He aha te Mate Marfan? Tohutohu, Take, me te Maimoatanga

Ko te mate Marfan he āhuatanga ira e pā ana ki te kiko hono o tō tinana – te 'hurihuri' e pupuri ana i ō whekau, i ō wheua, me ō oko toto. Whakaarohia te kiko hono hei anga e hoatu ana te hanganga me te tautoko ki tō tinana, rite tonu ki te āhua o ngā pou rino e tautoko ana i te whare.

Ka pā tēnei āhuatanga ki ngā wāhanga maha o tō tinana, no te mea kei te katoa te kiko hono. Ko tō ngakau, ngā oko toto, ngā wheua, ngā hononga, me ngā kanohi, ka whakawhirinaki katoa ki te kiko hono hauora kia mahi pai ai. Ahakoa he iti rawa te mate Marfan, e pā ana ki te 1 i roto i ngā 5,000 o te tangata, ka taea e te mārama ki a ia te āwhina i a koe ki te mohio ki ngā tohu nui me te rapu i te tiaki tika.

He aha ngā tohu o te mate Marfan?

He rereke ngā tohu o te mate Marfan mai i te tangata ki te tangata, ahakoa i roto i te whānau kotahi. He iti ngā tohu o ētahi tangata kaore rātou e pā ki to rātou oranga o ia rā, engari ka wheako ētahi atu i ngā huringa tino kitea e hiahia ana ki te tiaki hauora.

Ko ngā tohu tino noa ka kitea e koe, ko te teitei me te angiangi, me ngā ringa, ngā waewae, me ngā maihao roa. Ka nui ake pea te roa o ō ringa i tō teitei, ā, ka roa pea ō maihao ka taupokina e koe tō ringa, ka taupokina e ō maihao matua me ō maihao iti.

Koinei ngā wāhanga matua e puta ai ngā tohu:

• Ngā āhuatanga o te anga: Teitei tino teitei, ngā waewae me ngā ringa roa, te tuaka kopiko (scoliosis), te uma e hohonu ana, te waewae papatahi, ngā hononga ngāwari
• Ngakau me ngā oko toto: Te ngākau ngākau, te ngākau tere, te manawa poto i te wā e mahi ana, te mamae o te uma, te mokemoke
• Ngā kanohi: Te kite tata kino, te nekehanga o te karaihe, ngā cataracts wawe, te wehe o te retina
• Te kiri me te kiko: Ngā tohu totokore kaore e pā ana ki ngā huringa taumaha, te kiri ngawari e mōkī ngāwari ana, ngā hernia
• Te pūnaha io: Ngā raruraru ako, ngā raruraru aro, ngā whakaroa kōrero (iti)

He mea nui kia mahara kei te tikanga ko te whai i tetahi, rua rānei o ēnei āhuatanga kaore e tikanga kei a koe te mate Marfan. He maha ngā tangata e teitei ana, he roa rātou maihao kaore he āhuatanga.

He aha ngā take o te mate Marfan?

Ka puta te mate Marfan nā ngā huringa i roto i te ira motuhake e kiia nei ko te FBN1. Ka hoatu e tēnei ira ngā tohutohu ki tō tinana mō te hanga i te pūmua e kiia nei ko te fibrillin-1, he mea nui mō te kiko hono hauora.

Ina he mutation te ira FBN1, ka iti rawa te fibrillin-1 e hanga ana e tō tinana, kaore rānei e whakaputa i te putanga kino. Kaore he fibrillin-1 kounga pai, ka ngoikore, ka ngāwari ake te totoro o tō kiko hono i te mea e tika ana.

E 75% o ngā tāngata e whai ana i te mate Marfan ka whiwhi i te āhuatanga i te mātua e whai ana hoki. Ki te whai tetahi mātua i te mate Marfan, ka 50% te tūponotanga o ia tamaiti ki te whiwhi i te huringa ira. Ko te toenga o ngā take 25% ka puta ina puta mai te huringa ira, arā, kaore tetahi o ngā mātua e whai ana i te āhuatanga.

Ka taea e tēnei huringa whakamutunga te puta ki te tangata, ahakoa te hītori whānau, te tau, te noho rānei. Kaore i puta mai i tetahi mea i mahi, i kore rānei e mahi ngā mātua i te wā hapu.

Nōhea te haere ki te taote mō te mate Marfan?

Me whakaaro koe ki te haere ki te taote ki te kite koe i ngā āhuatanga maha e pā ana ki te Marfan i roto i a koe, i tō tamaiti rānei. Ka taea e te kite wawe te whakaora i te ora, no te mea ko ētahi atu raruraru, ina koa ko ngā mea e pā ana ki te ngakau, ka kino ki te kore e whakaora.

Rapua te tiaki hauora tonu ki te wheako koe i te mamae o te uma, te manawa poto nui, te ngākau koretake, te huringa ohorere rānei o te tirohanga. Ka taea e ēnei tohu te tohu i ngā raruraru nui e hiahia ana ki te tiaki wawe.

Mō te aromatawai noa, whakaarohia te whakarite i te hui ki te whai koe i te hītori whānau o te mate Marfan, ahakoa kaore koe e whai tohu marama. I etahi wa ka ngawari te āhuatanga kaore e kitea mo ngā tau.

He nui hoki te korero ki te kaiwhakarato hauora ki te whakaaro koe ki te whānau tamariki, ā, kei tō whānau te mate Marfan. Ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ngā tūponotanga me ngā whiringa kei a koe.

He aha ngā take tūponotanga mō te mate Marfan?

Ko te take tūponotanga matua mō te mate Marfan ko te whai i te mātua e whai ana i te āhuatanga. No te mea ka whai i te tauira rangatira autosomal, kotahi noa te kape o te ira i hurihia e koe hei whakawhanake i te mate.

Heoi, ko te kore o te hītori whānau kaore e tikanga kei te ora tonu koe i te whakawhanake i te mate Marfan. E 1 i roto i ngā 4 o ngā tāngata e whai ana i te āhuatanga kaore he hītori whānau, arā, ko o rātou huringa ira i puta mai.

Ko te pakeketanga o ngā mātua, ina koa ko ngā matua pakeke, ka piki haere pea te tūponotanga o ngā huringa ira whakamutunga, engari he iti tonu tēnei tūponotanga. Ka pā te āhuatanga ki ngā roopu iwi katoa me ngā tane me ngā wāhine rite tonu.

He aha ngā raruraru pea o te mate Marfan?

Ahakoa he maha ngā tāngata e whai ana i te mate Marfan e ora ana i ngā oranga tino nui, ka taea e te āhuatanga te arahi ki ngā raruraru nui ki te kore e whakahaere tika. Ko ngā raruraru tino awangawanga e pā ana ki tō ngakau me ō oko toto.

Koinei ngā raruraru matua hei matawai:

• Te whānui o te aorta: Ka taea e tō aorta (te oko toto nui mai i tō ngakau) te totoro me te ngoikore, ka taea te arahi ki te pakaru kino
• Ngā raruraru o te waahanga ngakau: Kaore pea ngā waahanga e kati tika ana, ka taea te rere o te toto ki muri
• Ngā raruraru tirohanga: Ka taea e te nekehanga o te karaihe, te wehe o te retina, te glaucoma wawe rānei te pā ki tō tirohanga
• Ngā raruraru o te tuaka: Ko te scoliosis nui ka hiahia pea ki te pokanga, ka pā ki te manawa
• Ngā raruraru o te manawa: Ka taea te hinga o te manawa (pneumothorax), ina koa ki ngā tāngata teitei, angiangi

Ko te rongo pai, me te tirotiro me te maimoatanga tika, ka taea te aukati, te whakahaere rānei i te nuinga o ēnei raruraru. Ka taea e ngā tirotiro noa me ngā tohunga te hopu i ngā raruraru i te wawe ka taea te whakaora.

Me pēhea te whakatau i te mate Marfan?

Ko te whakatau i te mate Marfan e hiahia ana ki te aromatawai whānui, no te mea kaore he whakamātautau kotahi e taea te whakau i te āhuatanga. Ka whakamahi tō taote i ngā paerewa kua whakatūria e titiro ana ki tō hītori whānau, ngā āhuatanga tinana, me ngā hua whakamātautau.

Ko te tukanga whakatau e whakauru ana i te tirotiro tinana taipitopito, ka ine ai tō taote i ngā āhua o tō tinana ka titiro ki ngā āhuatanga tohu. Ka aromatawaihia e rātou tō anga, tō kiri, me tō ahua whānui.

He maha ngā whakamātautau motuhake e āwhina ana ki te whakau i te whakatau. Ka tirotirohia e te echocardiogram tō ngakau me tō aorta, ka tirotirohia e te whakamātautau kanohi a te ophthalmologist ngā raruraru o te karaihe me ētahi atu take tirohanga. Ka tono pea tō taote i ngā rangahau whakaahua o tō tuaka me ētahi atu wāhanga o tō tinana.

Ka taea e te whakamātautau ira te kite i ngā mutations i roto i te ira FBN1, ahakoa kaore i te hiahiatia tonu mō te whakatau. I etahi wā, he marama ngā āhuatanga hauora ki te mahi i te whakatau kaore he whakamātautau ira.

He aha te maimoatanga mō te mate Marfan?

Ko te maimoatanga mō te mate Marfan e aro ana ki te whakahaere i ngā tohu me te aukati i ngā raruraru, kaore i te whakaora i te āhuatanga. Ko te whāinga ko te āwhina i a koe ki te ora noa iho i te wā e tiaki ana i ō whekau tino ngoikore.

Ko tō rōpū tiaki ka whai pea i ngā tohunga maha e mahi tahi ana. Ka tirotirohia e te cardiologist tō ngakau me ō oko toto, ka tiakina e te ophthalmologist ō kanohi. Ka taea e te tohunga orthopedic te āwhina ki ngā take wheua me ngā hononga.

Ko ngā huarahi maimoatanga e whakauru ana ki:

• Ngā rongoā: Beta-blockers, ARBs rānei hei tiaki i tō aorta me te whakaiti i te ahotea o te ngakau
• Te pokanga: Te whakatikatika aorta, te whakakapi waahanga ngakau, te whakatikatika scoliosis rānei ina hiahiatia
• Ngā whakarerekētanga mahi: Te karo i ngā hākinakina hononga me te kawe taumaha hei tiaki i tō ngakau me ō oko toto
• Te tirotiro noa: Ngā whakaahua me ngā tirotiro noa hei hopu i ngā raruraru i te wawe
• Te whakatikatika tirohanga: Anō, ngā karaihe hono, te pokanga rānei mō ngā raruraru kanohi

Ka taea e te nuinga o ngā tāngata e whai ana i te mate Marfan te whakauru ki ngā mahi iti penei i te kauhoe, te hikoi, te eke paihikara rānei. Ka āwhina tō taote i a koe ki te whakatau i ngā mahi e tika ana mō tō āhuatanga motuhake.

Me pēhea te whakahaere i te mate Marfan i te kāinga?

Ko te ora pai me te mate Marfan e whakauru ana ki te mahi i ngā whiringa noho ora mohio me te mau tonu ki tō mahere maimoatanga. Ka taea e ngā whakatau iti o ia rā te whakarereke nui ki tō hauora roa me te kounga o te ora.

Aro atu ki te pupuri i te taumaha hauora hei whakaiti i te ahotea ki ō hononga me tō pūnaha cardiovascular. Ko te kai kai tōtika e whai ana i te konupūrua me te hua D e tautoko ana i te hauora wheua, he mea nui ina koa mō ngā āhuatanga anga o te āhuatanga.

Noho mahi me ngā whakakori e whakaaetia ana penei i te kauhoe, te hikoi, te yoga rānei. Ka taea e ēnei mahi te āwhina i te pupuri i te kaha o te uaua me te ngawari kaore e tino ahotea ki tō kiko hono.

Tīakihia ō kanohi mā te kakahu i ngā karāhe me te whiwhi i ngā whakamātautau kanohi noa. Ki te whai koe i ngā raruraru tirohanga, kia tino hou tō rongoā, ā, whakaarohia te kakahu i ngā karāhe tiaki i ngā mahi.

Tangohia ō rongoā rite tonu ki te whakaritea, ā, pupurihia ngā hui whakarite katoa. Kaua e ngaro ngā rā, kaua hoki e mutu ngā rongoā kaore i te korero ki tō taote, ahakoa kei te pai koe.

Me pēhea te whakarite mō tō hui taote?

Ko te whakarite mō tō hui e āwhina ana ki te whakarite ka whiwhi koe i te nuinga o tō wā me tō kaiwhakarato hauora. Tīmata mā te kohikohi i ngā korero mō te hītori hauora o tō whānau, ina koa ko ētahi whānau e whai ana i te mate Marfan, te mate ngakau ohorere rānei.

Hangaia he rārangi o ō tohu katoa, ahakoa kaore e pā ana. Whakauruhia te wā i tīmata ai rātou, te maha o te puta, me te aha e pai ake ai, e kino ake ai rānei. Kaua e wareware ki te whakahua i ngā huringa tirohanga, te mamae o ngā hononga, te raruraru manawa rānei.

Kawe mai he rārangi katoa o ngā rongoā, ngā tāpiri, me ngā hua e tangohia ana e koe. Whakauruhia te horo me te auau mō ia mea. Ki te tango koe i ngā rongoā maha, whakaarohia te kawe mai i ngā ipu pono hei karo i te whakapohehe.

Whakaritea ngā pātai i mua. Ka hiahia pea koe ki te ui mō ngā herenga mahi, te wā hei whakarite i ngā haerenga whakarite, te aha rānei ngā tohu e hiahia ana ki te tiaki hauora tonu.

Whakaarohia te kawe mai i te mema whānau, hoa rānei hei āwhina i a koe ki te mahara ki ngā korero nui me te whakarato i te tautoko ngākau i te wā o te hui.

He aha te mea nui mō te mate Marfan?

Ko te mate Marfan he āhuatanga ira e taea te whakahaere e pā ana ki te kiko hono puta noa i tō tinana. Ahakoa e hiahia ana ki te tirotiro me te tiaki ora, ka taea e te nuinga o ngā tāngata e whai ana i te mate Marfan te ora i ngā oranga tino nui, hua me te whakahaere hauora tika.

Ko te mea nui hei mahara ko te kite wawe me te tiaki whakarite noa ka taea te aukati i ngā raruraru nui. Ki te whakaaro koe kei a koe, i te mema whānau rānei te mate Marfan, kaua e whakaroa ki te rapu i te aromatawai hauora.

Ko te mahi tata me tō rōpū hauora, te noho mohio ki tō āhuatanga, me te whai i tō mahere maimoatanga ko ō taputapu pai mō te ora pai me te mate Marfan. Kia mahara kei te whakatau koe i tēnei āhuatanga – kotahi noa te wāhanga o tō hauora e hiahia ana ki te aro me te tiaki.

Ngā pātai e ui pinepinetia ana mō te mate Marfan

Ka taea e ngā tāngata e whai ana i te mate Marfan te whānau tamariki me te ora?

Ae, ka taea e te nuinga o ngā tāngata e whai ana i te mate Marfan te whānau tamariki, engari e hiahia ana ki te whakarite me te tirotiro. Ko ngā wāhine e whai ana i te mate Marfan e hiahia ana ki te tiaki hapu motuhake, no te mea ka taea e te hapu te tuku atu i te ahotea ki te ngakau me te aorta. Ka tirotirohia koe e tō taote i te wā hapu, ka tono pea i te tohutohu ira ki te kōrero mō te 50% te tūponotanga o te tuku i te āhuatanga ki tō tamaiti.

He rite te mate Marfan ki te katoa e whai ana?

Kāo, he rereke te pānga o te mate Marfan ki ngā tāngata, ahakoa i roto i te whānau kotahi. He iti ngā tohu o ētahi tāngata kaore e pā ki to rātou oranga o ia rā, engari ka wheako ētahi atu i ngā raruraru nui ake. Ka rereke te kaha me te whakakotahitanga o ngā tohu, koia te take he mea nui te tiaki hauora takitahi.

Ka taea te aukati i te mate Marfan?

No te mea he āhuatanga ira te mate Marfan, kaore e taea te aukati. Heoi, ki te whai koe i te hītori whānau o te āhuatanga, ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ō tūponotanga me ō whiringa. Ahakoa kaore e taea e koe te aukati i te āhuatanga, ka taea e te kite wawe me te whakahaere tika te aukati i ngā raruraru nui.

He aha ngā hākinakina me ngā mahi e ora ana me te mate Marfan?

Ko ngā mahi iti penei i te kauhoe, te hikoi, te eke paihikara, te yoga rānei e ora ana mō ngā tāngata e whai ana i te mate Marfan. Heoi, me karo koe i ngā hākinakina hononga, te kawe taumaha nui, me ngā mahi e whakauru ana ki ngā tīmatanga ohorere me ngā mutu. Ka hoatu e tō cardiologist ngā aratohu motuhake e pā ana ki tō āhuatanga ngakau me tō aorta.

Te maha o ngā tāngata e whai ana i te mate Marfan e hiahia ana ki ngā tirotiro hauora?

Ko te nuinga o ngā tāngata e whai ana i te mate Marfan e hiahia ana ki ngā echocardiograms ia tau hei tirotiro i o rātou ngakau me o rātou aorta, me ngā whakamātautau kanohi noa. Ki te whai koe i ngā tohu nui ake, ngā raruraru rānei, ka hiahia pea koe ki te tirotiro auau. Ka hanga e tō rōpū hauora he kaupapa motuhake e pā ana ki ō hiahia me ō take tūponotanga.