukuxilonga ngaphambi kokufakelwa kungenziwa ukuze kuvinjwe ukuthi umbungu ungathinteki?

Uma elinye lamalungu amabili ombhangqwana lingumthwali woguquko lofuzo oluxhunywe nesifo i-Marfan, kungenzeka ukuthi kutholwe ukuxilongwa ngaphambi kokufakelwa, ukuze kufakwe esibelethweni umbungu ongeke uthwale.

Kodwa-ke, lokhu kusho ukungenela i-in vitro fertilization kanjalo nasenkambweni yokuzala okusizwa ngokwemithi (MAP), inqubo ende nesindayo ngokwezokwelapha yombhangqwana.

Ukukhulelwa kanye Marfan syndrome: indlela yokukhetha womama?

Ukukhulelwa okune-Marfan syndrome kudinga ukulandelelwa esibhedlela sokubeletha lapho izisebenzi zinolwazi lokunakekela abesifazane abakhulelwe abanalesi sifo. Bakhona bonke uhlu lokubeletha okudluliselwa, eshicilelwe kuwebhusayithi marfan.fr.

"Ezincomweni zamanje, kufanele kube nesikhungo esinomnyango wokuhlinza inhliziyo esizeni uma ububanzi be-aortic ekuqaleni kokukhulelwa bungaphezu kuka-40 mm.”, Icacisa uDkt Dupuis-Girod.

Qaphela ukuthi lokhu kucaciswa akuhlangene nhlobo nohlobo lokubeletha (I, II noma III), okungewona umbandela wokukhetha ukubeletha lapha. Emaqinisweni, Izimpawu zokubeletha ezibhekiswe ku-Marfan syndrome ngokuvamile basemadolobheni amakhulu, ngakho-ke izinga II noma III.

Ukukhulelwa kanye ne-Marfan syndrome: singaba ne-epidural?

"Kudingekile ukuthi odokotela ababulala izinzwa okungenzeka bangenele bayaxwayiswa, ngoba kungase kube khona i-scoliosis noma i-ectasia yangasese, okusho ukuvuleka kwesaka (dural) eliqukethe intambo yomgogodla. Kungase kudingeke wenze i-MRI noma i-CT scan ukuze uhlole ukuthi kungenzeka yini noma ungabi ne-epidural anesthesia”, kusho uDkt Dupuis-Girod.

Ukukhulelwa kanye ne-Marfan syndrome: ingabe ukubeletha kuqalwa ngempela noma ngokuhlinzwa?

Uhlobo lokulethwa luzoncika, phakathi kwezinye izinto, kububanzi be-aortic futhi kufanele kuxoxwe futhi ngesisekelo secala necala.

“Uma isimo senhliziyo kamama sizinzile, ukubeletha akufanele kuthathwe njengomthetho ngaphambi kwamasonto angu-37. Ukubeletha kungenziwa esithweni sangasese sowesifazane uma ububanzi be-aorta buzinzile, ngaphansi kuka-40 mm, inqobo nje uma kungenzeka i-epidural. Usizo lokuxoshwa ngama-forceps noma inkomishi yokumunca luzonikezwa kalula ukuze kukhawulwe imizamo yokuxoshwa. Uma kungenjalo ukubeletha kuzokwenziwa ngokuhlinzwa, njalo uqikelela ukugwema ukuhlukahluka komfutho wegazi.”, Kwengeza uchwepheshe.

Imithombo nolwazi olwengeziwe:

• 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