Chii chinonzi Pyruvate Kinase Deficiency? Ngatitaurei nezvazvo zviri nyore!

Nhasi tichataura nezvechirwere chemajini chisingawanzoitiki, asi chakakosha zvikuru. Izvi zvinonzi 'Pyruvate Kinase Deficiency'. Fungidzira, kune enzyme yakakosha mumuviri wedu inobatsira masero matsvuku eropa kugadzira simba, uye inonzi 'Pyruvate Kinase'. Saka, kana pasina enzyme iyi yakakwana mumuviri (ndizvo zvinonzi kushomeka), masero matsvuku iwayo eropa haana simba rekuita basa rawo nemazvo, uye anotanga kuparara nekukurumidza masero matsvuku matsva asati agadzirwa.

Masero matsvuku aya anotakura okisijeni mumiviri yedu yese. Saka kana masero matsvuku eropa akadzikira nekuda kwePyruvate Kinase Deficiency, mamwe masero mumuviri haawani okisijeni yakakwana. Nekuda kweizvozvo, unogona kutanga zviratidzo zveanemia. Ichi chirwere chinowanikwa kubva pakuzvarwa uye chinogara kwenguva yese yehupenyu hwako. Izvi zvinoreva kuti uchafanirwa kutarisirwa nachiremba weropa muhupenyu hwako hwese. Zvisinei, zviratidzo izvi zvinogona kusiyana kubva pamunhu kusvika pamunhu.

Ndezvipi zviratidzo zvePyruvate Kinase Deficiency?

Zviratidzo zvinonyanya kuzivikanwa zve anemia muchirwere ichi ndeizvi:

• Kunzwa kuneta zvakanyanya: Izvi zvinoreva kugara wakaneta, kunyangwe uchiita zvinhu zvidiki diki.
• Kurova kwemoyo: Kunzwa sekuti chipfuva chako chiri kurova kunyangwe wakangomira wakamira.
• Kushaya mweya: Kunzwa kushaya mweya kunyangwe uchishanda nesimba.
• Ganda rakachenuruka: Kana muviri ukarasikirwa neropa, ganda rinochinja ruvara, handiti?
• Dzungu: Kunzwa sekunge uri kutenderera, dzimwe nguva sekunge uchadonha.
• Musoro : Kurwadziwa nemusoro nguva nenguva.

Kuwedzera kune zviratidzo izvi zvekushaya ropa, zvimwe zviratidzo zvinogona kumuka nekuda kwekuunganidzwa kwemarara kubva mumasero matsvuku eropa mumuviri. Ngationei kuti chii:

• Jaundice: Kutsvuka kweganda uye machena emaziso. Izvi zvinokonzerwa nekuunganidzwa kwechinhu chinonzi bilirubin, chinobva mumasero matsvuku eropa akaputsika.
• Chipembenene Chakakura: Chipembenene inhengo iri mumuviri wedu inochengeta masero matsvuku eropa akakuvara. Saka kana paine kukuvara kwakawanda kwemasero, chipembenene chinogona kukura.
• Weti yakasviba: Weti yakasviba kupfuura yakajairika.

Zviratidzo zvinowanzoonekwa pazera ripi?

Kunyange zvazvo Pyruvate Kinase Deficiency (PK Deficiency) iri chirwere chinowanikwa pakuzvarwa, nguva inotora kuti zviratidzo zvionekwe inoenderana nekuoma kwechirwere chako.

Fungidzira, vamwe vacheche vane zviratidzo zvakakomba zvekuti vanoda kurapwa nekukurumidza kunoponesa hupenyu. Vacheche vadiki vanogona kuchema zvakanyanya, kuramba kudya, uye kurega kutamba. Vana vakuru vanogona kunyunyuta nezvekuneta nguva dzese uye kurasikirwa nechido chekumhanya-mhanya nekutamba. Vamwe vakuru vanogona kusatomboziva kuti vane chirwere ichi kusvika chave chinhu chinoshungurudza zvikuru - semuenzaniso, panguva yekuzvitakura, hutachiona hwakakomba, kana kukuvara.

Sei 'Pyruvate Kinase Deficiency' iyi ichiitika?

Ichi chirwere chemajini chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe nekuda kwekusakwana kuri mujini rinonzi `(PKLR)`. Funga nezvazvo sekuti majini edu akafanana nebhuku rinoudza masero edu kuti "ita izvi, ita izvo". Jini rako re`(PKLR)` rinoudza masero matsvuku eropa kuti angagadzira sei enzyme inonzi `Pyruvate Kinase`. Iyi enzyme ye`Pyruvate Kinase` inobatsira masero matsvuku eropa kugadzira `Adenosine Triphosphate` (ATP)`, sosi yesimba.

Saka, mumunhu ane `Pyruvate Kinase Deficiency` (PK Deficiency), nekuda kwekusakwana kwejini re`(PKLR)`, masero matsvuku eropa haakwanise kugadzira enzyme yakakwana ye`Pyruvate Kinase`. Nokudaro, masero matsvuku eropa haakwanise kugadzira simba re`(ATP)` raanoda kuti ararame. Nekuda kweizvozvo, masero iwayo anoputsika nekukurumidza. Ipapo huwandu hwemasero matsvuku eropa mumuviri hunoderera. Izvi zvinonzi `Hemolytic Anemia` , zvinoreva anemia inokonzerwa nekuputsika kwemasero matsvuku eropa.

Mafambiro anoita majini: `(Autosomal Recessive Inheritance)`

Kuti uve ne `Pyruvate Kinase Deficiency` (PK Deficiency), unofanira kugara nhaka majini maviri e`PKLR` asina kunaka . Rimwe kubva kuna amai vako nerimwe kubva kuna baba vako. Izvi ndizvo zvatinodaidza kuti `Autosomal Recessive Inheritance` mukurapa. Kuti izvi zviitike, vabereki vese vanofanira kuva nejini rimwe chete re`PKLR` rakajairika uye rimwe re`PKLR` risina kunaka. Zvisinei, kunze kwekunge vakamboongororwa majini, vangasaziva kuti vane jini iri risina kunaka kana kuti vanogona kuripfuudza kuvana vavo.

Kune vabereki vakadaro, pane mukana mumwe chete pavana (25%) wekuti mwana wavo achagara nhaka majini ese e `(PKLR)` asina kunaka uye ane `Pyruvate Kinase Deficiency`.

Ndiani ari panjodzi huru yechirwere ichi?

Kushaikwa kwePyruvate kinase (PK Deficiency) chirwere chemajini chinopfuudzwa kubva kumubereki kuenda kumwana, uye chinowanzoitika mune mamwe mapoka emadzinza. Chinowanzoonekwa muvanhu vane dzinza rekuNorthern Europe. Chinowanzoonekwawo mune dzimwe nzvimbo dzeAmish muPennsylvania neOhio.

Pane nzira yekuderedza njodzi here?

Hatigone kudzivirira zvirwere zvemajini zvakagarwa nhaka. Zvisinei, unogona kuyedza njodzi yako yekuva nemwana ane Pyruvate Kinase Deficiency. Kana iwe kana mumwe wako ane nhoroondo yemhuri yechirwere ichi, zvakanaka kutaura nenyanzvi yezvemajini. Vanogona kutsanangura bvunzo dzeDNA dziripo uye vanogona kukubatsira kunzwisisa mhedzisiro inogona kuitika panguva yekuzvitakura.

Ndezvipi zvinetso zvinogona kuitika nekuda kwechirwere ichi?

Vamwe vanhu vanongozoona kuti vane Pyruvate Kinase Deficiency mushure mekunge matambudziko amuka. Matambudziko akadaro anosanganisira:

• Matombo eGallstone: Matombo eGallstone anogona kuumbwa mugallstone.
• Kuwanda kwesimbi: Kuwanda kwesimbi kunogona kuitika nekuda kwekurwara kana kuwedzerwa ropa nguva nenguva.
• Maronda asingapore pamakumbo (`(Maronda Emakumbo)`).
• Pulmonary Hypertension: Kuwedzera kwedzvinyiriro mutsinga dzeropa dzakabatana nemapapu.
• Kupera simba kwemapfupa: Izvi zvinowedzera njodzi yekutyoka mapfupa uye njodzi yekubatwa nezvirwere zvakaita se osteoporosis sezvatinokura.
• Matambudziko panguva yekuzvitakura: zvinhu zvakaita sekubuda kwepamuviri, kusununguka nguva isati yakwana, nezvimwewo.

Kubata pamuviri inguva yekushushikana kukuru mumuviri. Izvi zvinogona kutungamira kuzviratidzo zvitsva kana kuti zvinoramba zvichiwedzera zvekushaikwa kwe pyruvate kinase (PK Deficiency). Zvinogonawo kukanganisa mwana asati aberekwa. Zvisinei, matambudziko epamuviri haawanzoitiki. Kana uine pamuviri, chiremba wako wezvemadzimai negynecologist vachashanda nechiremba wako weropa kuti iwe nemwana wako mugare makachengeteka.

Vanachiremba vanoongorora sei chirwere ichi?

Kana mwana ari mudumbu aine zviratidzo zvePyruvate Kinase Deficiency, dzimwe nguva anogona kuonekwa panguva yekuongorora ultrasound asati aberekwa. Kana zvichifungidzirwa kuti izvi zvinogona kuitika, vanachiremba vanogona kuongorora chirwere chacho. Semuenzaniso, kuunganidzwa kwemvura mumuviri wemwana ari mudumbu (Hydrops Fetalis) chiratidzo chimwe chenyevero.

Kana iwe kana mwana wako muine zviratidzo zvekushaikwa kwe pyruvate kinase (PK Deficiency), chiremba acharaira kuongororwa ropa kakawanda. Miedzo iyi ichatsvaga:

• Anemia: Kuongororwa kweropa uku kunoongorora kana uine hemolytic anemia. Sezvo anemia ichigona kuva nezvikonzero zvakawanda, kuongororwa kweropa uku kunobatsirawo kubvisa zvimwe zvinokonzera.
• Kana basa re enzyme ye `pyruvate kinase` rakaderera: Kuongororwa kwemakemikari kunogona kuyera kuti enzyme yako ye `pyruvate kinase` inoshanda zvakadii. Kana `pyruvate kinase deficiency`, basa rayo rakaderera.
• Pane kuchinja kuri kuitika mujini re`(PKLR)` here?Kuongororwa kwemamorekuru kunogona kuona zvikanganiso zviri mujini rePKLR zvinokonzera chirwere ichi.

Kushaya simba kwePyruvate Kinase kunorapwa sei?

Kurapwa kunoenderana nekuti zviratidzo zvako zvakakomba sei uye kuti chirwere chacho chakaonekwa riini.

Kune vana vacheche nevachangoberekwa vari mudumbu

Vana vacheche nevana vachangoberekwa vane Pyruvate Kinase Deficiency vangada kurapwa kunoponesa hupenyu. Mienzaniso:

• Kuisirwa Mwana Mudumbu: Mwana ari mudumbu ane pyruvate kinase deficiency (PK Deficiency) angada kurapwa asati aberekwa. Mukuita uku, masero matsvuku eropa anobva kune anopa mwana anobayiwa mudumbu.
• Kurapa nePhototherapy: Izvi zvinobatsira kuputsa tsvina inonzi bilirubin inoungana mumuviri wemwana achangoberekwa. Jaundice inomuka kana bilirubin yaungana.
• Kuwedzerwa ropa: Vana vacheche vane jaundice yakanyanya vangada kurapwa uku. Pano, ropa remwana rinotsiviwa neropa rinobva kune anopa ropa.

Kune vacheche, vana nevakuru

Kurapa uku kunogona kudzora zviratidzo zvekushaya ropa uye kudzivirira matambudziko anokonzerwa nekushaikwa kwe pyruvate kinase (kushaikwa kwePK).

• Kuwedzerwa Ropa: Ungangoda kuwedzerwa ropa muhupenyu hwako hwese kuti utsive huwandu hwemasero matsvuku eropa ako hwakaderera. Zvisinei, vamwe vanhu vangangoda kuwedzerwa ropa nguva nenguva pavanenge vachikura, asi kuda uku kunogona kupera pavanenge vachikura.
• Mitapivat (Pyrukynd®): Uyu mushonga mutsva unoshandiswa kurapa Pyruvate Kinase Deficiency uye Hemolytic Anemia muvanhu vakuru. US Food and Drug Administration (FDA) yakaubvumidza muna 2022.
• Zvikafu Zvinowedzera Folic Acid: Folic acid chinhu chinobatsira muviri kugadzira masero matsvuku eropa. Kana usingawani folic acid yakakwana kubva muzvikafu zvaunodya, ungangoda kutora chimwe chinhu chinovaka muviri.
• Kurapa neIron Chelation: Kuwanda kwesimbi mumuviri kunogona kuungana, kungave nekuda kwechirwere chacho kana nekuda kwekuwedzerwa ropa kakawanda. Kurapa uku kunobvisa simbi yakawandisa.
• Kubviswa kwetsvina (Spleenectomy): Tsvina yako inzvimbo inochengeterwa masero matsvuku eropa akatyoka. Kana uine Pyruvate Kinase Deficiency, inogona kukura zvakanyanya. Kana izvi zvikaitika, chiremba angangoda kuibvisa.
• Kubviswa kweGallbladder (Cholecystectomy): Kushaikwa kwePyruvate Kinase kunogona kukonzera kuumbwa kwematombo emunduru. Kana zvikakonzera matambudziko, chiremba wako anogona kukurudzira kubvisa gallbladder yako.

Vatsvakurudzi vari kuferefetawo nzira itsva dzekurapa, dzinosanganisira:

• Kudyarwa kweMasero Eropa: Mukuita uku, unowana masero eropa kubva kune anopa. Masero aya anobva akura kuita masero matsvuku eropa ane hutano.
• Kurapa Majini: Izvi zvinosanganisira kutsiva jini risina kunaka rinokonzera Pyruvate Kinase Deficiency nejini rine hutano.

Unofanira kuona chiremba rini?

Uchafanira kuona chiremba weropa nguva nenguva kuti aongorore huwandu hwemasero matsvuku eropa rako. Vachaongororawo matambudziko akadai sekuwanda kwesimbi mumuviri.

Vachakuudza kuti ndeapi marapirwo aunoda kuti utevere zvichienderana nemamiriro ako ezvinhu. Saka, zvakakosha kuti utevedzere mirairo yachiremba wako.

Chii chaungatarisira kana uchirarama nechirwere ichi?

Ruzivo rwako ruchaenderana nezviratidzo zvako uye kurapwa kwako. Matambudziko ekushomeka kwe pyruvate kinase (PK Deficiency) anogonawo kukanganisa ruzivo rwako. Zvakare, ruzivo rwako runogona kuchinja muhupenyu hwako. Semuenzaniso, vana vaida kuwedzerwa ropa nguva nenguva sevana vanogona kusazoda kuwedzerwa ropa sevanhu vakuru. Vamwe vakuru vanogona kusaratidza zviratidzo kusvika vaita dambudziko guru rehutano.

Chiremba wako ndiye munhu akakodzera kutsanangura kuti Pyruvate Kinase Deficiency ichakanganisa sei hutano hwako hwenguva refu.

Kana uine pyruvate kinase deficiency (PK Deficiency), chiremba wako achakutarisa zvakanyanya. Uchada kuongororwa nguva nenguva kuti uve nechokwadi chekuti une masero matsvuku eropa akakwana. Ungangoda kuwedzerwa ropa kudzivirira anemia yakanyanya. Kana kuti, ungangoda kurapwa zvachose. Hapana mhinduro chaiyo kune zvakaitika kwauri nechirwere ichi. Chinhu chakakosha ndechekuongororwa uye kuwana rubatsiro rwakakodzera kubva kuna chiremba. Masero ako matsvuku eropa ndiwo anokubatsira. Kuva nawo akawanda kwakakosha kuti uve neutano hwakanaka.

Pakupedzisira, yeuka izvi.

Kushaya Pyruvate Kinase chirwere chakaoma uye chinogona kugara kwenguva refu. Asi usazvidya mwoyo. Kana ukanyatsoongororwa, kurapwa, uye mazano enyanzvi, unogona kurarama nechirwere ichi zvinobudirira. Kana iwe kana mumwe munhu waunoziva aine zviratidzo izvi, enda kuna chiremba nekukasika. Yeuka, kana ukaongororwa nekukurumidza, mikana yako yekuwana kurapwa uye kuderedza matambudziko inowedzera. Hausi wega, uye kune vanachiremba nevanoona nezveutano kuti vakubatsire parwendo urwu.

'Kushaikwa kwePyruvate Kinase, masero matsvuku eropa, anemia, jini rePKLR, enzyme, spleen, zvirwere zvemajini