Mwana wako ane zviratidzo izvi here? Ngatidzidzei nezveZellweger Syndrome

Patinotarisa mwana achangoberekwa, mwoyo yedu inozadzwa nemufaro, handiti? Asi dzimwe nguva, kunyange zvazvo zvisingawanzoitiki, vamwe vacheche vanouya munyika ino vaine mamwe matambudziko ehutano pakuzvarwa. Zellweger Syndrome chirwere chisingawanzoitiki, chakakomba chemajini chinokanganisa vacheche vacheche. Unganetseka paunonzwa zita iri, asi ngatitaurei nezvazvo zviri nyore uye tinzwisise.

Chii chinonzi Zellweger Syndrome?

Zvichitaurwa zviri nyore, Zellweger Syndrome chirwere chemajini chinoitika muvana vacheche. Vanachiremba vanoti chirwere ichi ndicho chakanyanya kuipa pazvirwere zvina zviri muZellweger spectrum. Chinokanganisa sisitimu yetsinga uye metabolism (maitiro ekushandura chikafu kuita simba) mushure mekuzvarwa. Chinogona kukuvadza uropi, chiropa, neitsvo kunyanya. Chinogonawo kukanganisa mabasa akawanda akakosha mumuviri. Rimwe zita reizvi i cerebrohepatorenal syndrome. Kutaura zvazviri, chirwere ichi chinowanzova chakakomba, zvichireva kuti chinogona kutyisidzira hupenyu.

Chii chinonzi Zellweger Spectrum Disorders (ZSDs)?

Izvi zvinonziwo `peroxisomal biogenesis disorders`. Zvirwere izvi zvinokanganisa zvikamu zvemasero edu zvinonzi `peroxisomes`. `peroxisomes` idzi dzinokosha pamabasa akawanda mumuviri wedu.

Zvimwe zvirwere zviri muZellweger spectrum ndeizvi:

• Heimler syndrome: Izvi zvinokonzera kurasikirwa nekunzwa uye matambudziko emazino muvana vane mwedzi mishoma kana kuti vadiki kwazvo.
• Chirwere cheInfantile Refsum: Izvi zvinokonzera kuti tsandanyama dzemwana dzisashande zvakanaka uye zvinononotsa kukura, zvakaita sekutanga kufamba.
• Adrenoleukodystrophy yevana vacheche: Izvi zvinokonzera kurasikirwa nekunzwa nekuona. Zvinokonzerawo matambudziko muuropi hwemwana, musana, uye tsandanyama.

Ndiani anowana chirwere cheZellweger?

Izvi zvinokonzerwa nekuchinja kwakasiyana-siyana mumajini. Kutaura chokwadi, ichi chirwere che autosomal recessive disorder. Izvi zvinoreva kuti mwana anowana chirwere ichi chete kana akagara nhaka jini rakakanganisika kubva kuna amai nababa .

Funga nezvazvo nenzira iyi, kana vabereki vese vari "vatakuri" vejini iri risina kunaka (zvichireva kuti havana chirwere, asi vane jini racho), vana vavo vacha:

• Pane mukana we50% wekuti vachave vatakuri.
• Pane mukana we25% wekuzvarwa uine chirwere ichi.
• Pane mukana we25% wekuzvarwa uine hutano uye usina jini.

Zellweger syndrome yakajairika zvakadii?

Izvi hazviwanzoitiki.Chirwere. Pamwe chete nedzimwe zvirwere zveZellweger spectrum, zvirwere izvi zvinoitika mumwana mumwe chete pavana 50,000 kusvika mumwe chete pavana 75,000 vachangoberekwa. Saka hauwanzozvinzwa.

Chii chinokonzera Zellweger syndrome?

Izvi zvinokonzerwa nekuchinja kwemajini gumi nemaviri anonzi `PEX` gene. Chikonzero chikuru chechirwere ichi kuchinja kwemajini e`PEX1`. Majini aya anodzora `Peroxisomes`, ayo akakosha pakushanda zvakanaka kwemasero edu.

Maperoxisome akafanana nemafekitori madiki ari mukati memasero. Anoputsa chepfu nemafuta anokuvadza mumuviri. Anoitawo basa guru mukukura kwezvikamu zvinotevera zvemuviri wedu:

* Mapfupa

* Uropi

* Maziso

* Mwoyo

* Itsvo

* Chiropa

* Tsinga

Saka fungidzira, kana 'peroxisomes' idzi dzisingashande nemazvo, zvinokanganisa nhengo dzese dzemuviri nehurongwa hwese hwemuviri.

Ndezvipi zviratidzo zveZellweger syndrome?

Zviratidzo izvi zvinowanzoonekwa mwana achangoberekwa. Zvikurukuru, vanachiremba vanoona zvimwe zvinhu zvakananga pachiso chemwana . Izvi ndeizvi:

• Zambuko remhino rakafara.
• Nzvimbo yemafold eganda (Epicanthal folds) pamakona emukati memaziso.
• Kubata kumeso.
• Nzvimbo yepamusoro yehuma.
• Nzeve hadzikure zvakanaka.
• Kureba pakati pemaziso (maziso anoita seari kure).

Kuwedzera kune izvi zviso, zvimwe zviratidzo zvinogona kusanganisira:

• Dambudziko pakuyamwisa: Mwana haakwanise kuyamwisa zvakanaka.
• Chiropa chakakura uye/kana chiropa chakakura: Izvi zvinogona kuonekwa kana chiremba achiongorora dumbu.
• Kubuda ropa mudumbu: Ropa rinogona kunge riripo pamwe nekurutsa kana tsvina.
• Kusanzwa zvakanaka uye kusaona zvakanaka: Mwana anogona kusaita zvakanaka kana akanzwa ruzha kana kuti ari panze.
• Jaundice: Kutsvuka kwemaziso neganda nekuda kwekusashanda zvakanaka kwechiropa.
• Kubatwa nepfari: Zvirwere zvakaita sepfari zvinogona kuitika.
• Kukura kwetsandanyama kushoma uye kuoma kwekufamba: Makumbo emwana anogona kuita seasina kukura zvakanaka uye asiri kufamba zvakanaka.

Chirwere cheZellweger chinowanikwa sei?

Kazhinji, mwana paanongoberekwa, chiremba kana nesi vanofungira izvi pavanoona zvinhu chaizvo pachiso chemwana. Vanobva vaita bvunzo dzinotevera kuti vasimbise chirwere ichi:

• Kuongororwa kweropa neweti:Kana paine zvinhu zvakawanda muropa kana weti, kunyanya mafuta, zvinogona kuva chiratidzo cheZellweger syndrome. Nekuti peroxisomes haisi kushanda nemazvo, zvinhu izvi hazvisi kupatsanurwa nemazvo nemuviri.
• Kuskena: Kuongororwa kwe `Ultrasound` kunoitwa kuti vaone saizi yenhengo dzemukati dzakadai sechiropa neitsvo uye mashandiro adzo. Kuskena kweuropi kwe `MRI` (Magnetic Resonance Imaging) kwakakoshawo mukuongorora chirwere.
• Kuongororwa kwemajini: Sampuro yeropa inogona kutorwa kuti ione kana paine shanduko mumajini ePEX. Izvi ndizvo zvinosimbisa kuongororwa kwechirwere .

Ko Zellweger syndrome inogona kuonekwa here mwana asati aberekwa?

Ehe, mune dzimwe nguva zvinokwanisika. Kana vabereki vese vachizivikanwa kuti vanotakura jini re'PEX' risina kunaka, mwana ari panjodzi yekuva nechirwere ichi. Kana zvakadaro, vanachiremba vanogona kutarisa chirwere ichi nekuita bvunzo dzeropa kana scans mwana achiri kukura mudumbu.

Ndezvipi zvinetso zveZellweger syndrome?

Vacheche vane chirwere ichi vangasakwanisa kunzwa, kuona, kana kudya. Kana tsandanyama dzavo dzisina kukura zvakanaka, vangasatombokwanisa kufamba. Kazhinji, vana ava vanowana matambudziko akakomba akadai sekutadza kufema zvakanaka, kutadza kushanda kwechiropa, kana kubuda ropa mudumbu .

Chirwere cheZellweger chinorapwa sei?

Zvinosuwisa kuti hapana mushonga kana mushonga weZellweger syndrome . Mamwe marapirwo anogona kubatsira kuderedza zviratidzo uye kuita kuti mwana anzwe akasununguka zvishoma. Zvisinei, hapana nzira yekurapa chikonzero chechirwere ichi.

Semuenzaniso, kana mwana achinetseka nekudya, chubhu yekudyisa inogona kushandiswa. Zvisinei, izvi hazvizombobvumiri mwana kudya zvakanaka ega. Chinangwa chikuru chekurapa ndechekuita kuti mwana asarwadziwe uye asanyanya kusuruvara sezvinobvira.

Remangwana revacheche vane chirwere cheZellweger rakaita sei?

Zvinosuwisa kunzwa, asi vacheche vane chirwere cheZellweger vanowanzo rarama mwedzi isingasviki gumi nemiviri . Izvi zvinoreva kuti havawanzo rarama kusvika pagore rimwe chete. Zvisinei, vana vane zvimwe zvirwere paZellweger spectrum, zvakaita sechirwere cheRefsum kana chirwere cheHeimler, vane tarisiro yekurarama iri nani. Vanogona kutorarama kusvika vakura.

Chirwere cheZellweger chinogona kudzivirirwa here?

Zvinosuwisa kuti hapana nzira yekudzivirira izvi nekuti chirwere chemajini. Zvisinei, kana mumwe munhu mumhuri yako akambova neZellweger syndrome kana zvimwe zvirwere zvakasiyana-siyana, mazano ezvemajini anogona kubatsira.Unogona kufunga nezvekuiwana. Nyanzvi yezvemajini inogona kuongorora njodzi yako yekupa chirwere ichi kuvana vako kana vazukuru vako.

Ko kana ndikave nekuchinja kwemajini angu kwakabatana neZellweger syndrome?

Kana ukaona kuti uri mutakuri wemajini ane chekuita nechirwere ichi, kupiwa mazano emajini kwakakosha zvikuru. Kuburikidza neizvi, unogona kuongorora njodzi dzaunosangana nadzo pakuva nevana.

Uyewo, kana uine mwana ane chirwere cheZellweger, timu yevanachiremba vevana vacheche ( vanachiremba vanoongorora vacheche vachangoberekwa) ichakubatsira kusarudza chirongwa chakanakira mwana wako. Usave wega panguva ino, tsvaga rubatsiro kubva kuna vanachiremba nemhuri yako.

Pakupedzisira, zvinhu zvekurangarira

Zellweger Syndrome (ZS) chirwere chisingawanzoitiki uye chakakomba chemajini chinokanganisa vacheche vachangoberekwa. Chinogona kukuvadza nhengo dzinokosha dzakadai sechiropa, itsvo, neuropi. Vana vane chirwere ichi havawanzo rarama makore anopfuura gore.

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Kunyangwe pasina mushonga chaiwo weizvi, kune mishonga yekudzora zviratidzo uye kuita kuti mwana anzwe akasununguka sezvinobvira. Kana paine munhu mumhuri yako ane nhoroondo yechirwere ichi, tsvaga mazano ezvemajini. Zvakare, vabereki vane chirwere ichi vanoda rutsigiro rwakanyanya kubva kuna vanachiremba nemhuri.

Ndinovimba ruzivo urwu ruchakubatsira. Zvakakosha kuti munhu wese azive nezvezvinhu zvakadaro.

Zellweger Syndrome, chirwere chemajini, vana vachangoberekwa, peroxisomes, majini ePEX, chirwere chisingawanzoitiki, hutano hwevana, zvirwere zvemajini