Mwana wenyu ane zviratidzo izvi here? Ngatidzidzei nezveMorquio Syndrome!

Wakaona here zvinhu zvisina kumira zvakanaka mukukura kwemwana wako kana kuchinja kwemapfupa ake munguva pfupi yapfuura? Dzimwe nguva unganetseka nekuti haugone kuziva kuti izvi chii. Nhasi tichataura nezvechimwe chirwere chisingawanzoitiki asi chakakosha zvikuru. Chirwere ichi chinonzi Morquio Syndrome.

Chii chinonzi Morquio Syndrome? Ngatizvinzwisise zviri nyore!

Zvakanaka, ngationei kuti Morquio Syndrome chii. Inonziwo Mucopolysaccharidosis IV (MPS IV). Zvichitaurwa zviri nyore, chirwere chemajini chinokanganisa kukura kwemapfupa edu, uye zviratidzo zvinowedzera zvishoma nezvishoma nekufamba kwenguva. "Majini" zvinoreva kuti chinhu chatinogara nhaka kubva kuvabereki vedu.

Chikonzero chikuru cheizvi ndechekuti miviri yedu haigone kuputsa mamorekuru makuru eshuga anonzi glycosaminoglycans (GAGs) (aimbozivikanwa semucopolysaccharides). Izvi zvinoitika nekuti muviri hauna maenzyme akakwana ekuita basa racho. Funga nezvemaenzyme aya sevashandi vadiki mumiviri yedu vanoita basa rese. Kana asipo, zvimwe zvinhu hazvishande nemazvo.

Ndeapi marudzi makuru eMorquio Syndrome?

Kune mhando mbiri huru dzechirwere cheMorquio. Kunyange zvazvo zviratidzo zvemhando mbiri idzi zvakafanana zvakanyanya, majini anokonzera chirwere ichi akasiyana.

• Rudzi A: Izvi zvinokonzerwa nekushaikwa kweenzyme N-acetyl-galactosamine-6-sulfatase (GALNS).
• Rudzi B: Izvi zvinokonzerwa nekushaikwa kwe enzyme beta-galactosidase (GLB1).

Sezvo kurapwa kwemhando dzese dziri mbiri kuchigona kusiyana, zvakakosha zvikuru kuziva kuti ndeipi mhando chaiyo yaunayo.

Dambudziko iri rakajairika zvakadii?

Morquio Syndrome chirwere chisingawanzoitiki. Munyika yakaita seUnited States, nhamba dzinoratidza kuti inobata munhu mumwe chete pavanhu 200,000 kusvika 300,000. Pavanhu ava, 95% vanonzi vane chirwere cherudzi rweA cheMorquio Syndrome.

Ndezvipi zviratidzo zveMorquio Syndrome?

Zviratidzo zveMorquio syndrome zvinowanzotanga kuoneka panguva yehucheche kusvika pahudiki. Zviratidzo izvi zvinowanzowedzera zvishoma nezvishoma nekufamba kwenguva. Zviratidzo izvi zvinonyanya kukanganisa mapfupa. Ngationei kuti chii:

• Zvimiro zvechiso zvinova zvisina kunaka.
• Majoini anochinjika.
• Kusarongeka kwekukura kwemusana, chipfuva, mbabvu, chiuno, uye maoko. Pamwe wakaona vamwe vana vane musana wakakombama. Zvinhu zvakadaro.
• Mabvi akagonya (genu valgum). Zvinoita sekuti mabvi akakotama mukati.
• Mabvi emumuromo wechibereko haana kumira zvakanaka. Izvi zvinonzi odontoid process anomaly.
• Kureba kupfupi. Kureva kuti, kusava nehurefu hwakakodzera zera rako.
• Scoliosis kana kyphosis.

Kuwedzera kumafupa, chirwere ichi chinogonawo kukanganisa dzimwe nhengo dzemuviri. Zvimwe zvezviratidzo zvinosanganisira:

• Kuona kusina kujeka uye kusaona zvakanaka. Dzimwe nguva chikamu chichena cheziso, senge iris, chinogona kuita sechisina kujeka.
• Matambudziko emazino anokonzerwa nekutetepa kwe enamel yemazino.
• Chiropa chakakura (hepatomegaly).
• Kurasikirwa nekunzwa uye hutachiona hwenzeve hunogara huripo.
• Kuonekwa kwe hernias.
• Marwadzo munzvimbo dzine kusarongeka kwekukura kwemapfupa.
• Kushaya simba uye kufema panguva yekurara.
• Zvirwere zvekufema zvemudumbu zvinowanzo itika.

Chinhu chakakosha kurangarira ndechekuti Morquio Syndrome haikanganisi njere dzemwana.

Zvisinei, zvimwe zviratidzo zvakakomba zvechirwere ichi zvinogona kuisa hupenyu panjodzi. Izvi zvinosanganisira:

• Kuvharika kwenzira yekufema.
• Kudzvanya musana kunogona kukonzera matambudziko akadai sekuoma mitezo.
• Kusarongeka kwemavharuvhu emwoyo.

Chii chinokonzera Morquio Syndrome?

Morquio Syndrome inokonzerwawo nechikonzero chemajini. Chirwere ichi chinoitika kana mwana akagara nhaka magene maviri (kureva, kubva kuna amai nababa) mujini reGALNS (rudzi A), ratakambokurukura, kana kuti gene reGLB1 (rudzi B).

Majini aya anogadzira maenzymes anoputsa mamorekuru eshuga anonzi glycosaminoglycans (GAGs) atakambotaura. Kana paine shanduko mumajini, maenzymes aya haagamuchire mirairo yaanoda kuti ashande nemazvo. Kureva kuti, mashandiro awo anodzikira zvakanyanya, kana kuti anonyangarika zvachose.

Chii chinoitika ipapo? Mamorekuru eshuga iwayo (GAGs) anotanga kuungana munzvimbo dziri mukati memasero anonzi lysosomes. MaLysosome akafanana nenzvimbo dziri mukati memasero uko zvinhu zvisingadiwe zvinoputswa uye zvinodzokororwazve. Ndokusaka Morquio Syndrome ichinziwo lysosomal storage disorder .

Kunyangwe kuunganidzwa uku kwemamorekuru eshuga kuchikanganisa nhengo dzakasiyana-siyana dzemuviri, kunonyanya kukanganisa mapfupa. Ndosaka zviratidzo zvichinyanya kuonekwa mumapfupa.

Chirwere ichi chinogona kukanganisa ani?

Morquio Syndrome chirwere chemajini chinogona kukanganisa chero munhu. Chinogarwa nhaka chete kana jini rakakanganiswa rikagara nhaka kubva kuvabereki vese (autosomal recessive inheritance).Izvi zvinoreva kuti kuti mwana ave nechirwere ichi, vabereki vese vanofanira kunge vari ivo vane jini iri. Zvisinei, kunyangwe vari ivo vane jini iri, vabereki havazoratidzi zviratidzo izvi.

Morquio Syndrome inoonekwa sei?

Chirwere ichi chinowanzoonekwa kana zviratidzo zvatanga kuoneka, izvo zvinoitika muhudiki. Chiremba wemwana wako anotanga aita ongororo yemuviri uye anogona kurayira kuti apinzwe X-ray kuti aone mapfupa. Pamusoro pezvo, chiremba anogona kurayira mimwe miedzo yakati wandei:

• Kuongororwa kweweti: Izvi zvinoongorora huwandu hwakakwira hweglycosaminoglycans muweti yemwana.
• Kuongororwa kweropa: Izvi zvinogona kuona jini rinokonzera zviratidzo uye kuona kuti enzyme inoenderana iri kushanda sei mumuviri.

Ndeipi mishonga yekurapa Morquio Syndrome?

Zvinosuwisa kuti hapana mushonga weMorquio Syndrome. Zvisinei, kune nzira dzakasiyana-siyana dzekurapa dzinogona kubatsira kudzora zviratidzo uye kuita kuti hupenyu hwemwana huve nyore. Dzimwe dzacho dzinosanganisira:

• Kutsiva cornea - kupinza keratoplasty.
• Kurapa Kutsiva MaEnzyme (ERT) yeMorquio syndrome type A. Izvi zvinosanganisira kupa enzyme isina kukwana kunze.
• Kurapa muviri: Izvi zvinobatsira kuvandudza kufamba kwemwana.
• Kuvhiyiwa: Kuvhiyiwa kunogona kuitwa kuti mapfupa akamanikidzwa asunungurwe, kugadzikana kwemapfupa emusana nemuzongoza mumutsipa, uye kubvisa matonsi nemaadenoids kuti nzira yekufema ivhurwe.
• Kushandisa wiricheya kana zvimwe zvishandiso zvinobatsira kufamba.
• Kushandisa zvinhu zvinobatsira kunzwa kana machubhu ekufema.

Chii chandingatarisira kana mwana wangu aine Morquio Syndrome?

Zviratidzo zveMorquio syndrome zvingasanyanya kuoma pakutanga. Zvisinei, unofanira kutarisira kuti zviratidzo zvichawedzera zvishoma nezvishoma sezvo mwana wako achikura. Asi usazvidya mwoyo, kurapwa kunogona kubatsira mwana wako kuti anzwe akasununguka uye kudzivirira migumisiro yakakomba, inoisa upenyu panjodzi.

Avhareji yehupenyu hwemunhu ane Morquio Syndrome ndeyei?

Mubvunzo uyu wakaoma kupindura. Nguva yekurarama kwemunhu ane Morquio Syndrome inosiyana zvichienderana nekuoma kwechirwere.Chiremba wemwana wako achakutsanangurira izvi zvichienderana nemamiriro emwana wako. Zviratidzo zvakaita sekuoma kufema uye kudzvanywa kwemusana ndizvo zvinhu zvikuru zvinogona kukonzera kufa nekukurumidza.

Vana vane zviratidzo zvakakomba vanogona kurarama kusvika pazera rekuyaruka. Avo vane zviratidzo zvishoma zvakanyanya vanogona kurarama kusvika pazera repakati, zvichida kusvika pamakore avo ekuma60.

Morquio Syndrome inogona kudzivirirwa here?

Morquio Syndrome chirwere chinokonzerwa nemajini, saka hapana nzira yekudzivirira. Zvisinei, kana iwe kana mumwe munhu mumhuri yako aine chirwere ichi chemajini, kana kuti kana uine zvinokunetsa nezvazvo usati wava nemwana, unogona kutaura nachiremba wako nezvemazano ezvemajini uye kuongororwa kwemajini. Izvi zvichakubatsira kunzwisisa njodzi yako yekuva nemwana ane chirwere chemajini.

Ndinofanira kuona chiremba rini?

Zviratidzo zvinokanganisa musana netsinga dzekufema ndizvo zvakanyanya kuipa. Saka, zvakakosha kungwarira zvinhu zvakadaro nekukurumidza. Kana mwana wako achinetseka kufema, kana kuti achiratidza zviratidzo zvekuoma mitezo, enda kuchipatara nekukasika.

Gara uchiteerera zviratidzo zvemwana wako, kunyanya mushure mekuvhiyiwa, uye tarisa zviratidzo zvehutachiona (semuenzaniso, kurwadziwa, kuzvimba, pus). Kana ukaona chimwe cheizvi, enda kuna chiremba wako nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Zvakanaka kubvunza chiremba wemwana wako mibvunzo yakaita seiyi:

• Mwana wangu anoda kurapwa kwemuviri here kuti akwanise kufamba zvakanaka?
• Mwana wangu achada kuvhiyiwa here kuti mapfupa ake agadziriswe zvisina kunaka here?
• Mwana wangu ane Morquio Syndrome yerudzii?
• Mwana wangu achafanira kushandisa wheelchair kuti afambe here?

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Zvinogona kuoma kuziva kuti mwana wako ane chirwere chemajini chinogona kupfupisa hupenyu hwake. Zvinonzwisisika. Unofanira kugara uchipa mwana wako rudo nerutsigiro rwakawanda. Nekuti chirwere ichi chinokanganisa mapfupa ake, zvinogona kumuomera kufamba nekutamba nevamwe vana vezera rake. Zvisinei, kushandisa zvishandiso zvinobatsira pakufamba kunogona kupa mwana wako rusununguko rwekutora chikamu muzviitiko zvehudiki.

Kana ukaona kuti mwana wako ari kupotsa matanho ekukura ane chekuita nekuona kana kunzwa, taurira chiremba wako nekukasika. Izvi zvinogona kubatsira kudzivirira mwana wako kuti asadzokere shure mubasa rechikoro. Kana mwana wako akaratidza zviratidzo zvekunetseka kufema kana kurasikirwa nepfungwa, enda kuchipatara nekukasika.

Kurarama nechirwere chakadai idambudziko, asi mazano akakodzera ekurapa, kurapwa, uye rudo rwako zvichava simba guru kumwana wako kuti ararame hupenyu hwakanakisisa.

Morquio Syndrome, MPS IV, zvirwere zvemajini, kukura kwemapfupa, ma enzymes, glycosaminoglycans, vana