Muviri kana weti yemwana wako achangoberekwa inonhuwirira zvinotapira zvisinganzwisisike here, semapuroteni emuchindwe? Ungafunga kuti zvakajairika. Asi zvinogona kuva chiratidzo chechirwere chakakomba chisingafanirwe kufuratirwa uye chinoda kurapwa nekukurumidza. Chirwere ichi chinonzi chirwere chemuchindwe chemuchindwe chemuchindwe chemuchindwe chemuchindwe, kana kuti MSUD muchidimbu. Nhasi, tichataura nezvazvo nenzira iri nyore uye iri nyore kunzwisisa.
Chii chinonzi chirwere chemushonga wemvura yemumaple syrup (MSUD)?
Zvichitaurwa zviri nyore, chirwere cheMaple Syrup Urine Disease (MSUD) chirwere chemajini chinowanikwa pakuzvarwa, chinogara kweupenyu hwese, uye chinogona kutyisidzira hupenyu kana chikasarapwa nemazvo. Idambudziko remetabolism. Dambudziko remetabolism rinogona kunzwika serakaoma kwauri. Asi zviri nyore kwazvo. Zvinoreva kuti pane dambudziko riripo mukuita kuti muviri wedu uchinje chikafu chatinodya kuita simba.
MuMSUD, miviri yedu haikwanise kuputsa maamino acids nemazvo, zvinovaka mapuroteni, uye kuashandura kuita simba. Dambudziko iri rinowanzoitika nemaamino acids matatu kunyanya:
- Leucine
- Isoleucine
- Valine
Muvanhu vanozvarwa vaine MSUD, maamino acid matatu aya haaparadzwe zvakanaka mumuviri, saka anoungana mumuviri kusvika padanho rechepfu . Hunhu uhwu hwechepfu ndicho chiratidzo chikuru chechirwere, chinova kunhuhwirira kwemapuroteni emumaple kana shuga yakatsva muweti , wakisi yemunzeve, uye ziya.
Kana mukaona chimwe chezviratidzo izvi mumwana wenyu, tsvagai rubatsiro rwechiremba nekukasika. Kana zvikasarapwa nekukasika, MSUD inogona kukonzera matambudziko akakomba, akadai sekukura zvishoma nezvishoma, kuremara kwepfungwa, uye kunyange kufa.
Ndedzipi mhando huru dzeMSUD?
MSUD inogona kukamurwa kuita mhando huru ina. Hadzisi mhando dzese dzakafanana. Dzimwe dzakanyanya kuoma, nepo dzimwe dzisina kunyanya kuoma.
| Rudzi rwechirwere | Tsananguro |
|---|---|
| MSUD yekare | Iyi ndiyo mhando yeMSUD yakanyanya kuipa uye inowanzoonekwa. Zviratidzo zvinowanzoonekwa mukati memazuva matatu ekutanga mushure mekuzvarwa. |
| MSUD yepakati | Rudzi urwu haruna kunyanya kuipa kupfuura rudzi rwekare. Zviratidzo zvinowanzoonekwa pakati pemwedzi mishanu nemakore manomwe. |
| MSUD inongogara iripo | Vana vane rudzi urwu vanokura zvakanaka, asi zviratidzo zvinongoerekana zvaonekwa kana muviri wabatwa nechirwere kana kana paine kushushikana kwepfungwa. |
| MSUD inopindura thiamine | Rudzi urwu rwakasiyana zvikuru. Varwere ava vanopindura zvakanaka kana vakarapwa nevhitamini B1 yakawanda (thiamine). Pamwe chete neizvozvo, kutarisirwa kwekudya kunodiwawo. |
Chirwere ichi chinowanzoitika here?
Kwete. MSUD chirwere chisingawanzoitiki . Pasi rose, chinongobata mwana mumwe chete pavana 185,000 vanoberekwa.
Zvisinei, chirwere ichi chakajairika pakati pemamwe mapoka emadzinza. Izvi zvinonyanya kuitika pakati pevanhu vanobva mumhuri imwe chete kana dzinza rimwe chete, kureva kuti, vanhu vanoroorana nehama dzepedyo. Izvi zvinodaro nekuti jini rinokonzera chirwere ichi rakawanda munharaunda idzodzo.
Ndezvipi zviratidzo zveMSUD? Nzira yekuziva sei dambudziko rekukurumidza?
Zvakakosha kuziva zviratidzo nekuti zvinobatsira kutanga kurapwa nekukurumidza.
Fungidzira amai vane mwana achangoberekwa vanoona kunhuhwirira kusinganzwisisike, kunotapira pavanochinja manapukeni emwana wavo kana kumumbundira. Pakutanga, ungasateerera. Asi mushure memazuva maviri kana matatu, mwana haatombokwanisi kunwa mukaka, anogara achichema, uye anoita seaneta. Apa ndipo paunofanira kukurumidza kufunga kuti izvi hazvina kujairika.
Kana chirwere ichi chikasarapwa, chinogona kukonzera dambudziko re metabolic process, dambudziko rine njodzi huru.
| Zviratidzo zvepakutanga | Zviratidzo zveDambudziko reMetabolic |
|---|---|
| Kunhuhwirira kwakanaka kunobva muweti , ziya, kana wakisi yenzeve. | Kusunga tsandanyama zvisina kujairika (musoro wemwana, mutsipa, uye musana wake zvinokotama zvichidzokera shure). |
| Kuneta, hope, uye kushaya hupenyu. | Kubatwa nepfari kana kugwinha (kufamba kwemuviri kusingadzoreki). |
| Kugara uchichema uye kushaya zororo. | Kurutsa. |
| Kuramba kudya (kusanwa mukaka). | Kushaya simba. |
Cherechedza: Dambudziko remetabolism chirwere chinoisa upenyu panjodzi. Kana ukaona zviratidzo izvi, unofanira kuendesa mwana wako kuchipatara (ETU) nekukurumidza.
Kunyangwe muvana nevakuru vanoonekwa vaine MSUD, rudzi urwu rwedambudziko remetabolism rinogona kukonzerwa nechimwe chinhu chakadai sehutachiona, tsaona, kana kushushikana kwakanyanya. Saka zvakakosha kugara uchiziva izvi.
Sei chirwere ichi chichiitika?
MSUD inokonzerwa nekuchinja kwemajini , uko kunobva kuvabereki kuenda kuvana.
Zvichitaurwa zviri nyore, miviri yedu inoda rudzi rwakakosha rwe enzyme kuti iparadze ma amino acids atakataura nezvawo kare: leucine, isoleucine, uye valine. Majini edu anotirayira kugadzira ma enzyme aya.
Munhu ane MSUD ane chikanganiso, kana kuti chikanganiso, mumajini aya anopa mirairo. Izvi zvinokonzera:
- Enzyme yakakodzera inogona kunge isina kugadzirwa zvachose mumuviri.
- Kana kuti, ma enzymes mashoma anogona kugadzirwa .
- Dzimwe nguva, kunyangwe ma enzyme achigadzirwa, anogona kusashanda zvakanaka .
Chero chikonzero chipi zvacho, chinozoitika ndechekuti maamino acid matatu aya anoungana mumuviri uye anosvika padanho rine chepfu.
Chirwere ichi chinogarwa nhaka sei?
Izvi zvinogara nhaka nenzira ye autosomal recessive pattern . Izvi zvinonzwika seshoko rakaoma, handiti? Ngatizvichengetedze zviri nyore.
Kuti mwana awane chirwere ichi, amai nababa vanofanira kunge vari ivo vanotakura jini rakakanganisika. Chinotakurwa chinoreva kuti munhu wacho ane kopi yakanaka uye kopi isina kunaka yejini iri mumuviri wake. Zvine chirwere ichi hazvibate. Izvi zvinodaro nekuti kopi yakanaka yejini iyi inogadzira enzyme inodiwa.
Zvisinei, kana vabereki vese vari vanachire, mwana anogona kugara nhaka yejini rakakanganisika kubva kuna amai nababa. Mwana anogona chete kuva neMSUD kana majini ese akakanganisika akagara nhaka.
Ndezvipi zvinetso zvinogona kukonzera chirwere ichi?
Chepfu dzinoungana mumuviri dzinogona kukuvadza nhengo dzedu dzakawanda. Kana dzikasarapwa kana kuti dzikasatarisirwa zvakanaka, matambudziko anotevera anogona kuitika:
- Kukuvara kwehuropi , matambudziko etsinga, uye kunonoka kukura kwemuviri.
- Kuwanda kwenjodzi dzezvirwere zvepfungwa zvakaita sekushaya hanya zvakanyanya (ADHD), kuzvidya mwoyo, uye kuora mwoyo.
- Kuderera kwehuremu hwemapfupa ( osteoporosis ), izvo zvinogona kukonzera kuti mapfupa aputsike nyore nyore.
- Kuzvimba kwepancreas ( pancreatitis ), kunyanya kana paine dambudziko remetabolism.
- Musoro usingaperi unokonzerwa nekumanikidzwa kwakanyanya mudehenya.
- Zvirwere zvekufamba zvakaita sekubvunda uye kusimba kwetsandanyama kusingadzoreki.
- Kushaya simba uye kunyange kufa zvinogona kuitika nekuda kwehutachiona, kushushikana, kana kudya zvisina kunaka.
Nzira yekuziva chirwere ichi? (Kuongororwa)
MSUD yekare inowanzoonekwa panguva yekuongororwa kwevana vacheche, uko kuri kuongororwa ropa.
Pamusoro pezvo, bvunzo dzinogona kuitwa panguva yekuzvitakura kuti uone kana mwana ane chirwere ichi. Izvi zvinogona kuitwa nekutora sampuli diki yeplacenta ( chorionic villus sampling ) kana kuyedza amniotic fluid yakakomberedza mwana ( amniocentesis ).
Vana vane mamwe marudzi eMSUD vanogona kusaratidza zviratidzo vachiri vadiki. Zviratidzo zvinogona kusaonekwa kusvika makore akati wandei gare gare. Panguva iyoyo, chiremba achasimbisa chirwere kuburikidza nekuongororwa kweropa uye kuongororwa kwemajini . Zvakare, kunhuhwirira kwakanaka kunobva mumuviri wemwana chiratidzo chikuru chechirwere.
Ndeipi mishonga yeMSUD?
Kunyangwe pasina mushonga weMSUD, inogona kutarisirwa zvakanaka uye hupenyu hwemazuva ese hunogona kuwanikwa. Kurapwa kune zvinangwa zvikuru zviviri:
1. Kudzora huwandu hwemaamino acid matatu aya mumuviri.
2. Kurapa nekukurumidza kana paine dambudziko re metabolic process.
1. Kudya
Ichi ndicho chikamu chakakosha pakurapa MSUD. Murwere anofanira kutevedzera kudya kwakasimba kwehupenyu hwake hwese. Izvi zvinoreva kuderedza kudya kune mapuroteni akawanda. Nekuti maamino acid matatu aya anowanikwa mumapuroteni.
| Zvikafu zvikuru zvinoderedza | |
|---|---|
| Zvigadzirwa zvenyama | Nyama yemombe, nyama yenguruve, huku, hove. |
| Zvigadzirwa zvemukaka | Mukaka, chizi, mazai. |
| Nyemba | Makoshe, nzungu, nyemba, nyemba, nyemba. |
Mwana achangoberekwa anopiwa rudzi rwakasiyana rwemukaka weupfu husina maamino acid matatu aya, asi hune zvimwe zvinovaka muviri zvese.
Zvakakosha kushanda nenyanzvi yezvekudya kuti mugadzire chirongwa chekudya chakachengeteka uye chine hutano chakakodzera murwere wega wega.
2. Kugara uchitarisa
Murwere ane MSUD anofanira kunge ari pasi pekutarisirwa nachiremba kweupenyu hwake hwese. Kuongororwa kweropa neweti kunoitwa nguva nenguva kuti vaone huwandu hweamino acid mumuviri. Kudya kunogadziriswa zvichienderana nemhedzisiro.
3. Kurapwa nekukurumidza kwematambudziko ekugaya chikafu
Kana ukaona zviratidzo zvedambudziko rekugaya chikafu, unofanira kuendeswa kuchipatara nekukasika. Kuchipatara, timu yezvekurapa inogona kupa mishonga inotevera:
- Mazinga eamino acid anodzorwa nekupa glucose ne insulin mutsinga (IV).
- Zvinovaka muviri zvinodiwa, asi zvisingakuvadzi, zvinopihwa mumuviri kuburikidza nechubhu ye nasogastric kana IV.
- Hemodialysis inoitwa kubvisa zvinhu zvine chepfu muropa.
- Matambudziko akadai sekuzvimba kweuropi anoongororwa nguva nenguva uye kurapwa kwakakodzera kunopihwa.
Chirwere ichi chinogona kurapwa nekuisirwa chiropa here?
Ehe. Iyi ndiyo tariro yakanakisisa kune varwere veMSUD.MSUD yekare inogona kurapwa zvinobudirira nekuisirwa chiropa.
Chikonzero cheizvi ndechekuti enzyme inoputsa maamino acids ane matambudziko inogadzirwa zvakanyanya nechiropa. Saka kana chiropa chine hutano chikasimwa, chiropa ichocho chinoburitsa enzyme inodiwa. Mushure meizvozvo, murwere anogona kurarama hupenyu hwakajairika asina zvirambidzo kana zviratidzo zvekudya.
Zvisinei, kuisirwa chiropa kuvhiyiwa kukuru. Kune njodzi. Zvinodawo mishonga inodzvinyirira masoja emuviri kuti muviri usarambe chiropa chitsva. Zvisinei, nzira iyi yakaunza mhedzisiro iri nani kuvanhu vazhinji pane kurarama neMSUD.
Pane nzira yekudzivirira chirwere ichi here?
Nekuti MSUD chirwere chinokonzerwa nemajini, hachigone kudzivirirwa zvachose. Zvisinei, njodzi yekuti mwana agare nhaka chirwere ichi inogona kuderedzwa.
Kana mumwe munhu mumhuri menyu aine MSUD, zvakakosha kutaura nachiremba wako nezvazvo musati mava nemwana. Iwe nemumwe wako munogona kuongororwa majini kuti muone kana muri vana. Kana mese muri vana, munogona kutaura nenyanzvi yezvemajini nezvenjodzi yenyu yekupfuudza chirwere ichi kumwana wenyu uye matanho amungatora kudzivirira.
Mharidzo Yekuenda Nayo Kumba
- Kana weti yemwana wako, ziya, kana wakisi zvichinhuwa semapuropa emumaple, usazviregeredza. Izvi zvinogona kuva chiratidzo chikuru cheMSUD.
- MSUD chirwere chinogara kwenguva refu chinoda kudya kwakasimba kusina mapuroteni uye kugara uchitarisirwa nachiremba.
- Kana mwana wako akaratidza zviratidzo zvekugwinha, kurara zvakanyanya, kana kurutsa, zvinogona kunge zviri "dambudziko remuviri." Iyi idambudziko. Enda nemwana wako kuchipatara (ETU) nekukurumidza.
- Kuongororwa kwechirwere nekukurumidza uye kurapwa nekukurumidza kunogona kudzivirira matambudziko akakomba uye kupa mwana mukana wekurarama hupenyu hwakanaka.
- Chirwere ichi chinogona kurapwa zvinobudirira nekuisirwa chiropa, izvo zvamunogona kukurukura nachiremba wenyu.
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