Mwana wako mudiki anonzwa kuremara uye kuneta here? Anogara ipapo, asingafambi sevamwe vacheche vezera rake here? Kana kuti zvakaoma here kuti mwana mudiki afambe, amhanye, kana kuti asvetuke? Zvakajairika kuti amai kana baba vatye zvikuru pavanoona chimwe chinhu chakadai. Asi zvinhu izvi hazvisi zvemazuva ose. Nhasi tiri kutaura nezvechirwere chisingawanzoitiki chinokonzera kushaya simba kwetsandanyama, asi chisingazivikanwi zvakanyanya munyika medu. Ichi chirwere chePompe.
Zvichitaurwa zviri nyore, chii chinonzi Pompe Disease?
Chirwere chePompe chirwere chemajini chinokonzera kuunganidzwa kweshuga yakaoma inonzi glycogen mumasero emuviri wedu. Chiri muboka rezvirwere zvinonzi glycogen storage diseases.
Zvakanaka, ngatinzwisise izvi zviri nyore. Muviri wedu une enzyme inonzi acid alpha-glucosidase , kana kuti GAA muchidimbu. Basa guru re enzyme iyi nderekuputsa shuga yakaoma inonzi glycogen yandambotaura nezvayo uye kuishandura kuita shuga yakapfava, glucose, iyo inobatsira muviri wedu kugadzira simba raunoda.
Mumunhu ane chirwere chePompe, muviri haugadzi enzyme iyi yeGAA, kana kuti unoburitsa zvishoma. Saka chii chinoitika ipapo? Sezvo pasina nzira yekuputsa glycogen, inotanga kuungana zvishoma nezvishoma mumasero edu.
Fungidzira kuti muchina wekupwanya marara panzvimbo yekudzokorodza marara waparara. Chii chinoitika ipapo? Marara anoungana ozadza pakati pese, handiti? Ndizvo zvinoitika mukati memasero edu.
Mukati memasero edu mune maorganelle madiki anonzi lysosomes . Aya ndiwo anoshanda senzvimbo dzekudzokorodza marara. Iyo enzyme yeGAA inofanirwa kushanda mukati meaya malysosomes. Kana iyo enzyme isipo, glycogen inoungana mukati meaya malysosomes, ichiakuvadza uye pakupedzisira ichikuvadza sero rese. Kukuvadzwa uku kunowanzo kanganisa tsandanyama dzemwoyo yedu netsandanyama dzemapfupa. Ndosaka zviratidzo zvakaita sekushaya simba kwetsandanyama zvichionekwa.
Chirwere ichi chinozivikanwa nemamwe mazita:
- Kushomeka kweasidhi maltase
- Chirwere chekuchengetedza glycogen rudzi rwechipiri (GSD2)
Ndeapi marudzi makuru echirwere ichi?
Chirwere chePompe chinogona kukamurwa kuita mhando mbiri huru, zvichienderana nezera rekutanga uye kuoma kwezviratidzo. Kuti tikubatsire kunzwisisa mutsauko uripo pakati pemhando mbiri idzi, ngatitarisei tafura iyi.
| Hunhu | Rudzi rwekutanga kwevacheche | Rudzi rwekutanga kunonoka |
|---|---|---|
| Zera rekutanga kwechirwere | Mugore rekutanga rehupenyu, kazhinji rinotanga paanenge mwedzi mina. | Zvinogona kutanga pazera ripi zvaro - muhudiki, kuyaruka, kana kuti munhu mukuru. |
| nhanho ye enzyme yeGAA | Enzyme iyi haipo kana kuti inowanikwa muhuwandu hushoma. | Huwandu hwema enzyme hunoderedzwa, asi huchiri kugadzirwa kusvika pamwero wakati. |
| Kuoma kwezviratidzo | Zvakakomba zvikuru. | Kazhinji kacho kashoma, asi kanogona kukura zvakanyanya nekukura. |
| Mhedzisiro pamwoyo | Mwoyo wakakura (cardiomyopathy) chiratidzo chikuru. | Mikana yekukanganisa moyo yakaderera. |
| Kukurumidza kupararira kwechirwere ichi | Chirwere ichi chinokurumidza kukura. | Chirwere ichi chinokura zvishoma nezvishoma. |
| Kana ikasarapwa | Rufu runogona kuitika pakati pemakore 1-2 nekuda kwekutadza kushanda zvakanaka kwemoyo kana kutadza kufema zvakanaka. | Matambudziko anowanzoitika nekuda kwematambudziko ekufema. |
Ndezvipi zviratidzo zvinogona kuitika zvechirwere chePompe?
Zviratidzo zvinosiyana zvichienderana nerudzi rwechirwere.
Zviratidzo zvekutanga kwevacheche
Murudzi urwu, mwana anogona kusaratidza zviratidzo pakuzvarwa, asi zviratidzo izvi zvinotanga kuonekwa mukati memwedzi mishoma.
- Hypotonia: Ichi ndicho chiratidzo chikuru. Muviri wemwana unoremara uye unonzwa sechidhori chakarembera. Zvakaoma kusimudza musoro kana kutenderera.
- Cardiomegaly: Mwoyo unokura nekuda kwekuunganidzwa kweglycogen mutsandanyama yemwoyo.
- Chiropa chakakura (Hepatomegaly)
- Rurimi rwakakura (Macroglossia)
- Matambudziko ekuwedzera huremu nekukura: Mwana haasi kuwedzera huremu uye haasati akura zvakanaka.
- Kutadza kufema: Kushaya simba kwetsandanyama dzepachipfuva kunoita kuti zviome kufema.
- Kuomerwa nekudya nekunwa: Kuomerwa nekuyamwa nekumedza, izvo zvinogona kukonzera matambudziko nezvinhu zvakaita sekunwa mukaka.
- Kurwara nezvirwere zvekufema (kukosora, dzihwa).
- Kusanzwa zvakanaka.
Zviratidzo zvekunonoka kutanga
Zviratidzo zverudzi urwu hazvina kunyanya kuipa uye zvinokura zvishoma nezvishoma, asi zvinogona kukura zvakanyanya nekufamba kwenguva.
- Kupera simba zvishoma nezvishoma kwemhasuru dzemakumbo nedzemuviri.
- Kutadza kufamba zvakanaka uye kudonha kakawanda.
- Kurwadziwa kwetsandanyama panzvimbo yakakura.
- Kusakwanisa kurovedza muviri.
- Zvirwere zvekufema zvinowanzoitika.
- Kutadza kufema kana waneta (Dyspnea).
- Musoro wemangwanani: Izvi zvinogona kuva chiratidzo chekufema zvisina kurongeka husiku.
- Kuneta zvakanyanya uye hope masikati.
- Kuderedza huremu.
- Kuoma kumedza (Dysphagia).
- Kurova kwemoyo kusina kurongeka (Arrhythmia).
- Kusanzwa zvakanaka.
Sei chirwere ichi chichiitika? Chii chinokonzera?
Ichi chirwere chinokonzerwa nechikonzero chemajini chete. Kune jini rinonzi GAA mumuviri wedu. Iri jini ndiro rinorayira kugadzirwa kwe enzyme yeGAA yataurwa pamusoro apa. Chirwere chePompe chinokonzerwa nekuchinja kwejini iri reGAA. Kuchinja uku kunoderedza kana kumisa zvachose kugadzirwa kwe enzyme yeGAA.
Chirwere ichi chinogara nhaka nenzira inonzi 'Autosomal Recessive' . Izvi zvinorevei?
Fungidzira kuti vabereki vese vari vaviri 'vanotakura' majini asina kunaka echirwere ichi. Izvi zvinoreva kuti hapana kana mumwe wavo ane zviratidzo, asi vese vane kopi imwe chete yejini risina kunaka. Kuti mwana awane chirwere ichi, vabereki vese vanofanira kugara nhaka jini risina kunaka.
Kana vabereki vese vari ivo vanotapurira chirwere ichi, pane mukana we25% wekuti mwana achava nechirwere ichi, mukana we50% wekuti mwana achavawo nechirwere ichi, uye mukana we25% wekuti mwana haazogari nhaka yemajini asina kunaka uye achave neutano hwakanaka.
Chiremba anoongorora sei chirwere ichi?
Kana ukaenda nemwana wako kana iwe pachako kuna chiremba, chinhu chekutanga chavanoita ndechekuongorora muviri wako uye kubvunza nezvenhoroondo yehutano hwemhuri yako. Zvadaro, vanozoita bvunzo shoma kuti vasimbise chirwere chacho.
- Kuongororwa kweropa:
- Kuongororwa kweCreatine Kinase Level: Iyi enzyme inoburitswa muropa kana tsandanyama dzakuvara. Kana tsandanyama dzacho dzakakwira, zvinogona kuratidza kuti tsandanyama dzakuvara.
- Kuongororwa kwemaitiro eenzayimu yeGAA: Uku ndiko kuongororwa kwakanyatsojeka . Ropa rinotorwa uye mashandiro eenzayimu yeGAA anoyerwa. Kana uine chirwere chePompe, mashandiro aya akaderera zvikuru.
- Kuongororwa kweMajini: Kuongororwa uku kunoitwa kuti kusimbiswe kana paine shanduko mujini reGAA.
- Mimwe miedzo:
- Kuongororwa kwebasa remapapu: Kuyera kushaya simba kwetsandanyama dzekufema.
- Electromyography (EMG): Yera mashandiro emagetsi emhasuru.
- Kuongororwa kwemoyo: Kuongororwa kwakadai seECG neEchocardiogram kunoongorora mamiriro emoyo.
- Zvidzidzo zvekurara: Ziva matambudziko ekufema panguva yekurara.
Ndezvipi zvinorapwa izvi?
Kunyange hazvo chirwere chePompe chisingarapike zvachose, kune mishonga inogona kudzora zviratidzo uye kuvandudza hupenyu.
Kurapa kukuru iEnzyme Replacement Therapy (ERT) , iyo inosanganisira kugadzira majini eGAA enzyme isipo uye kuiisa mutsinga kuburikidza nesaline.
- Alglucosidase alfa
- Avalglucosidase alfa
Nemishonga iyi,
- Inoderedza kukura kwemoyo wakakura.
- Inodzoreredza mashandiro emoyo.
- Inovandudza simba remhasuru uye mashandiro adzo.
- Inoderedza kuiswa kweglycogen mumasero.
Pamusoro pekurapwa kweERT uku, murwere anoda rubatsiro runotsigira.Zvakakoshawo kupa rubatsiro. Kuti izvi zviitike, chikwata chevanachiremba vane hunyanzvi hwakasiyana-siyana nevarapi vari kushanda pamwe chete.
- Varapi vemuviri: Ipa maekisesaizi ekusimbisa tsandanyama uye kuvandudza kufamba.
- Varapi vezvemabasa: Batsirai vanhu kuita mabasa ezuva nezuva vari vega.
- Varapi vezvekufema: Kurapa matambudziko ekufema.
- Vanachiremba vemwoyo
- Vanachiremba vetsinga
Zvichienderana nekuoma kwechirwere, murwere angada zvinhu zvakaita semuchina wekufema kana chubhu yekudyisa .
Pamusoro pezvo, masayendisiti ari kuferefetawo nzira dzemazuva ano dzekurapa dzakadai sekurapa majini , izvo zvine chinangwa chekuti muviri ugadzire enzyme yeGAA pachayo nekutsiva jini rakakuvara nerine hutano.
Chii chaungaita kana iwe kana mwana wako aine chirwere ichi?
Kana muine fungidziro diki yekuti imi kana mwana wenyu mune zviratidzo izvi, ndapota musapedza nguva muende kuna chiremba nekukasika. Kana chirwere chikaonekwa nekukurumidza uye kurapwa kukatanga, hupenyu hwemurwere hunogona kuva nani.
Kurarama nedambudziko rakadai hakusi nyore. Ndosaka zvichikosha kutsvaga rubatsiro kubva kuna chiremba wepfungwa. Zvakare, kubatana nemapoka ekutsigirana nevamwe vanhu vane zvirwere zvakafanana nemhuri dzavo kunogona kuva simba guru. Chinhu chikuru chete ndechekunzwa kuti hausi wega.
Unodawo kuzorora uye kugara zvakanaka mupfungwa kuti utarisire mwana wako. Usakanganwa izvozvo.
Bvunza chiremba wako mibvunzo yakaita seiyi:
- Mwana wangu ane chirwere chePompe cherudzii?
- Ndedzipi dzimwe nyanzvi dzatinofanira kuona?
- Ndingaitei kuti mwana wangu anzwe akasununguka?
- Zvakanaka here kuti vamwe vemumhuri vaongororwe majini?
- Ndingawana sei rubatsiro rwekuti ndirambe ndakasimba mupfungwa nechirwere ichi?
Mharidzo Yekuenda Nayo Kumba
- Chirwere chePompe chirwere chakakomba, asi chisingawanzoitiki chemajini chinokonzerwa nekushaikwa kwe enzyme GAA mumuviri.
- Kune mhando mbiri huru dzeizvi: rudzi rwakakomba runoitika muvacheche uye rudzi rwekutanga kunonoka, rusina kunyanya kuoma.
- Zviratidzo zvikuru kushaya simba kwetsandanyama. Muvana vacheche, mwoyo wakakura unoonekwawo.
- Kuongororwa kwechirwere nekukurumidza uye kutanga kurapwa ne enzyme replacement therapy (ERT) kunogona kuvandudza hupenyu hwemurwere uye hupenyu hwake.
- Kana ukaona zviratidzo zvakaita sekushaya simba kwetsandanyama kana kuneta mumwana wako, usazeza kubvunza chiremba wako nekukasika kuti akupe mazano.
💬 Comments (0)
Hapana zvakataurwa parizvino. Isa mhinduro yako pano kekutanga.
Wedzera zvaunofunga