Makemake ʻoe e ʻike e pili ana i ka Marfan Syndrome? E kamaʻilio kākou!

Ua ʻike anei ʻoe he ʻoi aku ke kiʻekiʻe o kekahi poʻe ma mua o kekahi, ʻoi aku ka lōʻihi o ko lākou mau lālā, nā manamana lima, a pēlā aku ma mua o ka maʻamau? A i ʻole he ʻano ʻē ko lākou o ka umauma, a i ʻole he mau pilikia ʻike? I kekahi manawa, me kēia mau hōʻailona, ​​hiki ke loaʻa kekahi mau pilikia me ka puʻuwai a me nā maka. ʻO ia ke ʻano o ka Marfan Syndrome. He maʻi genetic kēia. Mai hopohopo, e kamaʻilio kākou e pili ana i kēia me nā kikoʻī hou aku.

He aha ka Marfan Syndrome? I ka pōkole...

I ka ʻōlelo maʻalahi, ʻo ka Marfan Syndrome kahi maʻi genetic e hoʻopilikia ana i nā ʻiʻo pili i loko o ko mākou kino. I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o nā ʻiʻo pili. E noʻonoʻo e pili ana i ia mea, ʻo ka ʻiʻo pili kahi ʻano ʻiʻo kūikawā e hoʻopili ana i nā ʻāpana like ʻole o ko mākou kino, e like me ka ʻili, nā iwi, nā kīʻaha koko, a me nā valves puʻuwai, a kōkua i ka hāʻawi ʻana iā lākou i ka ikaika a me ka maʻalahi.

I loko o ke kanaka me ka Marfan syndrome, ua nāwaliwali iki kēia ʻiʻo hoʻohui, a ua palupalu loa . Ua like ia me ke kaula laholio, akā ʻaʻole ikaika. ʻO ia ke kumu e hiki ai i kēia kūlana ke hoʻopilikia i nā ʻōnaehana like ʻole o ke kino. Hiki iā ia ke hoʻopilikia nui i ka puʻuwai, nā kīʻaha koko, nā maka, nā iwi a me nā hono .

Ua kapa nā kauka i kēia he ʻano maʻi hoʻoilina me ka "variable expression." ʻO ke ʻano kēia, ʻaʻole e loaʻa i nā kānaka a pau me ka maʻi nā hōʻailona like. ʻAʻole loaʻa i kekahi poʻe nā hōʻailona, ​​aʻo kekahi poʻe e loaʻa hou aku. A ʻo ka manawa e pono ai e ʻike ʻia ai nā hōʻailona e ʻokoʻa mai kēlā kanaka a kēia kanaka.

ʻO ka maʻi Marfan kahi maʻi i loaʻa i ka wā hānau . Eia nō naʻe, i kekahi manawa e ʻike ʻia nā hōʻailona a hiki paha iā ʻoe ke lilo i ʻōpio a ʻelemakule paha i ka wā e ʻike ʻia ai ʻoe. ʻO ia kekahi o nā maʻi pili pili i hoʻoilina maʻamau. Hoʻopilikia ia ma kahi o hoʻokahi i loko o 3,000 a 5,000 mau kānaka.

He aha nā hōʻailona o kēia?

ʻElua mau hiʻohiʻona nui o ka maʻi Marfan. ʻO kekahi he aneurysm aʻa aortic (aortic root aneurysm) . He puʻupuʻu a i ʻole ka hoʻonui ʻia ʻana o ke kīʻaha koko nui e lawe ana i ke koko mai ko kākou puʻuwai i ke kino (ka aorta). ʻO kekahi he lens maka i hemo (ectopia lentis) .

Hiki i kēia mau ʻano nui ʻelua ke hōʻike i nā hōʻailona e like me:

• ʻO ka palpitations o ka puʻuwai ka manaʻo o ka wikiwiki o ka puʻuwai a me ke kuʻi ʻana o kou umauma.
• Ke manaʻo nei i kou puʻuwai e kuʻi nui ana a wikiwiki hoʻi.
• ʻEha maka.
• Paʻakikī ka hanu ʻana.
• Nā loli o ka ʻike; no ka laʻana, ka astigmatism a me ka ʻike kokoke loa.

Akā no ka mea hiki i ka maʻi Marfan ke hoʻopilikia i nā ʻāpana ʻē aʻe o ke kino, hiki ke loaʻa nā hōʻailona ʻē aʻe. Eia kekahi laʻana, hiki i nā hōʻailona kino ke komo pū me:

• Hiki ke ʻano he ʻano loloa iki a ololi paha ka helehelena.
• ʻIke ʻia nā lima, nā wāwae, a me nā manamana lima he lōʻihi loa ia ma mua o nā ʻāpana ʻē aʻe o ke kino.
• ʻO nā niho paʻapū, ʻo ia nā niho i huki ʻia a me he mea lā ua hoʻomoe ʻia kekahi ma luna o kekahi.
• ʻO ke skoliosis.
• Nā wāwae pālahalaha.
• Ka nāwaliwali a me ka maʻalahi o ka hoʻoneʻe ʻana o nā hono.
• ʻIke ʻia nā māka kīkoʻo ma ka ʻili ʻoiai inā ʻaʻole loli nui ke kaumaha o ke kino.
• He pahu poho (pectus excavatum) a i ʻole ka pahu puka (pectus carinatum).
• Kino kiʻekiʻe a wiwi.

He aha nā pilikia o kēia maʻi?

Hiki i ka Marfan syndrome ke hoʻopilikia i nā pilikia like ʻole e hoʻopilikia ai i kou puʻuwai, maka, a me nā māmā.

ʻO nā pilikia cardiovascular nā pilikia maʻamau o ka maʻi Marfan. Hiki i kēia mau mea ke komo pū me:

• ʻO ka ʻoki ʻana o ke aorta: He haehae kēia i loko o ka papa o loko o ka paia o kou aorta. He pilikia kēia.
• ʻO ka maʻi valve puʻuwai: Hiki i ka Marfan syndrome ke hoʻonāwaliwali a maʻalahi hoʻi ke ʻano o ka ʻiʻo i loko o nā valves puʻuwai.
• Puʻuwai i hoʻonui ʻia: I ka hala ʻana o ka manawa, hiki i kou puʻuwai ke hoʻonui a nāwaliwali.
• Nā hewa o ka puʻuwai (Arrhythmia): Hoʻopili pinepine ʻia kēia ʻano me ka mitral valve prolapse.
• Nā aneurysms o ka lolo: He pehu ʻana o kahi nāwaliwali i loko o kahi kīʻaha koko i loko a puni paha o ka lolo.

Hiki i nā pilikia maka ke komo pū me:

• Nā katarata.
• Ke kūlana glaucoma.
• Ka hemo ʻana o ka retina.

ʻO nā loli i loko o nā ʻiʻo māmā e pili ana me ka Marfan syndrome e hoʻonui i ka pilikia o:

• ʻO ka hānō.
• Ka maʻi bronchitis.
• Ka maʻi pulmonary obstructive mau loa (COPD).
• Pūmāmā hiolo / pneumothorax.
• ʻEmphysema.
• Pneumonia.

He aha ke kumu o ka Marfan syndrome?

Hoʻokumu ʻia kēia e kahi ʻano hoʻoilina . ʻO ke kikoʻī, kahi loli i loko o kahi gene - ka gene FBN1 - e haʻi ana i kā mākou mau cell e hana i kahi protein i kapa ʻia ʻo fibrillin . ʻO kēia fibrillin kahi ʻāpana nui o nā olonā elastic i loko o kā mākou mau ʻiʻo hoʻopili.

I ka hapanui o nā hihia, ʻo ka maʻi Marfan kahi maʻi i hoʻoilina ʻia mai kekahi o nā mākua . He hoʻoilina autosomal dominant kēia.He maʻi i hoʻoilina ʻia. ʻO ia hoʻi, hiki ke hana ʻia ke kūlana ma ka hoʻoilina ʻana i ka gene mai kekahi makua. He 50% ka manawa kūpono o ka mea me ka Marfan syndrome e hoʻoili i ka maʻi i kēlā me kēia o kā lākou mau keiki.

Eia nō naʻe, ma kahi o 25% o nā hihia, hiki ke kū mai kēia ʻano ma muli o kahi loli genetic hou (ʻaʻole hiki ke ʻike ʻia ke kumu), me ka ʻole o ka mōʻaukala ʻohana.

Pehea e ʻike ai nā kauka i ka Marfan syndrome?

Ma muli o ka hoʻopilikia ʻana o ka maʻi Marfan i nā ʻano ʻokoʻa like ʻole o ke kino, pono paha ʻoe i ke kōkua o kahi hui o nā loea e ʻike i ke kūlana a hoʻomohala i kahi hoʻolālā lapaʻau.

ʻO ka mea mua, hana nā kauka i kēia mau mea:

• E nīnau e pili ana i kou mōʻaukala olakino.
• E hana ʻia kahi hoʻokolohua kino e ʻike ai inā he mau hōʻailona maʻamau o ka maʻi.
• Ke nīnau nei e pili ana i kāu mau hōʻailona.
• E nīnau inā ua loaʻa i kekahi o ka ʻohana nā pilikia olakino e pili ana i ka Marfan syndrome.

Hoʻohana pinepine nā kauka i kahi hoʻonohonoho o nā pae i kapa ʻia ʻo "Ghent nosology" e ʻike ai i ka maʻi Marfan. Hiki ke ʻōlelo ʻia nā hoʻokolohua aʻe e hōʻoia i ka hōʻailona a i ʻole e kāpae i nā kūlana like ʻē aʻe:

• ʻO ke kiʻi CT `(Computered tomography - CT scan)`.
• X-ray umauma.
• Hoʻāʻo E.C.G. `(Electrocardiogram - ECG)`.
• ʻEchocardiogram.
• MRI scan (kiʻi resonance magnetic - MRI)

Hiki i kahi hoʻāʻo genetic (he hoʻāʻo koko kēia) ke nānā i nā loli i loko o ka gene FBN1, ka mea i kuleana pinepine no ka Marfan syndrome. Eia nō naʻe, ʻaʻole maopopo mau nā hopena o kēia mau hoʻāʻo genetic. Hiki i kēia hoʻāʻo ke nānā i nā kūlana genetic ʻē aʻe e hoʻoulu ai i nā hōʻailona like, e like me ka Loeys-Dietz syndrome.

Pehea e mālama ʻia ai ka Marfan syndrome?

ʻAʻohe lāʻau lapaʻau no ka Marfan syndrome. Eia nō naʻe, aia nā ʻano lapaʻau like ʻole a me nā ʻano hana e hiki ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona a pale i nā pilikia. ʻO kēia mau mea:

• Nā lāʻau lapaʻau.
• Ka nānā ʻana i nā lāʻau lapaʻau maʻamau.
• Alakaʻi hana kino.
• ʻOki kino.

Pono ʻoe i kahi hoʻolālā lapaʻau e pili pono ana i kou mau pilikia olakino.

Nā lāʻau lapaʻau

Hiki i kekahi mau lāʻau lapaʻau ke kōkua i ka pale ʻana a i ʻole ka kaohi ʻana i nā pilikia:

• Nā mea pale Beta: Kāohi kēia i ka hoʻonui ʻia ʻana o nā aʻa nui. Paipai nā kauka e hoʻomaka i kēia lāʻau lapaʻau i ka wā hikiwawe loa no ka poʻe me ka Marfan syndrome. Inā ʻaʻole hiki iā ʻoe ke lawe i kēia mau mea ma muli o kahi kūlana e like me ka hānō a i ʻole ma muli o nā hopena ʻaoʻao, hiki i kāu kauka ke hāʻawi iā ʻoe i kahi mea pale calcium channel .
• Nā mea pale i ka mea loaʻa Angiotensin II (ARBs):Hiki i kēia mau lāʻau lapaʻau ke kōkua i ka hoʻolohi i ka wikiwiki o ka hoʻonui ʻana o ka ʻōpū nui.

Inā loaʻa iā ʻoe ke ʻoki ʻana i ka valve o ka puʻuwai ma muli o ka Marfan syndrome, pono ʻoe e lawe i ka lāʻau anticoagulant no ke koena o kou ola.

Ka nānā mau ʻana i ke kauka

Pono ʻoe e hana mau i nā hoʻokolohua olakino no kēia mau mea:

• ʻO ka puʻuwai a me nā kīʻaha koko - ʻoiai ka nui o kou diaphragm nui.
• Nā maka.
• ʻŌnaehana iwi.

Ma kēia ʻano, hiki i kāu hui lapaʻau ke nānā i nā loli a ʻike i nā pilikia hiki ke hiki i ka wā mua. E haʻi lākou iā ʻoe i ka pinepine o kou hele ʻana mai no kēia mau hoʻokolohua.

ʻO ka maʻamau, hoʻokomo kēia nānā ʻana i nā hoʻokolohua kiʻi e like me:

• Nā scan CT.
• Nā Echocardiograms.
• Nā kiʻi MRI.

Alakaʻi hana kino

Hiki i ka hana kino ikaika a koʻikoʻi ke kau i ke kaomi ma kou diaphragm a me nā ʻiʻo pili ʻē aʻe i hoʻopilikia ʻia e ka Marfan syndrome. No laila, pono ʻoe e hana pū me kahi mea hoʻoponopono kino e ʻimi i nā hoʻoikaika kino a me nā haʻuki palekana e kūpono iā ʻoe.

ʻŌlelo pinepine nā kauka i ka hoʻoikaika kino haʻahaʻa a kaulike, akā inā ua hana ʻia ʻoe i ke ʻoki ma kāu valve mitral a i ʻole nā ​​​​aʻa valve, pono paha ʻoe e hoʻoikaika kino ma kahi pae haʻahaʻa.

Ma keʻano laulā, pono ʻoe e pale i nā mea e like me:

• Nā hana e pili ana i ka paʻa ʻana i kou hanu a me ka hoʻoikaika ikaika ʻana (Valsalva maneuver).
• Nā haʻuki pili.
• Hoʻoikaika kino a luhi.
• ʻO nā hoʻomaʻamaʻa e pili ana i ka paʻa ʻana i hoʻokahi kūlana no ka manawa lōʻihi, e like me nā papa a me nā noho ma ka paia, ua kapa ʻia ʻo nā hoʻomaʻamaʻa isometric.

ʻO ke ʻoki puʻuwai

ʻO nā pahuhopu nui o ke ʻoki puʻuwai no ka maʻi Marfan ʻo ia ka pale ʻana i kou valve aortic mai ka hoʻonui ʻana a i ʻole ka haki ʻana a me ka mālama ʻana i nā pilikia valve. E hoʻoholo pū ʻoe a me kāu hui lapaʻau inā pono ʻoe i ke ʻoki ʻana, ma hope o ka noʻonoʻo ʻana i kekahi mau kumu.

ʻO kēia nā hana ʻokiʻoki a me nā kaʻina hana maʻamau i hana ʻia no ka Marfan syndrome:

• Ka hoʻoponopono a i ʻole ke pani ʻana o ka valve aortic.
• Hoʻoponopono ʻana i ka aneurysm aortic piʻi.
• Ka hoʻoponopono a i ʻole ke pani ʻana o ka valve mitral.
• Hoʻoponopono ʻia ka aorta endovascular thoracic.

Inā pono ʻoe i ke ʻoki kino, e hoʻāʻo e koho i kahi haukapila nui i loaʻa ka ʻike me ke ʻano o ke ʻoki kino āu e hana nei. Pono hoʻi kāu hui ʻoki kino e ʻike maikaʻi i ka Marfan syndrome.

He aha kāu e manaʻo ai i kou wā e noho ana me ka Marfan syndrome?

Inā loaʻa iā ʻoe ka Marfan syndrome, pono ʻoe e loaʻa nā manawa lapaʻau maʻamau a e makaʻala i kou kino. ʻAʻole like ka hopena o ka Marfan syndrome i nā kānaka a pau, no laila e kū hoʻokahi kāu huakaʻi me kēia maʻi iā ʻoe. E kōkua kāu hui lapaʻau iā ʻoe e hoʻololi i nā loli i kou kūlana.

E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia mau ka hui lapaʻau me ʻoe.

Ma muli o ka hoʻonui ʻia ʻana o ka ʻike e pili ana i ka Marfan syndrome a me nā lāʻau lapaʻau i hoʻomaikaʻi ʻia, ʻoi aku ka lōʻihi o ke ola o ka poʻe me ka Marfan syndrome ma mua o ka makahiki 1970. ʻO ke ola o kekahi me ka Marfan syndrome ua aneane like ia me ka mea me ka ʻole o ke ʻano. Eia nō naʻe, ʻoi aku ka pōkole o ke ola o nā kāne ma mua o nā wahine.

ʻO ka maʻi cardiovascular ke kumu nui o ka make ma ka maʻi Marfan. He ʻoiaʻiʻo loa kēia no nā make koke e kū mai ana i ka wā ʻike ʻole ʻia ai ka maʻi. ʻOi aku ka kiʻekiʻe o ka pilikia i ka poʻe i loaʻa ka hōʻailona lohi.

ʻO ka Marfan syndrome a me ke olakino noʻonoʻo

Aia kekahi mau mea e hiki ke hoʻopilikia i kou olakino noʻonoʻo a me ke ʻano o ke ola ke noho me ka Marfan syndrome. Eia kekahi laʻana:

• He maʻi mau loa ka Marfan syndrome a pono e mālama ʻia no ke ola holoʻokoʻa.
• Pehea e pili ai kēia kūlana i kou helehelena.
• ʻEha mau a me ka luhi.
• Nā kapu i ka hana kino (hoʻopilikia pinepine kēia i nā pilina pili kanaka).
• Ke kaomi o ka hoʻolālā ʻohana.

Ma muli o kēia, ʻoi aku ka nui o kou pilikia no nā mea e like me:

• Hopohopo.
• Kaumaha.
• Ke ʻike nei i ka hoʻomāinoino ʻia e haʻi.
• Ka noho kaʻawale ʻana o ka nohona.

Hiki i nā mea mālama a me nā ʻohana o ka poʻe me Marfan syndrome ke pilikia i ka hoʻomohala ʻana i kēia mau pilikia olakino noʻonoʻo.

Ua like ke koʻikoʻi o kou olakino noʻonoʻo me kou olakino kino.

Inā ʻoe e hopohopo nei ma muli o ka Marfan syndrome, mai poina e ʻimi i ke kōkua mai kahi loea olakino noʻonoʻo, e like me ke kauka noʻonoʻo . Hiki paha iā ʻoe ke ʻike he mea kōkua ke komo ʻana i kahi hui kākoʻo.

Hiki i ke ola me ka maʻi Marfan ke like me ka puka e wili ana o nā manawa i koho ʻia, nā lāʻau lapaʻau, a me nā loli o ke ʻano o ka nohona. Akā, kōkua kēlā me kēia hoʻāʻo a me kēlā me kēia manawa iā ʻoe e pale aku i nā pilikia mai ka maʻi Marfan a ola i ke ola olakino e like me ka hiki. Aia pū kāu hui lapaʻau me ʻoe ma o nā mea āpau. E kiʻi i kā lākou kākoʻo a me ke alakaʻi. Inā manaʻo ʻoe ua kaumaha ʻoe i kēia mau mea a pau, e ʻimi i ke kōkua mai kahi loea olakino noʻonoʻo.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, e nānā kākou i kekahi o nā kumu nui e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai:

• ʻO ka Marfan syndrome kahi maʻi genetic., hoʻopilikia ia i nā ʻiʻo pili o ko mākou kino.
• Hiki i kēia ke hoʻopilikia i nā wahi like ʻole e like me ka puʻuwai, nā maka, a me nā iwi. He mea nui loa ka loaʻa ʻana o nā hoʻokolohua lapaʻau maʻamau .
• ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, aia nā lāʻau lapaʻau maikaʻi e kāohi i nā hōʻailona a pale i nā pilikia.
• E hahai pono i nā ʻōlelo a kāu kauka. E lawe i kāu mau lāʻau lapaʻau i ka manawa kūpono a e loaʻa nā hoʻokolohua i ʻōlelo ʻia iā ʻoe.
• Pono ʻoe e makaʻala loa i ka wā e hana ai i nā hana kino. E nīnau i kāu kauka a mea hoʻoponopono kino paha i nā hoʻoikaika kino kūpono iā ʻoe.
• E mālama pū i kou olakino noʻonoʻo. Mai kānalua e ʻimi i ke kōkua inā pono ʻoe.
• ʻAʻole ʻoe hoʻokahi, loaʻa iā ʻoe kahi hui lapaʻau, ʻohana, a me nā hoaaloha e kōkua iā ʻoe.

Manaʻolana wau he mea kōkua kēia ʻike iā ʻoe. Inā he mau nīnau hou aku kāu, mai kānalua e nīnau i kāu kauka.

ʻO ka Marfan Syndrome, ka maʻi genetic, nā ʻiʻo pili, ka maʻi puʻuwai, nā iwi, nā maka, fibrillin