ʻO Marfan Syndrome a me ka hāpai ʻana: he aha kāu e ʻike ai

ʻO ka maʻi maʻi ʻo Marfan kahi ka maʻi maʻi laʻa, me ka autosomal dominant transmission, e pili ana i na wahine a me na kane. ʻO kēia ʻano o ka hoʻoili genetic ʻo ia hoʻi, "ke pilikia ka makua, he 1 i ka 2 (50%) ka pilikia o kēlā me kēia keiki., me ka nānā ʻole i ke kāne”, wehewehe ʻo Dr Sophie Dupuis Girod, ka mea hana ma ka Marfan Disease and Rare Vascular Diseases Competence Center, i loko o ka CHU de Lyon. Ua manaʻo ʻia he hoʻokahi o 5 mau kānaka i hoʻopilikia ʻia.

"He maʻi ia i kapa ʻia ʻo ka ʻiʻo hoʻohui, ʻo ia hoʻi, nā ʻiʻo kākoʻo, me kahi pōʻino e hiki ke hoʻopilikia i kekahi mau ʻiʻo a me kekahi mau ʻano.”, wehewehe ʻo Dr Dupuis Girod. Hoʻopilikia ia i nā ʻiʻo kākoʻo o ke kino, aia i loko ka ʻili, a me nā ʻaʻaʻa nui, me ke aorta, hiki ke hoʻonui i ke anawaena. Hiki iā ia ke hoʻopili i nā fibers e paʻa ana i ka lens, a e hoʻoneʻe i ka lens.

ʻAʻole ʻike mau ʻia ka poʻe me ka maʻi maʻi Marfan, ʻoiai ua ʻike ʻia he pinepine kēia kiʻekiʻe, me nā manamana lima lōʻihi a ʻoi aku ka wiwi. Hiki iā lākou ke hōʻike i ka loli nui, ligament a me ka hyperlaxity hui, a i ʻole nā ​​kiko kiko.

Eia nō naʻe, aia kekahi poʻe lawe i ka genetic mutation he liʻiliʻi nā hōʻailona, ​​​​a ʻo nā mea ʻē aʻe e hōʻike i nā hōʻailona he nui, i kekahi manawa i loko o ka ʻohana hoʻokahi. Hiki ke kiʻi ʻia me kahi ʻano nui o ka ʻeha.

Hiki iā mākou ke noʻonoʻo i ka hāpai ʻana me Marfan Syndrome?

"ʻO ka mea koʻikoʻi o ka maʻi ʻo Marfan ka haki ʻana o ke aorta: i ka wā i hoʻomāhuahua nui ʻia ke aorta, e like me ka baluna i hoʻonui nui ʻia, aia ka pilikia o ka lahilahi o ka pā. a haki”, wehewehe ʻo Dr Dupuis-Girod.

Ma muli o ka piʻi ʻana o ke kahe o ke koko a me ka hoʻololi ʻana o ka hormonal, ʻo ka hāpai ʻana he wā pilikia ia no nā wahine āpau. No ka mea hiki ke hele pū ʻia kēia mau lolika piʻi nui ʻana o ka dilation o ka aorta a i ʻole ka wehe ʻana o ke aorta i ka makuahine hāpai.

Ke ʻoi aku ka nui o ke anawaena o ka aortic ma mua o 45 mm, ʻaʻole ʻae ʻia ka hāpai ʻana no ka mea he kiʻekiʻe ka pilikia o ka make mai ka ʻāʻī ʻana, wahi a Kauka Dupuis-Girod. A laila ʻōlelo ʻia ke ʻoki aortic ma mua o ka hiki ke hāpai ʻia.

Ma lalo o 40 mm i ke anawaena aortic, ua ʻae ʻia nā hāpai ʻana, ʻoiaima waena o 40 a me 45 mm ke anawaena, pono ʻoe e makaʻala loa.

I kā lākou mau ʻōlelo aʻoaʻo no ka mālama ʻana i ka hāpai ʻana i kahi wahine me ka maʻi maʻi Marfan, ʻo ka Biomedicine Agency a me ka National College of Gynecologists and Obstetricians of France (CNGOF) e kuhikuhi i kēlā. ka pilikia o ka ʻoki ʻana o ka aortic aia "ʻo ke ʻano o ke anawaena aortic", Akā ʻo kēia pilikia"Ua manaʻo ʻia he liʻiliʻi ke emi iho ke anawaena ma mua o 40mm, akā manaʻo ʻia he nui ma luna, ʻoi aku ma luna o 45mm".

Hōʻike ka palapala i ka contraindicated ka hāpai ʻana inā ʻo ka mea maʻi:

• Hōʻike ʻia me ka ʻoki ʻana aortic;
• Loaʻa i ka valve mechanical;
• Loaʻa ka anawaena aortic ma mua o 45 mm. Ma waena o 40 a me 45 mm, e hoʻoholo ʻia ka hoʻoholo i kēlā me kēia hihia.

Pehea e hele ai ka hāpai ʻana inā loaʻa iā ʻoe ka maʻi maʻi Marfan?

Inā he maʻi maʻi ʻo Marfan ka makuahine, pono e hana ʻia kahi ultrasound aortic e ka cardiologist i kamaʻāina i ka maʻi ma ka hopena o ka trimester mua, ma ka hopena o ka lua o ka trimester, a i kēlā me kēia mahina i ke kolu o ka trimester, a me he mahina ma hope o ka hānau ʻana.

Pono e hoʻomau ka hāpai ʻana ma ka beta-blocker therapy, i ka piha piha inā hiki (bisoprolol 10 mg no ka laʻana), ma ke kūkākūkā me ka obstetrician, e hoʻomaopopo i ka CNGOF i kāna mau ʻōlelo aʻoaʻo. ʻO kēia lāʻau beta-blocker, kuhikuhi ʻia no pale i ke aorta, ʻaʻole pono e hoʻōki, me ka wā o ka hānau ʻana. ʻAʻole hiki ke hānai ʻia ma muli o ka hele ʻana o ka beta blocker i ka waiū.

Pono e hoʻomaopopo ʻia ʻo ka mālama ʻana me ka mea hoʻohuli i ka enzyme inhibitor (ACE) a i ʻole sartans i contraindicated i ka wā hāpai.

Inā pili wale ka wahine, e hahai ʻia ka hāpai ʻana e like me ka hāpai maʻamau.

He aha nā pilikia a me nā pilikia o Marfan Syndrome i ka wā hāpai?

ʻO ka pilikia nui no ka makuahine e loaʻa i kahi a dissic dissection, a pono e hana i ke oki ulia pōpilikia. No ka'ōpiopio, inā he pilikia koʻikoʻi ka makuahine o kēia ʻano, aia he pilikia o ka pilikia o ke keiki a make paha. Inā hōʻike ka nānā ʻana i ka ultrasound i kahi pilikia nui o ka ʻoki aortic a i ʻole ka haki ʻana, pono paha e hana i ka ʻāpana cesarean a hoʻopuka i ke pēpē ma mua o ka manawa.

ʻO ka maʻi maʻi Marfan a me ka hāpai ʻana: he aha ka pilikia e pili pū ai ke keiki?

"Ke pilikia ka makua, he 1 i ka 2 (50%) ka pilikia o kēlā me kēia keiki (a i ʻole ka mea lawe i ka hoʻololi ʻana) me ka ʻole o ke kāne.”, wehewehe ʻo Dr Sophie Dupuis Girod.

ʻO ka mutation genetic pili i ka maʻi o Marfan ʻaʻole pono i lawe ʻia e ka makua, Hiki ke ʻike ʻia i ka manawa o ka hoʻoulu ʻana, i kahi keiki ʻaʻole o nā mākua i lawe.

Hiki ke hana ʻia kahi maʻi prenatal e ʻike ai i ka maʻi Marfan i loko o ka ʻōpū?

Inā ʻike ʻia ka hoʻololi ʻana a ʻike ʻia i loko o ka ʻohana, hiki ke hana i kahi maʻi prenatal (PND), e ʻike inā pili ka pēpē, a i ʻole kahi maʻi pre-implantation (PGD) ma hope o ka in vitro fertilization (IVF).

Inā ʻaʻole makemake nā mākua e hāpai i ka hāpai ʻana a hiki i ka wā i hoʻopilikia ʻia ke keiki, a makemake lākou e hoʻi i ka hoʻopau lāʻau o ka hāpai ʻana (IMG) i kēia hihia, hiki ke hana i kahi maʻi prenatal. Akā hāʻawi ʻia kēia DPN ma ke noi a nā kāne.

Inā noʻonoʻo ka kāne i kahi IMG inā loaʻa i kahi keiki i hānau ʻole ʻia i ka maʻi Marfan, e nānā ʻia kā lākou faila ma ka Prenatal Diagnostic Center (CDPN), e koi ʻia ai ka ʻae. ʻOiai e ʻike pono ana i kēlāʻaʻole hiki ke ʻike i ka nui o ka pōʻino o ke keiki hānau ʻole, inā he mea lawe a ʻaʻole ʻo ia i ka mutation genetic.

Hiki ke hana ʻia kahi maʻi ma mua o ka hoʻokomo ʻana i mea e pale ai i ka ʻeha o ka pēpē?

Inā ʻo kekahi o nā lālā ʻelua o ka male ka mea lawe i ka genetic mutation pili i ka maʻi maʻi Marfan, hiki ke loaʻa hou i ka maʻi preimplantation, i mea e hoʻokomo ai i loko o ka ʻōpū i kahi embryo ʻaʻole ia e lawe.

Eia nō naʻe, e pili ana kēia i ka hele ʻana i ka in vitro fertilization a no laila i ke ʻano o ka hānau ʻana i kōkua ʻia e ka lāʻau lapaʻau (MAP), kahi kaʻina hana lōʻihi a kaumaha no ka male.

ʻO ka hānauʻana a me ka maʻi Marfan: pehea e koho ai i ka makuahine?

ʻO ka hāpai ʻana me ka maʻi maʻi Marfan e pono ai ka hahai ʻana i kahi haukapila hānai kahi i ʻike ai nā limahana i ka mālama ʻana i nā wahine hāpai me kēia maʻi. Aia nā mea a pau he papa inoa o nā hānai hānai, paʻi ʻia ma ka pūnaewele marfan.fr.

"I nā ʻōlelo aʻoaʻo o kēia manawa, pono e loaʻa kahi kikowaena me kahi keʻena ʻokoʻa naʻau ma ka pūnaewele inā ʻoi aku ka nui o ke anawaena aortic i ka wā hāpai mua ma mua o 40 mm.”, E wehewehe ana iā Dr Dupuis-Girod.

E hoʻomaopopo ʻaʻole pili kēia kikoʻī i ke ʻano o ka makuahine (I, II a i ʻole III), ʻaʻole ia he criterion no ke koho ʻana i ka maternity ma aneʻi. I ka ʻoiaʻiʻo, nā maternities kuhikuhi no Marfan syndrome Aia ma nā kūlanakauhale nui, a no laila ka pae II a i ʻole III.

ʻO ka hāpai ʻana a me ka maʻi maʻi Marfan: hiki iā mākou ke loaʻa kahi epidural?

"Pono e aʻo ʻia ka poʻe maʻi anesthetic e komo, no ka mea hiki ke loaʻa ka scoliosis a i ʻole ka dural ectasia, ʻo ia hoʻi ka dilation o ka sac (dural) i loko o ke kuamoʻo. Pono paha ʻoe e hana i kahi MRI a i ʻole CT scan e loiloi i ka hiki a i ʻole ka loaʻa ʻana o ka anesthesia epidural”, wahi a Dr Dupuis-Girod.

ʻO ka hāpai ʻana a me ka maʻi maʻi ʻo Marfan: ua hoʻomaka ʻia ka hānau ʻana a i ʻole ma ka ʻāpana cesarean?

E hilinaʻi ke ʻano o ka lawe ʻana, ma waena o nā mea ʻē aʻe, ma ke anawaena aortic a pono e kūkākūkā hou ʻia i kēlā me kēia hihia.

"Inā paʻa ke kūlana naʻau o ka makuahine, ʻaʻole pono e noʻonoʻo ʻia ka hānau ʻana ma mua o 37 mau pule. Hiki ke hana i ka hānau keiki ma ka waha inā paʻa ke anawaena aortic, emi iho ma lalo o 40 mm, me ka hiki ke hana epidural. E hāʻawi maʻalahi ʻia kahi kōkua kipaku ʻia e ka forceps a i ʻole ke kīʻaha hoʻoheheʻe e kaupalena i nā hana kipaku. A i ʻole, e hana ʻia ka hānau ʻana ma ka ʻāpana cesarean, e mālama mau i ka pale ʻana i nā ʻano like ʻole o ke koko.”, Hoʻohui i ka loea.

Nā kumu a me nā ʻike hou aku:

• 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