He aha te ngoikore o te Pyruvate Kinase? Me kōrero māmā noa iho!

I tēnei rā ka kōrero tātou mō tētahi āhuatanga ira onge, engari he mea tino nui. Ko te ingoa o tēnei ko te 'Pyruvate Kinase Deficiency'. Whakaarohia, kei roto i tō tātou tinana tētahi whākōkī motuhake e āwhina ana i ngā pūtau toto whero ki te hanga pūngao, ko te ingoa o tēnei ko te 'Pyruvate Kinase'. Nō reira, ina kore e ranea tēnei whākōkī i roto i te tinana (koinei te mea e kiia nei ko te ngoikore), kāore e taea e aua pūtau toto whero te mahi tika i tā rātou mahi, ā, ka tīmata wawe te pakaru i mua i te taea te hanga i ngā pūtau toto whero hou.

Ka haria e ēnei toto whero te hāora puta noa i ō tātou tinana. Nō reira, ina heke ngā toto whero nā te ngoikore o te Pyruvate Kinase, kāore e nui te hāora e whiwhihia ana e ētahi atu pūtau o te tinana. Nō reira, ka puta pea ngā tohu o te anemia. He mate tēnei e kitea ana mai i te whānautanga, ā, ka mau tonu mō te roanga o tō oranga. Ko te tikanga me noho koe i raro i te tirotiro a te tohunga toto mō te roanga o tō oranga. Heoi, ka rerekē pea ēnei tohu i ia tangata, i ia tangata.

He aha ngā tohu o te ngoikore o te Pyruvate Kinase?

Ko ngā tohu tino kitea o te anemia i roto i tēnei mate ko:

• Te tino ngenge: Ko te tikanga tēnei he ngenge tonu, ahakoa te mahi i te mea iti rawa.
• Ngā Pāpātanga: Te āhua nei kei te pā te uma ahakoa kei te tū noa koe.
• Te poto o te manawa: Te poto o te manawa ahakoa he iti noa te whakapau kaha.
• Kiri mā: Ina ngaro te toto i te tinana, ka huri te tae o te kiri, tika?
• Whatiwhati: He āhua hurihuri, i ētahi wā me te mea ka hinga koe.
• Ānini upoko : He maha ngā ānini upoko.

Haunga ēnei tohumate o te anemia, tera pea ka puta ake ētahi atu tohumate nā te kohikohinga o ngā para mai i ngā toto toto whero pakaru i roto i te tinana. Kia tirohia tātou he aha ēnei tohumate:

• Te kiri māwhero: He kōwhai te kiri me te mā o ngā kanohi. Nā te nui haere o te matū e kiia nei ko te bilirubin, e ahu mai ana i ngā toto whero kua pakaru.
• Te Whatu Nui: Ko te whatu he okana i roto i te tinana e penapena ana i ngā toto whero pakaru. Nō reira, ina nui rawa te kino o ngā pūtau, ka taea te whakanui ake i te whatu.
• Mimi pōuri: He mimi pōuri ake i te mimi noa.

I tehea tau ka puta mai ngā tohu?

Ahakoa he mate kei te whānau mai te Pyruvate Kinase Deficiency (PK Deficiency), ko te roa o te wā e puta ai ngā tohu ka whakawhirinaki ki te kaha o tō mate.

Whakaarohia, he tino kino ngā tohu o ētahi pēpi hou, ā, me tere tonu te rongoā hei whakaora i a rātou. Tērā pea ka nui te tangi a ngā pēpi nohinohi, ka kore e kai, ka mutu te tākaro. Tērā pea ka amuamu ngā tamariki pakeke mō te ngenge tonu, ā, ka ngaro te hiahia ki te oma haere me te tākaro. Tērā pea kāore ētahi pakeke e mōhio kei a rātou te mate tae noa ki te wā e tino pāngia ai rātou e te ahotea nui—hei tauira, i te wā e hapu ana, i te mate kino, i te whara rānei.

He aha i puta ai tēnei 'Pyruvate Kinase Deficiency'?

He mate ira tēnei e tukuna iho ana i tētahi whakatipuranga ki tētahi whakatipuranga nā te hapa o tētahi ira e kiia nei ko te `(PKLR)`. Whakaarohia he rite ō tātou ira ki tētahi pukapuka e kī ana ki ō tātou pūtau "meatia tēnei, meatia tēnā". E kī ana tō ira `(PKLR)` ki ngā pūtau toto whero me pēhea te hanga i tētahi whākōkī e kiia nei ko te `Pyruvate Kinase`. Mā tēnei whākōkī `Pyruvate Kinase` ka āwhina ngā pūtau toto whero ki te hanga `Adenosine Triphosphate` (ATP)`, he pūtake pūngao.

Nō reira, i roto i te tangata he `Pyruvate Kinase Deficiency` (PK Deficiency), nā te hapa o te ira `(PKLR)`, kāore e taea e ngā toto whero te whakaputa i te whākōkī `Pyruvate Kinase` e ​​ranea ana. Nō reira, kāore e taea e ngā toto whero te whakaputa i te pūngao `(ATP)` e hiahiatia ana e rātou hei oranga. Nō reira, ka tere te pakaru o aua pūtau. Kātahi ka heke te maha o ngā toto whero i roto i te tinana. Ka kiia tēnei ko te `Hemolytic Anemia` , arā, ko te anemia i puta mai i te pakaru o ngā toto whero.

Te tukunga iho o ngā ira: `(Autosomal Recessive Inheritance)`

Hei whakawhanake i te 'Pyruvate Kinase Deficiency' (PK Deficiency), me whiwhi koe i ngā ira 'PKLR' hapa e rua . Kotahi mai i tō whaea, kotahi mai i tō pāpā. Koinei te mea e kiia nei e mātou ko te 'Autosomal Recessive Inheritance' i roto i te rongoā. Kia puta ai tēnei, me whiwhi ngā mātua e rua i te ira 'PKLR' noa me te ira 'PKLR' hapa kotahi. Heoi, ki te kore rātou e whai whakamātautau ira, kāore pea rātou e mōhio kei a rātou tēnei ira hapa, kāore rānei e taea e rātou te tuku atu ki ā rātou tamariki.

Mō tētahi tokorua pēnei, kotahi i roto i te whā (25%) te tūponotanga ka riro i tā rāua tamaiti ngā ira `(PKLR)` hapa, ā, ka whiwhi hoki ia i te `Pyruvate Kinase Deficiency`.

Ko wai kei te nui ake te mōrearea mō tēnei mate?

Ko te ngoikore o te Pyruvate kinase (PK Deficiency) he mate ira e tukuna iho ana mai i te mātua ki te tamaiti, ā, he nui ake te kitea i roto i ētahi iwi. Ko te nuinga o te wā ka kitea i roto i te hunga nō te raki o Ūropi. He mea noa anō hoki i roto i ētahi hapori Amish i Pennsylvania me Ohio.

He ara hei whakaiti i te mōrearea?

Kāore e taea e mātou te ārai i ngā āhuatanga ira tuku iho. Heoi, ka taea e koe te whakamātautau i tō tupono ki te whānau tamariki me te Pyruvate Kinase Deficiency. Mena he hītori whānau tōu, tō hoa rānei mō tēnei āhuatanga, he mea pai kia kōrero koe ki tētahi kaitohutohu ira. Ka taea e rātou te whakamārama i ngā whakamātautau DNA e wātea ana, ā, ka taea hoki e rātou te āwhina i a koe ki te mārama ki ngā hua ka puta i te wā e hapu ana.

He aha ngā raruraru ka puta mai i tēnei āhuatanga?

Ka kitea e ētahi tāngata kei a rātou te ngoikore o te Pyruvate Kinase i muri i te puta mai o ngā raruraru. Ko ētahi o ēnei raruraru ko:

• Ngā kōhatu kapia: Ka taea e ngā kōhatu kapia te hanga i roto i te gallbladder.
• Te nui rawa o te rino: Ka puta pea te nui rawa o te rino nā te mate, nā te maha rānei o ngā whakawhiti toto.
• Ngā patunga kore e ora i ngā waewae (`(Ngā Mate Pukupuku Waewae)`).
• Te toto toto tiketike o te pūkahukahu: Te pikinga o te pēhanga i roto i ngā oko toto e hono ana ki ngā pūkahukahu.
• Te ngoikore o ngā wheua: Ka piki ake te mōrearea o ngā whati wheua me te mōrearea o te whakawhanake i ngā mate pēnei i te osteoporosis i a tātou e kaumātuatia ana.
• Ngā raruraru i te wā e hapu ana: ngā mea pēnei i te materoto, te whānautanga wawe, me ētahi atu

He wā taumahatanga nui te hapūtanga mō te tinana. Ka taea e tēnei te arahi ki ngā tohu hou, ki ngā tohu kino rānei o te ngoikore o te pyruvate kinase (PK Deficiency). Ka pā hoki ki te pēpi kāore anō kia whānau. Heoi, he onge ngā raruraru hapūtanga. Mena kei te hapū koe, ka mahi tahi tō tākuta whānau me tō tākuta tākuta wahine me tō tākuta toto kia noho haumaru ai koe me tō pēpi.

Me pēhea te tautuhi a ngā tākuta i tēnei mate?

Mena kei roto i te kōpū ngā tohu o te ngoikore o te Pyruvate Kinase, ka kitea pea i te wā o te matawai ultrasound i mua i te whānautanga. Mena kei te whakapaetia tēnei, ka taea e ngā tākuta te whakamātautau mō te mate. Hei tauira, ko te wai e pupū ake ana i roto i te tinana o te tamaiti (Hydrops Fetalis) tētahi tohu whakatūpato.

Mena kei a koe, kei tāu tamaiti rānei ngā tohu o te ngoikore o te pyruvate kinase (PK Deficiency), ka whakahau te tākuta i ētahi whakamātautau toto. Ka rapua e ēnei whakamātautau:

• Anemia: Ka tirohia e tēnei whakamātautau toto mēnā he anemia hemolytic tōu. Nā te mea he maha ngā take o te anemia, ka āwhina hoki tēnei whakamātautau toto ki te whakakore i ētahi atu take.
• Mēnā he iti te mahi a te whākōkī `pyruvate kinase`: Ka taea e ngā whakamātautau matū koiora te ine i te kaha o te mahi a tō whākōkī `pyruvate kinase`. Mēnā he `korenga pyruvate kinase`, he iti tōna mahi.
• He whakarerekētanga ira kei roto i te ira `(PKLR)`?Ka taea e ngā whakamātautau ngota ngota te kite i ngā hapa o te ira PKLR e puta ai tēnei mate.

Me pēhea te rongoā i te ngoikore o te Pyruvate Kinase?

Ko te maimoatanga e whakawhirinaki ana ki te kaha o ō tohu me te wā i tautuhia ai te mate.

Mō ngā pēpi me ngā pēpi hou i roto i te kōpū

Ko ngā pēpi me ngā pēpi hou e pāngia ana e te ngoikore o te Pyruvate Kinase, me whai maimoatanga whakaora ora pea.

• Te Whakawhitinga toto ki roto i te kōpū: Me rongoā pea te tamaiti e pangia ana e te ngoikore o te pyruvate kinase (PK Deficiency) i mua i te whānautanga. I roto i tēnei tikanga, ka werohia ngā toto whero mai i te kaituku toto ki roto i te kōpū.
• Whakaora-ataata: Ka āwhina tēnei ki te wawahi i tētahi para e kiia nei ko te bilirubin e kohikohi ana i roto i te tinana o te pēpi hou. Ka puta te jaundice ina kohikohi te bilirubin.
• Te Whakawhitinga Ira: Me whai maimoatanga pea ngā pēpi whānau hou e pāngia ana e te jaundice kino. I konei, ka whakakapia te toto o te pēpi ki te toto mai i te kaituku.

Mō ngā pēpi, ngā tamariki me ngā pakeke

Ka taea e ēnei maimoatanga te whakahaere i ngā tohumate o te anemia me te ārai i ngā raruraru i puta mai i te ngoikore o te pyruvate kinase (te ngoikore o te PK).

• Ngā Whakawhiti Toto: Tērā pea ka hiahiatia he whakawhiti toto puta noa i tō oranga hei whakakapi i te iti o ngā toto whero. Heoi, tera pea ka hiahiatia he whakawhiti toto auau i ētahi tāngata i a rātou e pakeke haere ana, engari ka ngaro pea tēnei hiahia i a rātou e pakeke haere ana.
• Mitapivat (Pyrukynd®): He rongoā hou tēnei e whakamahia ana hei rongoā i te ngoikore o te Pyruvate Kinase me te mate toto toto i roto i ngā pakeke. I whakaaetia e te US Food and Drug Administration (FDA) i te tau 2022.
• Ngā Tāpiringa Waikawa Folic: He matūkai te waikawa folic e āwhina ana i te tinana ki te hanga i ngā toto whero. Ki te kore e nui te waikawa folic e whiwhihia ana e koe mai i ngā kai e kainga ana e koe, me tango pea koe i tētahi tāpiringa.
• Whakaora Chelation Rino: Ka taea e te nui rawa o te rino te hanga i roto i te tinana, nā te mate tonu, nā te maha rānei o ngā whakawhiti toto. Ka tangohia e tēnei whakaora te rino nui rawa.
• Te Tango i te Whati (Splenectomy): Ko tō whai te wāhi e rongoa ai ngā toto whero pakaru. Mēnā he ngoikore tō Pyruvate Kinase, ka nui rawa atu. Mēnā ka tupu tēnei, me tango pea e te tākuta.
• Te Tango i te Pūngāwerewere (Cholecystectomy): Ka taea e te ngoikore o te Pyruvate Kinase te hanga i ngā kōhatu pūngāwerewere. Mena ka puta he raruraru, ka tūtohu pea tō tākuta kia tangohia tō pūngāwerewere.

Kei te rangahau anō hoki ngā kairangahau i ngā maimoatanga hou, tae atu ki:

• Te Whakatō Pūtau Taketake: I tēnei tikanga, ka whiwhi koe i ngā pūtau take mai i tētahi kaituku. Kātahi ka whanake ēnei pūtau hei pūtau toto whero hauora.
• Whakaora Ira: Kei roto i tēnei ko te whakakapi i te ira hapa e hua ai te ngoikore o te Pyruvate Kinase ki tētahi ira hauora.

Āhea koe me toro atu ki te tākuta?

Me toro atu koe ki tō tākuta toto i ia wā, i ia wā, hei tirotiro i te taumata o ō toto whero. Ka tirohia hoki e rātou ngā raruraru pēnei i te nui rawa o te rino.

Mā rātou koe e kī atu ki te tiaki whai muri e hiahiatia ana e koe i runga i tō āhua. Nō reira, he mea tino nui kia whai koe i ngā tohutohu a tō tākuta.

He aha tāu e tumanako ai ina noho tahi koe me tēnei mate?

Ka whakawhirinaki ō wheako ki ō tohu me te maimoatanga. Ka pāngia hoki tō wheako e ngā raruraru o te ngoikore o te pyruvate kinase (PK Deficiency). Waihoki, ka rerekē pea ō wheako i roto i tō oranga. Hei tauira, ko ngā tamariki i hiahia ki ngā whakawhiti toto auau i a rātou e tamariki ana, kāore pea e hiahiatia ana i a rātou e pakeke ana. Ko ētahi pakeke kāore pea e pāngia e ngā tohu tae noa ki te pāngia e te raruraru hauora nui.

Ko tō tākuta te tangata pai rawa atu hei whakamārama i te pānga o te ngoikore o te Pyruvate Kinase ki tō hauora mō te wā roa.

Mena he ngoikore tō pyruvate kinase (PK Deficiency) ka tirotirohia koe e tō tākuta. Me whakamātau tonu koe kia mōhio ai he nui ō toto whero. Me whakawhiti toto pea koe hei ārai i te anemia kino. Kāore rānei koe e hiahia ki tētahi maimoatanga. Kāore he whakautu tino tika mō tō wheako ki tēnei mate. Ko te mea nui ko te kimi i te tākutatanga me te whiwhi i te tiaki tika mai i tētahi tohunga. Ko ō toto whero te toto ora. He mea nui te nui o ēnei toto hei oranga mōu.

Hei whakamutunga, kia mahara ki tēnei.

He mate uaua te ngoikore o te Pyruvate Kinase, ā, ka roa pea te wā e ora ai koe. Kaua e manukanuka. Mā te tātaritanga tika, te maimoatanga, me ngā tohutohu a te tohunga, ka taea e koe te ora me tēnei mate me te angitu. Mena kei a koe, kei tētahi rānei e mōhio ana koe ēnei tohu, me toro atu ki te tākuta tonu. Kia maumahara, ko te wawe o te tātaritanga, ka nui ake ō tupono ki te whiwhi maimoatanga me te whakaiti i ngā raruraru. Kāore koe i te mokemoke, ā, kei reira ngā tākuta me ngā kaiwhakarato hauora hei āwhina i a koe i tēnei haerenga.

`Te ngoikore o te Pyruvate Kinase, ngā toto whero, te anemia, te ira PKLR, te whākōkī, te whēkau, ngā mate ira