He mate tauhou tōu kāore e taea te mārama? Tērā pea ko te Acute Hepatic Porphyria!

Kei te pēhia koe e te mamae puku e kore e taea te whakaaro, i ētahi wā he taumaha te ngākau, ā, he ngoikore ō waewae me ō waewae? Tērā pea kāore ngā tākuta e mōhio he aha te take. Ko tētahi o ēnei tohu rerekē, āhua kore e pā ana, ka kōrerohia e tātou i tēnei rā ko te Acute Hepatic Porphyria (AHP). Kaua e manukanuka, he ahua uaua tēnei, engari me mārama noa iho.

He aha rawa te acute hepatic porphyria (AHP)?

He kupu ngāwari noa iho, he mate ira tino onge te AHP. Ka tīmata i roto i tō ate . Engari ka pā anō hoki ki tō pūnaha io, ka puta ngā tohu puta noa i tō tinana. Whakaarohia, kei reira tetahi mea e kiia nei ko te heme, he wāhanga o te hemoglobin i roto i ō tātou toto. Me hiahia ō tātou tinana ki ngā momo whākōkī hei hanga i tēnei heme. Ko te tangata whai AHP he ngoikore, he kore rānei, o ētahi o ngā whākōkī e hiahiatia ana hei hanga i tēnei heme.

Ka aha mēnā ka puta tēnei? Ko ētahi o ngā matū i tika kia whakamahia hei hanga heme ka toe. Ka kiia ēnei toenga he porphyrin precursors . Ina nui haere ēnei, ka paitini ki te tinana. I roto i te AHP, ka nui haere ēnei paitini i roto i te ate. Kātahi, ina uru ki te toto ka taunekeneke ki ngā io, ka tīmata te puta o ngā tohu. Kei te mārama koe?

He rerekē ngā momo AHP?

Āe, e whā ngā momo matua o te AHP. Kua wehea ēnei momo e whā ki ngā momo whākōkī i kōrerotia e au i mua ake nei, i runga i te whākōkī kāore i te whai kiko. Ka tapaina ia momo i muri i te wāhanga e kiia nei ko te "ate" nā te mea ka tīmata i te ate, me te wāhanga e kiia nei ko te "kōkī" nā te mea ka puta ohorere mai ngā tohu. Mai i te momo tino noa ki te mea kāore i te tino noa, anei ngā momo:

1. Te Porphyria Āwhati Poto (AIP): Koinei te mea tino noa. Ka puta he ngoikore o te whākōkī hydroxymethylbilane synthase (HMBS) (e mōhiotia ana ko te porphobilinogen deaminase (PBGD)) i te whakarerekētanga ira. He whakarerekētanga ira hou pea tēnei, ka taea rānei te tuku iho hei āhuatanga autosomal dominant (arā, ka puta te mate ahakoa kotahi anake te mātua e tuku iho ana i te ira).

2. Variegate Porphyria (VP): Ka puta he ngoikore o te whākōkī protoporphyrinogen oxidase (PPO, PPOX rānei) nā te whakarerekētanga o te ira PPOX. Ka taea hoki tēnei te tuku iho hei autosomal dominant, autosomal recessive rānei.

3. Te Coproporphyria Tuku Iho (HCP): Nā te whakarerekētanga ira i roto i te ira `CPOX` ka kore e taea te whakamahi i te whākōkī `coproporphyrinogen oxidase (CPOX). Ka taea hoki tēnei te tuku iho mā te autosomal dominant, autosomal recessive rānei.

4. ALAD-Deficiency Porphyria (ALAD-Deficiency Porphyria - ADP):Nā te whakarerekētanga o te ira `ALAD` ka puta he ngoikore o te whākōkī `delta-aminolevulinic acid dehydratase (ALAD).` Ka tukuna iho i roto i te tikanga `autosomal recessive` (arā, ka puta noa te mate mēnā ka riro i ngā mātua e rua te ira).

He aha te pānga o te AHP ki ahau?

He mea miharo tēnei, nā te mea kāore te AHP e pā ki te katoa i te ōrite. Ko ētahi tāngata he whakarerekētanga ira mōna engari kāore e puta he tohu . Ko ētahi pea he "whakaeke" o ngā tohu e puta kotahi, e rua rānei i roto i ō rātou oranga. Engari ko ētahi tāngata he maha tonu te pāngia e ēnei whakaeke, ko ētahi he roa tonu te pāngia, ko te tikanga ka mau tonu ngā tohu e pā ana ki ō rātou oranga o ia rā. I ētahi wā ka tino kino te whakaeke, ā, me tere tonu koe ki te rūma whawhati tata o te hōhipera. Tērā pea ka pāngia koe e te mamae nui o ngā io, ngā huringa kiri, me ngā tohu e pā ana ki te pūnaha io.

Ko wai te mea tino tūpono ka pāngia e tēnei?

Ka pāngia te tangata o tētahi iwi, o tētahi tae rānei e te AHP. Ka taea te tuku iho i tētahi, i ngā mātua e rua rānei, he ira whakarerekētanga kei a rātou. He mea whakamīharo, he tokomaha te hunga kāore e puta he tohu . Kāore e ranea te ira whakarerekētanga anake, kia puta ai ngā tohu. Me whai wāhi atu hoki ētahi atu "mea whakaoho" .

He aha ēnei āhuatanga whakaoho?

• Ngā huringa homoni (ina koa i te wā o te pakeketanga, te hapūtanga, me te huringa paheketanga)
• Ētahi rongoā
• Te whakamahinga waipiro
• Te momi hikareti
• Te ahotea nui
• Te whakahaere i te kai tino kaha (ina koa te whakawhāiti i ngā kaata)

He mea nui anō hoki kia mōhiotia ko te 80% o te hunga e pāngia ana e ngā tohu he wāhine e taea ana te whānau tamariki .

He pēhea te noa o te AHP?

He uaua ki te kī pono, nā te mea he maha ngā wā kāore i te tino kitea te mate nei. I te ao whānui, e kiia ana e 5 i roto i te 100,000 tāngata pea e pāngia ana e tēnei mate. O ngā momo kua whakahuatia i mua ake nei, ko te 'Acute Intermittent Porphyria (AIP)' te momo e kitea ana i roto i te 80% noa iho o ngā kēhi kua pūrongohia. Ko te 'ALAD-Deficiency Porphyria (ADP)' te momo iti rawa te kitea, e 9 noa iho ngā kēhi kua pūrongohia puta noa i te ao. Whakaarohia, kotahi noa iho i roto i te 10 tāngata he whakarerekētanga ira e pā ana ki te AHP ka pāngia e ngā tohu.

He aha ngā tohu o te AHP?

He tino rerekē ngā tohu o te AHP. He uaua ki ngā tūroro me ngā tākuta te mārama, nā te mea ka puta ohorere mai ngā tohu, ka kino rawa, ā, te āhua nei kāore e pā tetahi ki tetahi.

Anei ētahi o ēnei āhuatanga:

Mamae io

Ka taea e tēnei mamae te puta i ngā wāhi rerekē o te tinana:

• Te mamae nui o te puku - Koinei te tohu tuatahi ka puta ki te nuinga o te tangata.
• Mamae o te uma
• Mamae tuara
• Te mamae i ngā ringa me ngā waewae

Ngā raruraru o te pūnaha nakunaku

Nā te mea ka pāngia ngā io, ka pā mai pea ngā raruraru ki te pūnaha nakunaku:

• Whakapairuaki me te ruaki
• Te koretake o te kai
• Te kōroke
• Korere

Ngā tohu o te pūnaha io matua

He hononga tika ēnei ki te roro me te hinengaro:

• Manukanuka
• Te kore moe
• Te pouri
• Pōrangi
• Te moemoeā - te kite, te rongo rānei i ngā mea kāore i te tino kitea
• Te āhua o te mate haurangi/te hopuhopu (`Hopu`)

Ngā tohu o te pūnaha io ā-taha

E hono ana ēnei ki ngā io i ētahi atu wāhanga o te tinana:

• ngoikore o te uaua
• Te ngenge me te ngau o ngā peka
• Ngenge
• Te ngaronga o te rongo
• Pararutiki uaua
• Te pararutiki o te manawa – He tino morearea tēnei, ā, ka uaua pea te manawa.

Ngā tohu o te pūnaha io motuhake

Koinei ngā mea ka puta noa mai, kāore e taea e tātou te whakahaere:

• Ngā tere o te ngakau
• toto toto tiketike

Ngā tohu kiri (ina koa i roto i te 'Variegate Porphyria' me te 'Hereditary Coproporphyria')

Tērā pea ka pāngia te kiri o te hunga whai i ēnei momo e rua ina pāngia e te rā :

• Te aro ki te hihi o te rā
• Ponana pupuhi
• Te rerekētanga o te tae o te kiri (Te tae kiri)
• Te whara

Ko te mea nui, ina pāngia koe e te porphyria, ka rerekē pea te tae o tō mimi . Ina kohia aua matū porphyrin i kōrerotia e au ki roto i tō tinana, ā, ka tukuna ki roto i tō mimi, ka huri tō mimi ki te whero-papura . Ko te kupu "porphyria" i ahu mai i te kupu Kariki "porphura," ko tōna tikanga he "papura." Ko ngā porphyrin i roto i ō tātou toto whero te mea e homai ana te tae whero ki te toto.

He aha te whakaeke AHP?

Mō te tini o te hunga whai tohumate AHP, ka puta mai ēnei i roto i te āhua o ngā "whakaeke" i ētahi wā. Ko ētahi ka pāngia pinepine, ko ētahi he iti ake. Ko ētahi ka pāngia kinotia, ko ētahi kāore. I te nuinga o te wā, ka roa ēnei whakaeke mō ētahi rā, kātahi ka piki haere, ka heke haere. Mena he kino, he whakamataku ō tohumate, me haere koe ki te hōhipera. E ai ki taku kōrero, ko ngā mea pēnei i te pararutiki manawa, e uaua ai te manawa, he āhuatanga e hiahia ana kia arohia wawetia e te hauora.

Ko te tohu tino kitea o te whakaekenga AHP ko te mamae puku nui, kāore e taea te whakamārama.Neke atu i te 90% o te hunga whai AHP ka haere ki te tākuta nā te mamae o te puku. Heoi, nā te mea he maha ngā take o te mamae o te puku, ā, nā te mea kāore e taea e te hihi-X, e te karapa CT rānei te kimi i te take o tēnei mamae (nā te mea he mamae io), he tino uaua ki te tautuhi. Nā te mea ka haere tahi tēnei mamae puku me ngā mea pēnei i te whakapairuaki, te ruaki, me te kōroke, ka whakaaro pea ngā tākuta he mate nakunaku. Mena he raruraru hinengaro me ngā raruraru rongo hoki tōu, ka whakaaro pea rātou he mate io. Ina huihui mai ēnei tohu kāore e pā ana, me toro atu ki tētahi tākuta e mōhio ana ki tēnei mate kia mōhio ai he porphyria pea.

He aha ngā tohu mau tonu ka puta mai i te AHP?

Kāore i te maha ngā wā ka pāngia te hunga he mate ngāwari ake (he iti ake te ngoikore o te whākōkī) e ngā tohumate mau tonu. Tērā pea kotahi, e rua rānei ngā whakaekenga ka pāngia e rātou i roto i ō rātou oranga. Mēnā ka kitea e rātou ngā mea e whakaoho ana i a rātou, ka taea e rātou te karo i aua whakaekenga. Heoi, he maha ngā whakaekenga o ētahi tāngata, ā, he maha rawa ngā tohumate ka taea te kī he mau tonu. Ko ēnei tohumate ko:

• Mamae
• Ngenge
• Whakapairuaki
• Neuropathy ( te ngoikore, te mamae, te ngoikore rānei o ngā peka)

He aha ngā raruraru o te AHP?

Ko ngā tohu e pā ana ki te pūnaha io matua (pērā i te manukanuka, te moemoeā, me te hopuhopu) ka puta noa i te wā o te whakaekenga. Heoi, ko ngā tohu e pā ana ki te pūnaha io taha (pērā i te ngoikore o te uaua me te pararutiki) ka puta pinepine, ā, ka puta he kino tuturu i muri i te whakaekenga kino. Ko te kohikohinga o ēnei matū porphyrin ka taea hoki te whakararu i ētahi okana mō te wā roa. Kei roto i ēnei ko:

• Te toto toto tiketike mau tonu
• Mate ate mau tonu
• Mate tākihi mau tonu
• Matepukupuku ate tuatahi
• Te pouri me te manukanuka

He aha ngā take o te AHP?

Ko te tino take o te AHP ko ngā whakarerekētanga ira . Engari e ai ki taku kōrero i mua, kāore ngā tohu e puta tonu mai i muri i te putanga mai o te whakarerekētanga ira. I te nuinga o te wā, ka puta tuatahi ngā tohu i te wā o te pakeketanga, me ngā huringa homoni. Hei tāpiri, ko ētahi rongoā, ko te inu waipiro nui, ko te whakawhāiti kaha i ngā kaora, me ngā mate e whakararuraru nui ana i te tinana ka taea hoki te whakaoho.

Ko te mea e rite ana ki ēnei mea whakaoho katoa, ko te whakaoho i te tukanga whakaputa heme o te ate. Heoi, i roto i te ate o te tangata whai AHP, kāore ngā hua o te whakaputa heme (pērā i ngā matū mua o te porphyrin) e tukatukahia tika ana, arā, e whakamahia ana. Nō reira, ka kohia ēnei matū mua o te porphyrin e toe ana ki roto i te ate. Ina kohia ēnei ki tētahi taumata ka tīmata te pā ki te pūnaha io, ka puta ai ngā tohu.

Me pēhea te tātaritanga o te AHP? (Tauātanga)

Mō te hunga whai AHPHe uaua pea te kimi i te tautuhi tika , nā te mea ehara ngā tohu i te mea motuhake ki tēnei mate, ā, tera pea te āhua kāore e pā ana ki tētahi mea. Heoi, ka whakapae pea te tākuta e mōhio ana ki te AHP i te AHP mēnā kei te mamae tō puku me ngā tohu o te pūnaha io pokapū me te pūnaha io taha. Ko te huinga o ēnei tohu e toru e kiia ana ko te "toru matarohia" o te AHP.

Mena ka whakapae te tākuta kei a koe te AHP, ka whakahaerehia pea e rātou ētahi whakamātautau hei whakaū.

• Whakamātautau mimi: Ka taea tēnei te mahi tere i te wā e pāngia ana koe e te whakaekenga. Tērā pea he noa te mimi ina kore koe e pāngia e te whakaekenga, engari i te wā e pāngia ana koe e te whakaekenga, ka whakaatuhia e te mimi he taumata teitei o ngā matū porphyrin (PBG me te ALA). Ehara tēnei i te whakamātautau e mahia ana mō te AHP anake, engari he whakamātautau taketake hei āwhina i ngā tākuta ki te tohu i a koe ki te huarahi tika.
• Whakamātautau ira: Koinei te huarahi pai rawa atu, te huarahi tino tika hoki hei tautuhi i te AHP (te 'paerewa koura') . Ahakoa he tohu kei a koe, ka taea e ia te whakaū mēnā he whakarerekētanga ira kei a koe e pā ana ki te AHP. Ka taea hoki e ia te kī atu ki a koe ko tēhea momo AHP kei a koe me te kaha o te ngoikore o te whākōkī. Ko te tikanga o tēnei ko te tango i tētahi tauira toto, i tētahi tauira huware rānei. Me tuku pea e tō hōhipera ā-rohe te tauira ki tētahi taiwhanga motuhake.

Me pēhea te rongoā mō te AHP?

Ko te arotahi o te maimoatanga mō te AHP ko te aukati me te whakahaere i ngā whakaekenga . Tērā pea me kawe koe ki te hōhipera i te wā o te whakaekenga. Tērā pea me whakamahi koe i ngā momo rongoā rerekē hei whakaiti i ō tohumate. I ngā wā kāore koe e pāngia ana e ngā whakaekenga, tērā pea me whakamahi koe i ētahi atu rongoā hei whakahaere i ngā mea e kino ake ai ō tohumate. Mēnā ka mahi tahi kōrua ko tō tākuta ki te tautuhi i ngā mea e tino pāngia ana koe, ka nui ake te whai hua o tō maimoatanga.

Te maimoatanga mō te whakaeke kino:

• Werohanga Hemin: Mēnā ka pā mai he whakaekenga kino, ka werohia pea koe e te tākuta ki roto i te uaua. Ka āwhina tēnei ki te whakaiti i te nui o te porphyrin i roto i ō toto. Ko te Hemin he matū e tangohia ana mai i ngā toto whero, ā, ka whakaiti i te nui o te porphyrin i roto i tō tinana.
• Whakamamae mamae: Mēnā he whakaekenga kino, ka hiahiatia pea ngā rongoā whakamamae mamae kaha pērā i ngā opioid.
• Phenothiazines: E whakamahia ana ēnei hei whakahaere i te whakapairuaki me te ruaki kino.
• Ngā wai me te kai totika o te toto: Ko ngā tohu pēnei i te mamae o te puku, te whakapairuaki, te ruaki, te korere, me te mate puku ka ngaro pea ngā kaora me te wai i te tinana i te wā e pāngia ana. Ka taea hoki e te AHP te ngaronga o ngā mea pēnei i te konutai me te konupora. Nō reira, ka taea te hoatu i ngā wai kei roto ngā warowaihā me ngā electrolytes mā te uaua.
• Ngā rongoā mō te hopuhopu:Tata ki te 20% o ngā tūroro e hiahia ana kia rongoatia mō te haurangi i te wā e pā mai ana te mate.

Ngā kōwhiringa maimoatanga mō te wā roa:

• Hemin ārai mate: Mā te hoatu i ngā horopeta iti o te hemin kotahi i te wiki ki te hunga e pāngia pinepine ana e ngā whakaekenga ka ārai i te kohikohinga o ngā porphyrin.
• Givosiran (GIVLAARI®): He momo rongoā ira tēnei. Ka whakaiti i te hanga o ngā matū porphyrin. Kua whakaaetia inaianei hei werohanga ia marama hei ārai i ngā tohumate AHP i roto i te hunga e pāngia pinepine ana e ngā whakaekenga.
• Te rongoā homoni: Mena ko tō huringa paheketanga te take o ō whakaekenga AHP, ka tohua pea e tō tākuta he rongoā pēnei i ngā rongoā GnRH (Gonadotropin-releasing hormone). Ka whakaitihia e ēnei te hanga a te tinana i ngā homoni estrogen me te progesterone.
• Rongoā toto tiketike: Mena ka puta he toto tiketike mau tonu, me whakahaere ma te whakamahi i ngā rongoā motuhake.
• Te whakawhitinga ate: Ko te hunga e pāngia ana e ngā whakaekenga maha, e morearea ana ki te ora, ā, kāore anō kia aro ki ētahi atu maimoatanga, ka whakaaro pea ki te whakawhitinga ate. Ka taea e tēnei te whakaora katoa i te mate.

Ka taea te ārai i te AHP?

Kāore e taea te ārai i te putanga mai o te mate. Heoi, ka taea e koe te āwhina ki te ārai i te putanga mai o ngā tohu mā te karo i ngā mea e whakaoho ana i te mate . Mena kāore anō kia pāngia koe e te whakaekenga, he pai ake te karo i ngā mea e whakaoho ana i te mate. Mena kua pāngia koe e te whakaekenga, ā, kua kitea e koe ngā mea e whakaoho ana i te mate, tera pea he nui noa te karo i aua mea anake.

Anei ētahi o ngā mea e tino kitea ana:

Ngā momo rongoā:

• Ngā rongoā antihistamine (ētahi rongoā mō te makariri me te mate pāwera)
• Ngā rongoā whakangāwari
• Ngā ārai hapūtanga ā-waha
• Te rongoā whakakapinga homoni

Te whakamahinga rauemi:

• Tupeka (`Tupeka`)
• Tarukino
• Waipiro
• Ngā raau taero whakangahau

Te ahotea:

• Ngā mate urutā
• Pokanga
• Te iti o te kai karori (ina koa te iti o te kai warowaihā) ('Te whakaiti karori')
• Te ahotea hinengaro

He aha te heke mai mō te hunga whai AHP? (Matapae)

He rerekē rawa tēnei i ia tangata, i ia tangata. He tokomaha kāore e pāngia e ngā tohu . Mō te hunga e pāngia ana, kotahi, e toru rānei ngā whakaekenga o te nuinga o te tangata i roto i ō rātou oranga. Ahakoa he morearea te mate mō ngā whakaekenga, ka ora katoa te nuinga o te tangata mā te maimoatanga hauora tere . Tata ki te 5% o te hunga whai AHP he maha ngā tohu, he roa rānei. Mō ēnei tāngata, he maha ngā wā ka whai hua ngā rongoā ārai mate, ā, ka whakaarohia pea he huarahi whakamutunga te whakawhitinga ate.

Me pēhea taku tiaki i ahau anō i a au e noho tahi ana me te AHP?

• Āta karohia ngā mea e whakaohooho noa ana i te mate. Ko te waipiro, te kai hikareti, me ngā raau taero me noho hei mea nui i roto i tō rārangi o ngā mea hei karo. Akene me kōrero koe ki tō tākuta mō ngā rongoā hei whakakapi i ētahi o ngā rongoā e tangohia ana e koe.
• Kai i tētahi kai hauora, taurite hoki. Āta karohia te kai tino taumaha me ngā mahere kai iti-warowaihā. Mena kei te nohopuku koe i mua i tētahi whakamātautau hauora, i tētahi pokanga rānei, kōrero ki tō tākuta mō tēnei mea.
• Me tirotiro hauora i ia wā. Ahakoa kāore he tohu, ka tirotirohia tonutia tō ate, ō whatukuhu, me tō toto toto e tō tākuta.

He mate onge te mate ate pōropiri hepatic acute, nō reira he iti te mōhiotanga o te marea mō tēnei mate. Ina pā mai he whakaekenga ohorere me ngā tohu kino, he tino pōhēhē, he whakamataku hoki. Ka pau ngā tau o ētahi tāngata ki te rapu i te āhua o te mate, me te aha hoki e taea e rātou te mahi. Ki te whakapae koe he AHP tōu, ka taea e te whakamātautau ira te whakaū. Kia mōhio koe, he āwhina nui tēnei māu ki te ārai i ngā whakaekenga me te whakahaere i aua whakaekenga.

Ngā mea tino nui me mōhio koe (Karere hei kawe ki te kāinga)

Āe, me whakarāpopoto e au ētahi o ngā mea hei maumahara māu mai i ngā mea kua kōrerohia e tātou:

• He mate ira onge te AHP e tīmata ana i te ate, ā, ka pā ki te pūnaha io .
• Nā te korenga o ngā whākōkī e hiahiatia ana i roto i te tukanga hanga heme tēnei, ka kohikohi ai i roto i te tinana ngā matū paitini e kiia nei ko ngā matū whakataki o te porphyrin .
• Ka rerekē ngā tohu, mai i te mamae puku kino, te mamae io, ngā raruraru hinengaro, ngā raruraru kiri, tae atu ki ngā panonitanga o te tae o tō mimi.
• Ahakoa kei te kitea te whakarerekētanga ira, he onge te puta o ngā tohu me te kore he mea whakaoho ( pērā i ngā homoni, ētahi rongoā, waipiro, me te ahotea).
• He mea nui ngā whakamātautau mimi me ngā whakamātautau ira hei tautuhi i te mate.
• Ko te mea nui ko te whakahaere me te ārai i ngā whakaekenga mā te rongoā. Ka whakamahia te kano ārai mate 'Hemin', ngā rongoā whakamamae, me ētahi rongoā motuhake. I ngā wā tino kino, he otinga anō hoki te whakawhitinga ate.
• Ka taea e koe te noho ora me te mate mā te karo i ngā mea e whakaoho ana i te mate, te whai i tētahi momo noho hauora, me te whiwhi tirotiro hauora auau .

Ko tāku tumanako he whai hua ēnei mōhiohio ki a koe. Kia maumahara, ki te pā mai ēnei tohu ki a koe, kaua e wehi ki te toro atu ki te tākuta me te kōrero mō tēnei.

` Te porphyria ate whakapeka, AHP, ate, pūnaha io, ngā mate ira, ngā porphyrin, ngā tohu, te maimoatanga