Kei te hiahia koe ki te mōhio mō te Marfan Syndrome? Me kōrero tāua!

Kua kite koe i ētahi tāngata he roa ake i ētahi atu, ā, ko ō rātou waewae, maihao, me ētahi atu, te āhua nei he roa ake i te tikanga? He āhua rerekē rānei tō rātou uma, he raruraru tirohanga rānei? I ētahi wā, me ēnei tohu, ka puta mai ētahi raruraru ki te ngākau me ngā kanohi. Koinei te Marfan Syndrome. He mate ira tēnei. Kaua e manukanuka, me kōrero tātou mō tēnei mea me ētahi atu taipitopito.

He aha te Marfan Syndrome? He māmā noa iho...

He whakarāpopototanga noa iho, ko te Marfan Syndrome he mate ira e pā ana ki te kiko honohono o roto i ō tātou tinana. Tērā pea kei te whakaaro koe he aha te kiko honohono. Whakaarohia, ko te kiko honohono he momo kiko motuhake e hono ana i ngā wāhanga rerekē o tō tātou tinana, pērā i te kiri, ngā wheua, ngā uaua toto, me ngā takirere ngākau, ā, ka āwhina i a rātou kia kaha me te ngāwari.

I roto i te tangata e pāngia ana e te Marfan syndrome, he ngoikore te kiko honohono nei, ā, he tino ngāwari rawa . He rite ki te here rapa, engari he iti ake te kaha. Koia te take ka pā tēnei mate ki ngā pūnaha rerekē o te tinana. Ka pā te nuinga ki te ngākau, ki ngā uaua toto, ki ngā kanohi, ki ngā wheua me ngā hononga .

E kiia ana tēnei e ngā tākuta he āhuatanga ira me te "whakaaturanga rerekē". Ko te tikanga, ehara i te mea ka rite ngā tohu o te katoa e pāngia ana e te mate. He iti noa iho ngā tohu o ētahi tāngata, engari he iti ake ngā tohu o ētahi atu. Ā, ka rerekē te roa o te wā e puta ai ngā tohu i ia tangata, i ia tangata.

He mate te Marfan syndrome e kitea ana i te whānautanga . Heoi, i ētahi wā ka kitea ngā tohu, ā, tera pea he taiohi koe, he pakeke ake rānei i te wā e tātaritatia ai koe. Ko tētahi o ngā mate hononga tuku iho tino noa. E pāngia ana e te mate te kotahi i roto i te 3,000 ki te 5,000 tāngata.

He aha pea ngā tohu o tēnei?

E rua ngā āhuatanga matua o te Marfan syndrome. Ko tētahi he aneurysm pakiaka aorta (aortic root aneurysm) . He pupuhi, he whānui rānei tēnei o te uaua toto matua e kawe ana i te toto mai i te ngākau ki te tinana (te aorta). Ko tētahi he karu kanohi kua motu (ectopia lentis) .

Ka taea e ēnei āhuatanga matua e rua te whakararu i a koe ki ngā tohu pēnei i:

• Ko te tere o te pao o te ngākau he pānga ki te tere o te pao o te ngākau me te tukinga o te uma.
• Te rongo i te tere me te kaha o te pao o tō ngākau.
• Mamae kanohi.
• Te uaua ki te manawa.
• Ngā huringa tirohanga; hei tauira, te astigmatism me te tino tirohanga tata.

Engari nā te mea ka pāngia ētahi atu wāhanga o te tinana e te Marfan syndrome, ka puta pea ētahi atu tohu. Hei tauira, ko ngā tohu ā-tinana ko:

• Tērā pea te āhua o te mata he paku roa, he whaiti hoki.
• He roa ake te āhua o ngā ringa, ngā waewae me ngā maihao ki te whakaritea ki ētahi atu wāhanga o te tinana.
• Ko ngā niho pīrori he niho e kumea ana tetahi ki tetahi, ā, te āhua nei kua whakatakotoria tetahi ki runga i tetahi.
• Te korokoro.
• Waewae papatahi.
• Te ngoikore me te ngāwari o te nekenekehanga o ngā hononga.
• Ka puta ngā tohu totoro ki te kiri ahakoa kāore te taumaha o te tinana e tino rerekē.
• He pouaka totohu (pectus excavatum) he pouaka puhoi ranei (pectus carinatum).
• He tinana roa, kikokore.

He aha ngā raruraru o tēnei āhuatanga?

Ka taea e te Marfan syndrome te whakararu i ngā momo raruraru ka pā ki tō ngākau, kanohi, me ngā pukahukahu.

Ko ngā raruraru o te ngākau me te ngākau ngā raruraru tino noa o te Marfan syndrome. Kei roto pea i ēnei:

• Te tapahi i te uaua o te aorta: He pakaru tēnei i te paparanga o roto o te pakitara o tō aorta. He āhuatanga ohorere tēnei.
• Mate takirere ngākau: Ka taea e te Marfan syndrome te whakararuraru i te kiko o ngā takirere ngākau, ka ngāwari hoki.
• Ngākau nui: I roto i te wā, ka nui haere, ka ngoikore hoki te uaua o tō ngākau.
• Ngā rerekētanga o te pā o te ngakau (Arrhythmia): He maha ngā wā ka honoa tēnei āhuatanga ki te mitral valve prolapse.
• Ngā aneurysms roro: He pupuhi o tētahi wāhi ngoikore i roto i tētahi oko toto i roto, i te taha rānei o te roro.

Ko ngā raruraru kanohi ka uru atu ki:

• Ngā katarata.
• Te āhua o te glaucoma.
• Te wehenga o te retina.

Ko ngā panonitanga o te kiko o te pukahukahu e pā ana ki te Marfan syndrome ka piki ake te mōrearea o:

• Te mate huango.
• Te mate pūkahukahu.
• Te mate pūkahukahu ārai mau tonu (COPD).
• Te hinga o te pukahukahu/te pneumothorax.
• Te mate pūkahukahu.
• Pūngāwerewere.

He aha te take o te Marfan syndrome?

Nā te rerekētanga ira tēnei i puta ai. Ina koa, he panoni i roto i te ira – te ira FBN1 – e kī ana ki ō tātou pūtau kia hanga he pūmua e kiia nei ko te fibrillin . Ko tēnei fibrillin tētahi wāhanga nui o ngā muka pīataata i roto i ō tātou kiko honohono.

I te nuinga o te wā, ko te Marfan syndrome he mate e tukuna iho ana i tētahi o ngā mātua . He tukunga iho autosomal dominant tēnei.He mate tuku iho. Arā, ka taea te take o te mate mā te tuku iho i te ira mai i tētahi mātua. E 50% te tūponotanga o te tangata whai Marfan syndrome ki te tuku i te mate ki ia o ā rātou tamariki.

Heoi, i roto i te 25% pea o ngā take, ka puta pea tēnei āhuatanga nā tētahi huringa ira hou (kāore e taea te tautuhi i te take), me te kore he hītori whānau.

Me pēhea te tautuhi a ngā tākuta i te Marfan syndrome?

Nā te mea he maha ngā kiko rerekē o te tinana e pāngia ana e te Marfan syndrome, me rapu āwhina pea koe i tētahi rōpū tohunga hei tātaritanga i te mate me te whakawhanake i tētahi mahere maimoatanga.

Tuatahi, ka mahi ngā tākuta i ēnei mea:

• Pātai atu mō tō hītori hauora.
• Ka whakahaerehia he whakamātautau tinana hei tirotiro mēnā he tohu noa iho o te mate.
• Te pātai atu mō ō tohumate.
• Pātai atu mēnā kua pāngia tētahi o te whānau e ngā raruraru hauora e pā ana ki te Marfan syndrome.

He tikanga mā ngā tākuta te whakamahi i tētahi huinga paearu e kiia nei ko te "Ghent nosology" hei tātaritanga i te Marfan syndrome. Tērā pea ka tūtohutia ēnei whakamātautau hei whakaū i te tātaritanga, hei whakakore rānei i ētahi atu āhuatanga rite:

• Matawai CT `(Tomography rorohiko - Matawai CT)`.
• X-ray o te uma.
• Whakamātautau E.C.G. `(Electrocardiogram - ECG)`.
• Te whakamātautau manawa o te ngākau.
• Matawai MRI (Whakaahua aukume - MRI)

Mā te whakamātautau ira (he whakamātautau toto tēnei) ka taea te rapu i ngā huringa o te ira FBN1, e puta ai te mate Marfan i te nuinga o te wā. Heoi, kāore i te mārama tonu ngā hua o ēnei whakamātautau ira. Ka taea hoki e tēnei whakamātautau te rapu i ētahi atu āhuatanga ira e puta ai ngā tohu rite, pērā i te mate Loeys-Dietz.

Me pēhea te rongoā i te Marfan syndrome?

Kāore he rongoā mō te Marfan syndrome. Heoi, he maha ngā maimoatanga me ngā tikanga hei āwhina i a koe ki te whakahaere i ō tohu me te ārai i ngā raruraru. Kei roto i ēnei ko:

• Ngā rongoā.
• Te aroturukitanga hauora auau.
• He aratohu mō ngā mahi ā-tinana.
• Pokanga.

Me whai mahere maimoatanga koe e hāngai ana ki ō raruraru hauora.

Ngā rongoā

Ka āwhina ētahi rongoā ki te ārai, ki te whakahaere rānei i ngā raruraru:

• Ngā ārai-beta: Ka ārai, ka whakaroa rānei ēnei i te whakanui o ngā uaua nui. Ka tūtohu ngā tākuta kia tīmata wawe tēnei maimoatanga mō te hunga whai Marfan syndrome. Mena kāore e taea e koe te tango i ēnei nā te mea he mate pēnei i te mate huango, nā ngā pānga taha rānei, ka hoatu pea e tō tākuta he ārai hongere konupūmā ki a koe.
• Ngā aukati i te kaiwhakawhiwhi Angiotensin II (ARB):Ka taea hoki e ēnei rongoā te āwhina i te whakaroa i te tere o te whakanui o te whekau nui.

Mena ka pokangahia tō takirere ngākau nā te Marfan syndrome, me tango e koe te rongoā ārai toto mō te toenga o tō oranga.

Te tirotiro hauora tonu

Me tirotirohia e koe te hauora i ia wā mō ēnei mea:

• Te ngākau me ngā uaua toto – inā koa te rahi o tō diaphragm nui.
• Ngā kanohi.
• Pūnaha angaanga.

Mā tēnei, ka taea e tō tīma hauora te aroturuki i ngā huringa me te tautuhi wawe i ngā raruraru pea. Mā rātou koe e kī atu ki te auau o tō haerenga mai mō ēnei whakamātautau.

Ko tēnei aroturukitanga he whakauru i ngā whakamātautau whakaahua pēnei i:

• Ngā matawai CT.
• Ngā inenga manawa o te ngākau.
• Ngā matawai MRI.

Aratohu mō ngā mahi ā-tinana

Ka taea e ngā mahi whakakori tinana taumaha te pēhi i tō diaphragm me ētahi atu kiko honohono e pāngia ana e te Marfan syndrome. Nō reira, me mahi tahi koe me tētahi kaiwhakaora tinana ki te kimi i ngā mahi whakakori tinana me ngā hākinakina haumaru e tika ana māu.

Ko te tikanga, ka tūtohu ngā tākuta i ngā mahi whakakori tinana iti ki te taurite, engari ki te mea kua pokaina tō takirere mitral, ō pakiaka takirere rānei, me whakaiti ake pea tō kaha whakakori tinana.

I te nuinga o te wā, me karo koe i ngā mea penei:

• Ngā mahi e pupuri ana i tō manawa me te whakapau kaha (te nekehanga Valsalva).
• Ngā hākinakina whakapā.
• Whakakorikori tinana kia ngenge rawa.
• Ko ngā mahi whakakori tinana e mau ana i tētahi tūranga mō te wā roa, pērā i ngā papa me ngā nohoanga pakitara, ka kiia he mahi whakakori tinana isometric.

Pokanga ngākau

Ko ngā whāinga matua o te pokanga ngākau mō te Marfan syndrome he ārai i te whānui, te pakaru rānei o tō takirere aorta, me te rongoā i ngā raruraru takirere. Māu me tō tīma hauora e whakatau tahi mēnā me pokanga koe, i muri i te whai whakaaro ki ētahi āhuatanga.

Koinei ngā pokanga me ngā tikanga e tino whakamahia ana mō te Marfan syndrome:

• Te whakatikatika, te whakakapi rānei i te takirere aorta.
• Te whakatikatika i te aneurysm aortic e piki ake ana.
• Te whakatikatika, te whakakapi rānei i te takirere mitral.
• Te whakatikatika i te aorta endovascular o te uma.

Ki te hiahia koe ki te pokanga, ngana ki te whiriwhiri i tētahi hōhipera nui e mōhio ana ki te momo pokanga e mahia ana e koe. Me mārama hoki tō tīma pokanga ki te Marfan syndrome.

He aha ngā mea ka taea e koe te tumanako atu ina noho tahi koe me te Marfan syndrome?

Mena kei a koe te Marfan syndrome, me haere koe ki te tākuta i ia wā, ā, me tūpato hoki ki tō tinana. Kāore e rite te pānga o te Marfan syndrome ki te katoa, nō reira, he motuhake tō haerenga me tēnei mate ki a koe. Mā tō rōpū hauora koe e āwhina ki te urutau ki ngā huringa o tō mate.

Kia maumahara, kāore koe i te mokemoke. Kei a koe tonu te tīma hauora.

Nā te nui haere o te mōhiotanga mō te Marfan syndrome me te pai ake o ngā maimoatanga hauora, kua roa ake te ora o te hunga whai Marfan syndrome i tō rātou oranga i mua i te tekau tau atu i 1970. Kua tata rite te roanga o te oranga o te tangata whai Marfan syndrome ki te tangata kāore i te mate. Heoi, he poto ake te roanga o te oranga o ngā tāne i tō ngā wāhine.

Ko te mate manawa tonu te tino take o te mate i roto i te Marfan syndrome. He pono rawa tēnei mō ngā matenga ohorere e puta ana i te wā kāore i te mōhiotia te mate. He nui ake hoki te mōrearea mō te hunga ka whiwhi tātaritanga tōmuri.

Te mate Marfan me te hauora hinengaro

He maha ngā mea ka pā ki tō hauora hinengaro me te kounga o te oranga ina noho tahi koe me te Marfan syndrome. Hei tauira:

• He mate mau tonu te Marfan syndrome, ā, me rongoā tonu mō te wā katoa.
• Te pānga o tēnei āhuatanga ki tō āhua.
• Te mamae mau tonu me te ngenge.
• Ngā herenga mō ngā mahi ā-tinana (he maha ngā wā ka pāngia hoki ngā whanaungatanga pāpori).
• Te pēhanga o te whakamahere whānau.

Nā tēnei, tera pea ka nui ake tō tūponotanga ki ngā mea pēnei i:

• Te manukanuka.
• Te pouri.
• Te pāngia e te tukino a ētahi atu.
• Te noho mokemoke ā-iwi.

Kei te mōrearea hoki ngā kaitiaki me ngā mema whānau o te hunga whai Marfan syndrome ki te whakawhanake i ēnei raruraru hauora hinengaro.

He rite tonu te hiranga o tō hauora hinengaro ki tō hauora tinana.

Mena kei te pāngia koe e te ahotea nā te Marfan syndrome, kaua e wareware ki te rapu āwhina mai i tētahi tohunga hauora hinengaro, pērā i tētahi tohunga hinengaro . Tērā pea ka kitea e koe he āwhina te whakauru atu ki tētahi rōpū tautoko.

Ka rite te oranga me te Marfan syndrome ki te kuaha hurihuri o ngā whakaritenga, ngā maimoatanga, me ngā huringa momo noho. Engari ko ia whakamātautau me ia whakaritenga ka āwhina i a koe ki te karo i ngā raruraru o te Marfan syndrome me te noho ora tonu. Kei a koe tō tīma hauora i roto i ngā mea katoa. Tikina tā rātou tautoko me tā rātou arataki. Ki te mea kei te pēhia koe e ēnei mea katoa, rapua he āwhina mai i tētahi tohunga hauora hinengaro.

Ngā mea tino nui hei maumahara (Karere hei kawe ki te kāinga)

Āe, me titiro tātou ki ētahi o ngā kōrero matua hei maumahara māu mai i ngā mea kua kōrerohia e tātou:

• He mate ira te Marfan syndrome., ka pā ki ngā kiko honohono o tō tātou tinana.
• Ka pā pea tēnei ki ngā wāhi maha pērā i te ngākau, ngā kanohi, me ngā wheua. He mea tino nui kia tirotirohia koe e te rata i ia wā .
• Ahakoa kāore he rongoā katoa mō tēnei, he pai ngā maimoatanga hei whakahaere i ngā tohu me te ārai i ngā raruraru.
• Kia tika te whai i ngā tohutohu a tō tākuta. Tangohia ō rongoā i te wā tika, ā, me whakamātautau koe i ngā mea kua whakahaua.
• Me tino tupato koe i te wā e mahi ana koe i ngā mahi ā-tinana. Pātai atu ki tō tākuta, ki tō kaiwhakaora tinana rānei, he aha ngā mahi whakakori tinana e tika ana māu.
• Kia tiakina hoki tō hauora hinengaro. Kaua e mangere ki te rapu āwhina mēnā e hiahia ana koe.
• Kāore koe i te mokemoke, kei a koe he tīma hauora, he whānau, me ngā hoa hei āwhina i a koe.

Ko tāku tumanako ka whai hua ēnei mōhiohio ki a koe. Mēnā he pātai anō āu, kaua e mangere ki te pātai atu ki tō tākuta.

` Te Mate Marfan, te mate ira, te kiko honohono, te mate manawa, ngā wheua, ngā kanohi, te fibrillin