Mwana wenyu mudiki ane zviratidzo izvi zvisinganzwisisike here? Ngatikurukurei nezveHurler Syndrome.

Unofanira kugara uchinetseka nezvekukura kwemwana wako uye maitiro ake, handiti? Dzimwe nguva, zvakajairika kunzwa kutya zvishoma kana zvinhu zvikasafamba sezvaitarisirwa. Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha kwazvo chaunofanira kuziva. Chinonzi Hurler Syndrome. Ungave usati wambonzwa nezvezita iri. Asi zvakakosha kuziva nezvaro, kunyanya kana mumwe munhu mumhuri mako akambova nechirwere ichi.

Chii chinonzi Hurler Syndrome? Ngatinzwisise zviri nyore!

Zvakanaka, ngatitangei tatarisa kuti Hurler Syndrome chii. Zvichitaurwa zviri nyore, chirwere chemajini chisingawanzoitiki. Chinoonekwa sechirwere chakanyanya kuipa cheboka rezvirwere zvinonzi Mucopolysaccharidosis type 1 (MPS 1). Mamwe mashuga akaomarara mumiviri yedu, kunyanya glycosaminoglycans (yaimbonzi mucopolysaccharides), anoda enzyme chaiyo kuti aibvise mumuviri. Munhu ane Hurler Syndrome haagadzire enzyme iyi, kana kuti haabudisi enzyme iyi zvishoma.

Fungidzira, chii chinoitika kana muunganidzi wemarara mumba medu usingashande zvakanaka? Marara anoungana, handiti? Ndizvo zvazviri. Kana enzyme iyi isipo, shuga idzodzo dzinoungana muzvikamu zvemuviri zvinonzi `(lysosomes)` mukati memasero. Aya `(lysosomes)` akafanana ne'nzvimbo diki dzekuchenesa' mumasero edu. Zvadaro, shuga idzodzo dzinoungana muaya, uye dzinozara semurwi wemarara. Izvi zvinonziwo `(lysosome storage condition)`. Kana izvi zvikaitika, masero haagone kushanda zvakanaka, uye dzimwe nguva masero anofa. Ndokusaka zviratidzo zveHurler syndrome zvichionekwa.

Dambudziko iri rinogona kukonzera kusashanda zvakanaka kwemapfupa nemapfundo, chimiro chechiso chakasiyana, matambudziko ekukura kwepfungwa, chirwere chemwoyo, matambudziko emapapu, uye kukura kwechiropa nespleen . Kana izvi zvikaitika kumwana, zviratidzo zvinogona kutyisidzira hupenyu hwake, uye zvinosuwisa kuti, makore ekurarama anogona kupfupikiswa.

Chii chimwe chiri muchikamu ichi chinonzi MPS I?

Tambotaura kare kuti Hurler syndrome ndiyo yakanyanya kuipa yeboka re `(MPS I)`. Kune mamwe marudzi maviri muboka iri re `(MPS I)`.

• Hurler syndrome - Iri ndiro rudzi rwakanyanya kuoma rwatiri kutaura nezvarwo.
• Hurler-Scheie syndrome - Iyi imhando yechirwere chiri pakati nepakati.
• Scheie syndrome - Iyi ndiyo mhando isina kunyanya kuoma yeboka iri.

Mhando nhatu idzi dzakafanana nemazinga akasiyana echirwere chimwe chete. Dzakapfava uye dzakanyanya kuoma. Vanachiremba vanowanzo taura nezvemhando mbiri dzisina kunyanya kuoma se "attenuated MPS I".

Musiyano mukuru pakati pemhando idzi inguva yekutanga kwezviratidzo, kumhanya kwechirwere, uye kukanganisa njere. MuHurler syndrome, zviratidzo zvinowanzoonekwa nguva pfupi mushure mekuzvarwa.Zvinokanganisawo kukura kwepfungwa. Mune mamwe marudzi e `(attenuated MPS I)`, zviratidzo zvinogona kusaonekwa kusvika pazera remakore matanhatu kana manomwe. Zvakare, kukanganisa njere hakuna kuipa sezvakaita Hurler syndrome. Saka, vanhu vane `(attenuated MPS I)` vanogona kurarama hupenyu hwakajairika.

Ndiani anogona kuwana Hurler Syndrome?

Uku kuchinja kwemajini kunogona kukanganisa chero mwana. Zvisinei, kana mumwe munhu mumhuri yako akambova neMucopolysaccharidosis type I, mwana wako ari panjodzi yakakura yekubatwa nechirwere ichi. Izvi hazvisi izvo zvakaitwa naamai panguva yekuzvitakura.

Mamiriro ezvinhu aya akajairika zvakadii?

Hurler Syndrome chirwere chisingawanzoitiki. Chinofungidzirwa kuti chinobata mwana mumwe chete pavana vacheche 100,000. Varume nevakadzi vane mukana wakaenzana wekuibata. Chimiro cheMPS I chisina kunyanya kuoma, chambotaurwa, chinobata mwana mumwe chete pavana vacheche 500,000.

Hurler Syndrome inokanganisa sei muviri wemwana?

Chirwere ichi chinokanganisa zvinhu zvakawanda zviri mumuviri wemwana ari kukura. Zvimwe zvezviratidzo zvemuviri zvinobuda ndezvechirwere ichi. Semuenzaniso:

• Musoro wacho wakakura kupfuura zvakajairika.
• Maziso ane makore kana chikamu chichena cheziso (cornea) chakakomberedza mhete nhema yeziso chikaita sechine makore.
• Zvimiro zvechiso: Kureba pakati pemaziso, huma yakakura, mhino yakatetepa, miromo yakakura, nezvimwewo.
• Zvinokanganisawo kukura kwemapfupa, izvo zvinogona kukonzera kudzikira kwehurefu hwemwana (kushaya mweya).

Kuwedzera kune zviratidzo izvi zvekunze, zvinokanganisawo nhengo dzemukati memuviri. Kunyanya mwoyo nemapapu. Nekuda kweizvi, mwana anogona kugara achibatwa nezvirwere zvenzeve, hutachiona hwesinus, uye hutachiona hwemapapu. Dzimwe nguva, michina inogona kudiwa kuti ibatsire kufema, uye kuvhiyiwa kunogona kudiwa kugadzirisa kukuvara kwenhengo.

Zviratidzo zveHurler syndrome zvinogona kuisa upenyu panjodzi. Zvisinei, kana chirwere ichi chikaonekwa uye chikarapwa nekukurumidza, nguva yekurarama kwemwana inogona kuwedzerwa.

Kana uchironga kubata pamuviri mune ramangwana, zvakanaka kuti unzwisise njodzi dzezvirwere izvi zvakagarwa nhaka, utaure nachiremba wako, uye udzidze nezvekuongororwa kwemajini.

Ndezvipi zviratidzo zveHurler Syndrome?

Zviratidzo zvechirwere ichi zvinogona kusiyana kubva pamunhu kuenda kune mumwe, uye zvinogona kusiyana pakuoma kwacho. Zviratidzo zvinowanzotanga pahudiki. Chimwe chezvinhu zvikuru zvinosiyanisa izvi nezvimwe mhando dzeMPS I ndechekuti zvinoratidza kunonoka mukukura kwepfungwa pakutanga kwehupenyu uye zvishoma nezvishoma zvinoderera mukudzidza nekurangarira nekufamba kwenguva.Mumhando dzisina kusimba dzeMPS I, njere hadziwanzo kukanganiswa zvakanyanya.

Heano zvimwe zviratidzo zveHurler syndrome:

• Matambudziko evharuvhu yemoyo, kusasimba kwetsandanyama yemoyo (cardiomyopathy)
• Kurasikirwa nekunzwa kana kurasikirwa nekunzwa zvachose
• Kuunganidzwa kwemvura yemuuropi (cerebrospinal fluid) yakatenderedza uropi (hydrocephalus)
• Kukura kwenhengo dzemuviri nenyama dzinobatana, dzakadai sechiropa, chirebvu, matoni, netsandanyama
• Matambudziko ekuona, semuenzaniso, kuwedzera kwekumanikidzwa kwemaziso (glaucoma)
• Matambudziko emajoini (kuomarara kwemajoini, carpal tunnel syndrome, zvirwere zvemajoini)
• Kutapukirwa nezvirwere zvekufema kakawanda, kufema zvisina kugadzikana, matambudziko ekufema
• Hernias (inobuda mudumbu kana muhudyu)

Zvinhu zvinoonekwa kunze

Mugore rekutanga remwana wako, unogona kutanga kuona zviratidzo zvekunze zvinotevera:

• Hurefu hupfupi
• Dysostosis ( kusarongeka zvakanaka kwemapfupa )
• Kukombama kwemusana wepamusoro (semusana une hunchback) (thoracic-lumbar kyphosis)
• Kukura kwebvudzi zvakanyanya mumuviri, kunyanya kumeso nekumusana

Chikonzero cheizvi chii?

Chikonzero chikuru cheHurler syndrome kuchinja kwejini kunonzi `IDUA`. Iri jini re`IDUA` ndiro rinopa mirairo yekugadzira `(lysosomal enzymes)` yatakambotaura nezvayo. Yeuka, iyi enzyme inopwanya marara (shuga idzodzo) mukati memasero. Zvadaro, kana jini iri re`IDUA` rikasashanda nemazvo, iyo enzyme haigadzirwe nehuwandu hwakakwana. Nekuda kweizvozvo, marara anoungana mukati memasero, uye masero anofa kana kuti haashande nemazvo. Ndokusaka zviratidzo zveHurler syndrome zvichionekwa.

Izvi zvinouya sei kubva kuchizvarwa kuenda kune chimwe chizvarwa?

Ichi chirwere chinogara nhaka, zvichireva kuti chinopfuudzwa kubva kumubereki kuenda kumwana. Chinogarwa nhaka nenzira ye autosomal recessive. Zvichitaurwa zviri nyore, kuti mwana ave nechirwere ichi, mwana anofanira kugara nhaka gene re 'IDUA' risina kunaka kubva kuna amai nababa. Kana mubereki mumwe chete akagara nhaka gene risina kunaka, mwana haazove nechirwere ichi. Zvisinei, mwana iyeye anogona kunge ari 'mutakuri' wechirwere. Izvi zvinoreva kuti kunyangwe vasina zviratidzo, vanogona kupa gene iri kuvana vavo.

Hurler Syndrome inoonekwa sei?

Nerombo rakanaka, kune bvunzo dzinogona kuona chirwere ichi mwana asati aberekwa. Idzi dzinonzi bvunzo dzekuongorora mwana asati aberekwa.

• Amniocentesis: Izvi zvinosanganisira kutora sampuli diki yemvura yeamniotic yakakomberedza mwana uye kuiedza.
• Kuongororwa kweChorionic villus: Izvi zvinosanganisira kutora chidimbu chidiki chenyama kubva muplacenta wochiyedza.

Miedzo iyi yese inogona kutarisa kana paine kusarongeka kwemajini muDNA yemwana.

Mushure mekunge mwana azvarwa, chiremba achaongorora mwana, otarisa zviratidzo, uye oita ongororo yemaitiro ema enzymes kuti asimbise chirwere ichi. Vachabvunzawo kana paine munhu mumhuri akambova nechirwere ichi (mucopolysaccharidosis), nekuti chinogona kugarwa nhaka.

Dzimwe nguva, mimwe miedzo inogona kuitwa kusimbisa chirwere ichi. Semuenzaniso:

• X-ray yekutarisa mapfupa emwana
• Echocardiogram (kuongorora kwemoyo)
• Kuongororwa kweropa neweti

Kurapwa kweizvi ndekupi?

Kurapa Hurler syndrome kunonyanya kukoshesa kudzivirira uye kugadzirisa zviratidzo.

Mishonga mikuru miviri iripo parizvino ndeiyi:

1. Kurapa Nekutsiva MaEnzyme (ERT): Izvi zvinosanganisira kupa muviri enzyme inoshaikwa. Enzyme iyi inonzi alpha L-iduronidase (zita rekuti aldurazyme). Izvi zvinogona kubatsira kudzivirira zviratidzo kuti zvisawedzere kuipa uye kugadzirisa mamwe matambudziko. Kurapa uku kunotanga kana chirwere chaonekwa. Uku kurapwa kwehupenyu hwese kunopihwa sejekiseni . Chiremba ndiye achasarudza kuti jekiseni rinofanira kupiwa kangani, zvichienderana nekuoma kwechirwere.

2. Kuisirwa Masero Eropa (HSCT): Uku kungoisirwa mamorekuru emapfupa. Kurapa uku kunowanzoitwa kuvana vari pasi pemakore maviri (dzimwe nguva vakwegura, vachitarisirwa nachiremba). Muzviitiko zvakakomba, zvinogona kubatsira kuwedzera hupenyu, kudzivirira chirwere kuti chisapararire, kuchengetedza hunyanzvi hwepfungwa, uye kuderedza zviratidzo zvemuviri. Izvi zvinosanganisira kuisa maseru emapfupa anogadzira maenzayimu kubva mumorekuru yemapfupa emunhu ane hutano mumwana.

Kuwedzera kune aya marapirwo makuru, kune mamwe marapirwo ekudzora zviratidzo:

• Kuvhiyiwa: Kuvhiyiwa kunogona kuitwa kugadzirisa kana kutsiva mavharuvhu emwoyo, kubvisa madhakatarakita uye kuisa lenzi yekugadzira (kutsiva cornea), kugadzirisa kusakwana kwekukura kwemapfupa, uye kugadzirisa hernias.
• Kurapa kwakasiyana-siyana: Kurapa kwemuviri, kurapwa kwebasa, kurapwa kwekutaura, nezvimwewo.
• Kana uchinetseka kufema, shandisa mudziyo wakaita semuchina weCPAP.
• Kana usina kunzwa zvakanaka, shandisa zvinhu zvinobatsira kunzwa.
• Mishonga inoderedza marwadzo inokonzerwa nezviratidzo.

Pane matambudziko anokonzerwa nekurapwa here?

Mune zvimwe zviitiko, matambudziko anogona kuitika nekuda kwemushonga unonyaradza marwadzo unopiwa panguva yekuvhiyiwa, sezvo vana ava vachinetseka kufema uye majoini anogumburwa zvichiita kuti zviome kuisa mutsetse weIV.

Uyewo, kuti uwane rubatsiro rwakanyanya kubva mukurapa kweERT neHSCT, zvakakosha kutanga kurapwa nenguva. Kunonoka kurapwa, kunyanya kana zviratidzo zvine chekuita nekukura kwepfungwa zvatoonekwa, zvinogona kuderedza mhedzisiro. Saka, usati watanga kurapwa kwemwana wako, taura nachiremba wako nezvemigumisiro kana matambudziko angangoitika.

Pane nzira yekudzivirira chirwere ichi kuti chisaitike kumwana here?

Zvinosuwisa kuti chirwere cheHurler chirwere chinokonzerwa nemajini, saka hachigone kudzivirirwa. Zvisinei, kana uchironga kuva nevana mune ramangwana, zvakanaka kubvunza chiremba kuti akupe mazano ezvemajini uye, kana zvichidikanwa, kuongororwa kwemajini kuti unzwisise njodzi yekuti mwana wako ave nechirwere ichi.

Chii chinoitika kana uine mwana ane Hurler Syndrome?

Izvi zvinosuwisa kunzwa. Kufanotaura kwevana vane chirwere cheHurler hakuna kunaka zvakanyanya. Nekuda kwezviratidzo zvakakomba zvechirwere ichi, kunyanya migumisiro pamwoyo nemapapu, avhareji yehupenyu hwemwana inosvika makore gumi. Zvisinei, kana chirwere ichi chikaonekwa nekukurumidza uye kurapwa kwakadai se `HSCT` (bone marrow transplant) uye `ERT` (enzyme therapy) kukatangwa, hupenyu hunogona kuwedzerwa zvishoma.

Vana vane chirwere cheMPS I chepakati kana chisina kusimba vanogona kurarama kusvika pamakore ekuma20 ne30 kana vakarapwa. Kufa nekukurumidza kunowanzokonzerwa nekutadza kufema zvakanaka.

Asi yeuka, kana chirwere chisina kunyanya kuipa uye kurapwa kukatanga nekukurumidza, unogona kutokwanisa kurarama hupenyu hwakajairika.

Pane mushonga wakakwana weizvi here?

Kusvika pari zvino, hapana mushonga weHurler syndrome. Zvisinei, mishonga iripo inogona kubatsira zvikuru kuwedzera hupenyu uye kuderedza zviratidzo zvinotyisidzira hupenyu.

Unofanira kuenda nemwana wako kuna chiremba riini?

Kana muchifunga kuti mwana wenyu ane zviratidzo zveHurler syndrome, kunyanya kana asiri kusvika padanho rekukura sezvaitarisirwa pazera rake, kana kuti kana achiita seari kunetseka nekuona kana kunzwa, kurumidzai kuona chiremba wemwana wenyu.

Njodzi! Kana mwana wako achinetseka kufema, achinzwa sekuti kurova kwemoyo wake hakuna kurongeka, kana kuti ari kurasikirwa nepfungwa nguva nenguva (izvi zvinogona kuva zviratidzo zvemwoyo), muendese kuchipatara chiri pedyo nekukasika, kana kufonera 1990.

Mibvunzo ipi yaunofanira kubvunza chiremba?

Kana ukaona kuti mwana wako ane chirwere ichi, zvakajairika kuva nemibvunzo yakawanda. Bvunza chiremba wako nezvezvinhu zvakaita se:

• Ndeipi nzira yakanakisisa yekurapa chirwere chemwana wangu kudzivirira zviratidzo?
• Pane mimwe migumisiro yakaipa kubva mukurapa kwaunopa mazano here?
• Mwana wangu anofanira kubaiwa majekiseni ekurapa anotsiva ma enzyme kangani?

Musiyano uripo pakati peHurler Syndrome neHunter Syndrome ndeupi?

Zvese izvi "mamiriro ekuchengetera lysosomal." Kureva, zvirwere umo marara anoungana mukati memasero. Zvisinei, pane misiyano midiki pakati pezviviri izvi:

• Hurler Syndrome: Iyi ndiyo mhando yakanyanya kuipa yeMucopolysaccharidosis type I (MPS I). Muizvi, enzyme yemuviri inonzi alpha-L-iduronidase inodzikira.
• Hunter Syndrome: Ichi chirwere chisina kunyanya kuoma kupfuura Hurler Syndrome. Ndecheboka reMucopolysaccharidosis type II (MPS II). Muizvi, enzyme iri mumuviri inonzi iduronate-2-sulfatase (I2S) inodzikira.

Pakupedzisira, zvinhu zvekurangarira

Kuongororwa kweHurler Syndrome kunogona kuva chinhu chakaoma kumhuri, kunyanya nemibvunzo yakawanda inomuka pamusoro pehupenyu hwemwana. Munguva ino yakaoma, zvakakosha kushanda pamwe chete navanachiremba vemwana wako uye kuva neruzivo rwakakwana nezvechirwere uye nzira dzekurapa. Uyewo, yeuka kuti hausi wega. Tsvaga rutsigiro kubva kumhuri, shamwari, nenyanzvi dzehutano dzinogona kukupa nyaradzo. Kuongororwa nekukurumidza uye kurapwa kwakakodzera kunogona kubatsira mwana wako kurarama hupenyu hwakanakisisa.

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