He roa rawa, he roa ngā waewae... He Marfan Syndrome pea tēnei!

Kei te whakaaro anō hoki koe he roa ake koe, he roa ake hoki ō ringa me ō waewae i ō hoa? He ngawari rānei te whati o ō hononga? Kua mau mōhiti koe mai i tō tamarikitanga? Mena kei a koe tētahi, ētahi rānei o ēnei mea, he mea nui pea kia mōhio koe ki te mate e kōrerohia ana i tēnei rā, e kiia nei ko te Marfan Syndrome. Ahakoa he ahua tauhou tēnei, me kōrero noa iho tātou.

He aha te Marfan Syndrome?

Whakaarohia tō tātou tinana he whare ataahua te hanga. Ko ngā pereki, ngā pakitara, me te tuanui o tēnei whare e herea ana, e whakapakaritia ana hoki e te moata sima. Waihoki, he momo kiko motuhake kei reira e hono ana i ngā mea katoa o roto i tō tātou tinana, pērā i ngā whekau, ngā wheua, ngā uaua, me ngā uaua toto, ā, e hoatu ana ki a rātou te kaha me te ngāwari e hiahiatia ana e rātou. I roto i te rongoā, e kiia ana tēnei ko te "kiko honohono." He rite ēnei ki te 'kapia' o roto i tō tātou tinana.

He mate ira te Marfan Syndrome. He ngoikore te kiko honohono o te tangata whai mate nei, he tino wetekina rānei. Ko te tikanga o tēnei, he iti ake te kaha me te ngāwari o te kiko honohono. Nā te mea kei roto tēnei kiko honohono puta noa i te tinana, ka pā te Marfan Syndrome ki ētahi wāhanga o te tinana. Ko te nuinga o te wā ka pā ki te ngākau, ki ngā uaua toto, ki ngā kanohi, ki ngā wheua, me ngā hononga .

Ahakoa he mate whānau mai tēnei, i ētahi wā ka puta mai ngā tohu, ā, ka kitea te mate i te wā taitamariki.

He aha pea ngā tohu o tēnei?

Ko te mea nui kia mārama ki konei, ehara i te mea ka pāngia te katoa e te Marfan Syndrome e ngā tohumate ōrite. He rerekē rawa i ia tangata, i ia tangata. He maha pea ngā tohumate o ētahi tāngata, he torutoru noa iho pea ō ētahi. Koia te take e kīia ai tēnei e ngā tākuta he āhuatanga "rerekē te āhua".

Heoi anō, kei reira ētahi āhuatanga noa e kitea ana. Me wehewehe kia rua ngā wāhanga.

Haunga ēnei āhuatanga matua e rua, ka kitea pinepinetia ētahi atu āhuatanga e pā ana ki te āhua o te tinana.

He aha ngā raruraru ka puta mai i te Marfan Syndrome?

Ki te kore e tika te whakahaere i tēnei āhuatanga, ka puta pea ngā raruraru nui i roto i te wā.

Ngā pānga pea ki te ngākau me ngā oko toto

Koinei ngā raruraru e hiahia ana kia tino arohia i roto i te Marfan Syndrome.

• Te tapahi o te uaua o te ngākau: Koinei te āhua tino morearea. He maha ngā paparanga o te pakitara o te uaua o te ngākau. Mā te pakaru ohorere o te paparanga o roto o tēnei pakitara ka turuturu te toto i waenga i ngā paparanga. He āhua morearea tēnei e hiahia ana kia pokanga ohorere.
• Mate takirere o te ngākau: Ka ngoikore ngā takirere o te ngākau, ā, kāore pea e kati tika, ka turuturu whakamuri te toto.
• Ngākau nui: Ka nui haere, ka ngoikore hoki te uaua o te ngākau nā te mea me kaha ake te mahi a te ngākau i roto i te wā.
• Te koretake o te pā o te ngakau (Arrhythmia): Ka rerekē pea te pā o te ngakau.
• Ngā aneurysms roro: Ka pupuhi pea tētahi wāhi ngoikore i roto i te oko toto i roto, i te taha rānei o te roro, pērā i te poihau.

Ngā pānga ki ngā kanohi

• Ngā katarata
• Glaucoma
• Te wehenga o te retina

Ngā pānga ki ngā pukahukahu

Ka pā anō hoki ki ngā pukahukahu te ngoikore o te kiko honohono.

• Mate huango
• Ngā mate pūkahukahu (Bronchitis, Pneumonia)
• Pūkahukahu kua hinga (Pneumothorax)

He aha te take e puta ai te Marfan Syndrome? He aha te take?

Ko te take matua mō tēnei he whakarerekētanga ira. Ko te Fibrillin-1, e kitea ana i roto i ngā kiko honohono o tō tātou tinana.He ira kei reira e whakahaere ana i te whakaputanga o te pūmua e kiia nei ko te "fibrillin". Ko te ira "FBN1". He rerekētanga, he hapa rānei (rerekētanga) kei roto i tēnei ira "FBN1" mō te hunga whai Marfan Syndrome. Mā tēnei ka puta he pūmua fibrillin ngoikore i roto i te tinana.

• I te nuinga o te wā (tata ki te 75%) ka riro mai te ira hapa i tētahi o ngā mātua. Mēnā kei tētahi o ngā mātua te mate nei, e 50% te tūponotanga ka riro mai i ia tamariki te mate nei.
• I roto i ngā 25% e toe ana, ka pāngia pea te tamaiti e tēnei whakarerekētanga ira ahakoa kāore ngā mātua e pāngia e te mate. Kāore anō kia kitea te tino take.

Me pēhea te kitenga a ngā tākuta i tēnei?

Nā te mea he maha ngā wāhanga o te tinana e pāngia ana e te Marfan Syndrome, me whai rōpū tākuta mai i ngā momo tohungatanga rerekē hei whakatau i te mate tika. Ko te tikanga ka whai tō tākuta i ēnei mahi:

• Te pātai mō tō hītori hauora me ngā tohumate: Te pātai mō ngā mamae e pāngia ana e koe, ngā raruraru tirohanga, ngā mamae hononga rānei.
• He whakamātautau tinana katoa: ka ine i te teitei, te taumaha, te roa o te waewae, mēnā he mamae tuara, me te āhua o te uma.
• Te pātai mō ngā hītori hauora o te whānau: Te pātai mō ngā mea pēnei i te mea kua pāngia tētahi o te whānau e ēnei tohu, mēnā rānei kua mate tētahi i te hopukanga manawa ohorere.
• Te tuku i ngā whakamātautau motuhake:
• Te Echocardiogram (Whakamātautau Echo): Koinei te whakamātautau tino nui. Ka taea te tirotiro i te āhua o te ngākau me te aorta, me te mahi a ngā takirere.
• Karaehe manawa (ECG): Tirohia mēnā he rerekē te auau o te manawa.
• Ngā matawai CT, MRI rānei: Tirohia te roanga katoa o te aorta me ētahi atu uaua toto me te taipitopito.
• He whakamātautau kanohi: Tāutuhia te tūranga o te karāhe o te kanohi me ētahi atu raruraru.
• Whakamātautau ira: Ka taea te tango toto hei whakatau mena he hapa kei roto i te ira `FBN1`.

He aha ngā maimoatanga mō tēnei?

Tuatahi, kāore he rongoā mō te Marfan Syndrome. Kaua e manukanuka. Ka taea te whakahaere pai, te ārai i ngā raruraru, me te noho ora, hauora hoki. Ko te whāinga matua o te maimoatanga he whakahaere i ngā tohu me te ārai i ngā raruraru kino.

Ngā rongoā

• Ngā ārai-beta: Ka āta whakaroa ēnei rongoā i te tere o te manawa, ka whakaheke i te toto toto, ka whakaiti hoki i te pēhanga ki te aorta. Ka taea e tēnei te whakaroa i te tere o te whānui o te aorta.
• Ngā Ārai Kaitautoko Angiotensin II (ARB): Ka āwhina hoki ēnei rongoā ki te tiaki i te aorta.

Aroturuki Auau

Koinei te wāhanga tino nui o te whakahaere. Me toro atu koe ki te tākuta i ia wā, ā, me whakamātauria anō hoki.

• Ngā uaua o te ngākau me ngā oko toto: Ka whakahaerehia he whakamātautau echo i te iti rawa kotahi i te tau hei tirotiro i ngā huringa o te rahi o te aorta.
• Kanohi: Me tirotirohia ō kanohi e te tākuta kanohi i ia wā.
• Pūnaha angaiwi: Me aro atu hoki koe ki ngā mea pēnei i tō tuaiwi.

Ngā tohutohu mō ngā mahi ā-tinana

He pai te whakakori tinana mō te tangata e pāngia ana e te Marfan Syndrome, engari kāore e pai ngā whakakori tinana katoa. Ka taea e ētahi whakakori tinana kaha te pēhi i te aorta. Nō reira, he mea nui kia kōrero koe ki tō tākuta kia kitea ai ko ēhea ngā whakakori tinana e tika ana māu.

Pokanga Manawa

Mena ka tino whānui te aorta, ka tūtohu pea ngā tākuta kia pokangahia te wāhanga ngoikore, ka whakauruhia he hononga i mua i te pakaru. Mena kua pakaru ngā takirere ngākau, ka taea te mahi pokanga hei whakatika, hei whakakapi rānei.

Te oranga me te hauora hinengaro me te Marfan Syndrome

He uaua te noho me te Marfan Syndrome i ētahi wā. He hoha te haere tonu ki te kite i ngā tākuta, te tango rongoā, me te huri i te āhua noho.

Ā, hoki,

• Ka taea e te whakaaro ki te āhua o tō tinana te whakararuraru.
• Ngā mamae tinana me te ngenge pinepine.
• Ki te kore e taea e koe te tākaro hākinakina, te omaoma, me te tākaro pērā i ētahi atu tāngata, ka rite pea koe ki te mea kei te mokemoke koe.
• Ka taea e ngā mea pēnei i te heke mai me te whakatū whānau te whakararuraru.

Nā ēnei take, tera pea ka pāngia koe e ngā raruraru hinengaro pērā i te manukanuka me te pouri .

Nā te mōhiotanga kei a tātou mō te Marfan Syndrome me ngā maimoatanga hou, kua rite ake te roanga o te oranga o te tangata whai mate nei ki te tangata noa. Ko te mea nui ko te tautuhi wawe i te mate me te whakahaere tika.