Mwana wako anoita seari kukurumidza kukwegura here? Ngatidzidzei nezveCockayne Syndrome!

Dzimwe nguva tinonzwa kutya zvikuru patinoona shanduko mukukura kwevana vedu, handiti? Kunyanya kana mwana akaita zvakasiyana nevamwe vana, kana patinoona shanduko dzemuviri. Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha kwazvo chekuziva. Ndiyo Cockayne Syndrome. Unganetseka paunonzwa zita iri, asi ngatitaurei nezvazvo zviri nyore uye zvakajeka.

Chii chinonzi Cockayne Syndrome?

Zvichitaurwa zviri nyore, Cockayne Syndrome chirwere chisingawanzoitiki, chinogara nhaka. Muizvi, masero ari mumuviri wemwana haakure zvakanaka, uye anoratidza zviratidzo zvekukwegura nguva isati yakwana (progeria) . Fungidzira, kunyangwe ari mwana mudiki, chitarisiko chake nemamwe mabasa emuviri zvinotanga kufanana neakechembera.

Pamwe chete nechirwere ichi, zvimwe zviratidzo zvikuru zvinogona kuonekwa:

• Kunzwa chiedza: Kutaura chokwadi, ganda rinopisa nekukurumidza kana rakaiswa muzuva, uye maziso anonzwawo kusagadzikana.
• Kureba uye huremu hwemwana hazvina kunyanya kuenzana nezvakajairika .
• Kukanganisika kwepfungwa kunofambira mberi: Nekufamba kwenguva, zvinhu zvakaita sekurangarira nekugona kudzidza zvinogona kudzikira zvishoma nezvishoma.

Kune marudzi akasiyana eCockayne Syndrome here?

Ehe, kune mhando nhatu huru dzechirwere ichi, chimwe nechimwe chine zviratidzo zvacho zvakasiyana uye kuoma kwacho.

1. Rudzi rwekutanga (rwekare): Urwu ndirwo rudzi rwakajairika. Zviratidzo zvinotanga kuoneka mwana ava negore rimwe chete. Zviratidzo izvi zvinowedzera zvishoma nezvishoma nekufamba kwenguva.

2. Rudzi rwechipiri (rwakaberekwa narwo): Urwu ndirwo rudzi rwakanyanya kuoma. Zviratidzo zvinoonekwa pakuzvarwa. Vana ava vanokura zvishoma nezvishoma.

3. Rudzi rwechitatu: Izvi hazviwanzoitiki. Zviratidzo hazvina kunyanya kuipa. Zvakare, zviratidzo izvi zvinoonekwa pave paya.

Dambudziko iri rakajairika zvakadii?

Cockayne Syndrome chirwere chisingawanzoitiki. Zvinonzi chirwere ichi chinoitika muvana vaviri kusvika vatatu chete pamamiriyoni ega ega munyika dzakadai seAmerica neEurope. Varwere vakadaro vanowanikwawo dzimwe nguva muSri Lanka.

Chii chinokonzera Cockayne Syndrome?

Izvi zvakaoma zvishoma, asi ndichazvitsanangura zviri nyore. Masero emuviri wedu ane chimwe chinhu chinonzi `DNA`. Zvakafanana nebhuku rine ruzivo rwese runodiwa nemuviri wedu kuti ushande. `DNA` iyi inogona kukuvara nekuda kwezvikonzero zvakasiyana-siyana. Semuenzaniso:

• Mwaranzi
• Makemikari ane chepfu
• Chiedza che ultraviolet chinobva kuzuva
• Mamorekuru asina kugadzikana anoumbwa mumuviri wedu (free radicals)

Kazhinji, mumuviri wemunhu ane hutano, kana "DNA" iyi yakakuvara, pane nzira yakakosha yekuigadzirisa. Kungofanana nepanenge paine chimwe chinhu mumba chakatyoka, chinogadziriswa.

Zvisinei, muvana vane Cockayne Syndrome, iyi `DNA` repair process (`DNA repair disorder`) haishande nemazvo. Chikonzero cheizvi imutations mumajini `ERCC6` kana `ERCC8`. Majini aya anobatsira mukugadzirisa `DNA`. Saka, kana majini aya asingashande nemazvo, kukuvara kwe`DNA` kunoungana pasina kugadziriswa. Ipapo masero haagone kuita basa rawo nemazvo. Ndiyo chikonzero chikuru chezviratidzo izvi zvese.

Ndezvipi zviratidzo zveCockayne Syndrome?

Dambudziko iri rinogona kukanganisa nhengo dzakasiyana dzemuviri. Ngationei kuti chii.

Zviratidzo zvine chekuita nemaziso:

Maziso ndiwo mumwe wemitezo inonyanya kubatwa nechirwere ichi.

• Ruvara rusina kujairika rwe retina yeziso.
• Kufuridza kwelenzi yeziso, kwakafanana nekatarakita.
• Maziso akapatsanurwa (strabismus).
• Kusakwanisa kuvhara maziso emaziso zvachose.
• Kuona zviri kure.
• Misodzi yakadonha kubva mumaziso.
• Kupera kwemaziso.
• Kupera simba zvishoma nezvishoma kwe retina (retina degeneration).
• Maziso madiki pane akajairwa (microphthalmia).
• Maziso akanyura (enophthalmos).

Zvimiro zvechiso:

Zvimwe zvinhu zvinogona kuonekwawo muchitarisiko chechiso.

• Kuora kwezino kunowanzoitika nekuda kwekusarongeka zvakanaka kwezino.
• MaEarlobes anokura kupfuura zvakajairika uye anochinja chimiro.
• Musoro mudiki (microcephaly).
• Kutetepa kwemhino.
• Kubuda kweshaya dzepamusoro nedzepasi (prognathism).

Matambudziko ane chekuita nemahormone:

• Kunonoka kuyaruka.
• Matambudziko ekubereka.
• Machende asina kudzika muvakomana.

Hunhu hune chekuita nehurongwa hwetsinga nekukura:

Izvi zvinokanganisa zvikuru mabasa emwana ezuva nezuva.

• Kuoma kwetsandanyama zvisina kujairika (spasticity).
• Kudzikira zvishoma nezvishoma kwehunyanzvi hwepfungwa.
• Kunonoka kukura (semuenzaniso, kunonoka kufamba, kutaura).
• Kuoma kutaura (aphasia).
• Kudedera kwemakumbo (Kudedera kunokosha).
• Matambudziko ekufamba uye kubatana kwemuviri (ataxia).
• Matambudziko ekudzidza.
• Mamiriro epfari `(Kubatwa nepfari)`.

Zviratidzo zvine chekuita neganda:

• Kudzikira kwedikita (anhidrosis).
• Ganda racho rinokuvara nyore nyore uye rinova nemavanga.
• Kunzwa kutonhora kana uchibata ganda.
• Kuchinja ruvara rwebhuruu rweganda (cyanosis) (kunyanya mumakumbo).

Mimwe migumisiro:

• Kukwira kweropa.
• Mafuta akaunganidzwa akakomberedza mwoyo (atherosclerosis).
• Kukura kwechiropa.
• Kucheneruka kwebvudzi nguva isati yakwana.
• Kureba nehuremu zviri pasi pehuwandu hwakajairika (dwarfism).
• Kusanzwa zvakanaka.
• Majoini makuru.
• Kupera kwetsandanyama.
• Kurwara nepfungwa.
• Maoko nemakumbo marefu zvisina kujairika zvichienzaniswa nemuviri mupfupi.

Zvakakosha: Hazvisi zvese zviratidzo izvi zvinoonekwa pamwana wese, uye kuoma kwezviratidzo kunogona kusiyana kubva pamwana kusvika pamwana.

Cockayne Syndrome inoonekwa sei?

Chiremba anoongorora chirwere ichi nekutarisa hunhu hwemwana uye mhedzisiro yebvunzo chaiyo. Miedzo mikuru inoitwa ndeiyi:

• Kuongororwa kwemajini: Ropa remwana rinotorwa roongororwa kuti harina kuchinja here mumajini eERCC6 kana ERCC8.
• Kuongororwa kweganda: Kanyama kadiki keganda kanotorwa koedzwa murabhoritari kuti zvionekwe kuti muviri unogona kugadzirisa DNA. Vanhu vane Cockayne Syndrome vane mwero wekugadzirisa DNA unononoka kupfuura wakajairika.

Pane chimwe chinhu chakakosha pakuongorora chirwere ichi. Kureva kuti, zvakakosha kuona chiremba ane ruzivo rwakakwana nezvechirwere ichi. Nekuti kune zvimwe zvirwere zvine zviratidzo zvakafanana (semuenzaniso `Hutchinson-Gilford progeria syndrome`, `Laron syndrome`, `Seckel syndrome`). Saka, kuti uzive chirwere ichi nemazvo, zvakakosha kuti ukwanise kusiyanisa chirwere ichi nezvirwere zvakadaro.

Ndezvipi zvirongwa zvekurapa Cockayne Syndrome?

Zvinosuwisa kuti hapana mushonga weCockayne Syndrome. Zvisinei, izvozvo hazvirevi kuti hapana chatinogona kuita. Chinangwa chikuru chekurapa ndechekudzivirira nekurapa matambudziko anokonzerwa nechirwere ichi. Izvi zvinoda rutsigiro rwechikwata chevanachiremba vane nyanzvi dzakasiyana-siyana.

Ngatitarisei dzimwe nzira dzekurapa:

Kutarisirwa kwemazino:

• Kuongororwa mazino nguva dzose kwakakosha kudzivirira nekurapa kuora kwezino.

Kutarisira maziso:

• Madhaka emusoro angada kuvhiyiwa.
• Kune maziso akapatsanurwa, mamasiki emaziso anogona kushandiswa kusimbisa tsandanyama dzemaziso dzisina simba.
• Magirazi ekuona zviri pedyo.
• Magirazi ezuva ekudzivirira maziso ako kubva kuchiedza chakajeka.

Rutsigiro rwekupa chikafu:

• Vamwe vana vanogona kunetseka nekumedza chikafu. Muzviitiko zvakadaro, kudya kunogona kudiwa kuburikidza nechubhu inoiswa nemumhino ichipinda mudumbu (nasogastric tube) kana chubhu inoiswa zvakananga mudumbu ichipinda neganda (percutaneous endoscopic gastrostomy - PEG).

Kurapa kwekutaura, physiotherapy, uye occupational therapy:

• Zvishandiso zvinobatsira kuchengetedza nzvimbo yemuviri yechisikigo (semuenzaniso, corset).
• Kurapa muviri uye kurapwa kwebasa kugadzirisa matambudziko akadai sekufamba netsoka.
• Kurapa kwekutaura kuti zvikwanisike kutaura nekumedza.

Mamwe marapirwo:

• Zvirongwa zvedzidzo yakakosha yekuderedza kunonoka kwekukura.
• Mishonga kana kudya kwakakosha kudzora mafuta akaunganidzwa mumoyo.
• Zvishandiso zvekubatsira kunzwa kune vane matambudziko ekunzwa.
• Mishonga yekudzora kuomarara kwetsandanyama (spasticity), kudedera, BP yakakwira, uye pfari.
• Kudzivirira zuva kwakakosha zvikuru. Izvi zvinoreva kuderedza kupiswa nezuva, kupfeka ngowani, uye kupfeka mbatya dzine maoko marefu.

Ko Cockayne Syndrome inogona kudzivirirwa here?

Nekuti ichi chirwere chinokonzerwa nemajini, hapana chatingaita kuti chisaitike. Kana mwana akazvarwa aine chirwere ichi, chinomukanganisa kweupenyu hwake hwese.

Zvisinei, kana uri kuronga kutanga mhuri kana kuti uri kutarisira mumwe mwana, uye mumwe munhu mumhuri yako akambova neCockayne Syndrome, zvakakosha kuti uwane mazano ezvemajini uye kuongororwa kwemajini. Kuongororwa uku kunogona kukuudza kana iwe nemumwe wako mune ERCC6 kana ERCC8 gene mutation. Kana zvakadaro, mupi wezano wezvemajini anogona kukutsanangurira mukana wekuva nemwana ane Cockayne Syndrome.

Chii chinonzi fungidziro yevana vane Cockayne Syndrome?

Cockayne Syndrome chirwere chinokanganisa makore ekurarama. Remangwana remwana rinoenderana nerudzi rwechirwere.

• Rudzi 1: Avhareji yehupenyu hwemhuka iri pakati pemakore gumi nemakumi maviri.
• Rudzi rwechipiri: Vana ava havawanzorarama mushure mehudiki.
• Rudzi rwechitatu: Vazhinji vevana ava vanogona kurarama kusvika vakura.

Zvakaita sei kurarama neCockayne Syndrome?

Hupenyu hwemwana hwezuva nezuva hunoenderana nerudzi rweCockayne Syndrome yaanayo. Masevhisi ekutsigira vana vane hurema hwepfungwa nekukura anogona kubatsira kuita kuti hupenyu hwavo huve nyore. Masevhisi epamba nemunharaunda anowanikwa kubatsira nemabasa ezuva nezuva. Unogona kutowana mabasa ekubatsirana nevamwe vanhu akasiyana.

Vamwe vana vanopinda chikoro kusvika kugona kwavo kwepfungwa kwaderera. Zvirongwa zvedzidzo yemunhu mumwe nemumwe (IEPs) nevabatsiri vekudzidzisa zvinovabatsira kudzidza pamwe chete nevamwe vana. Zvisinei, vana vane marudzi akakomba echirwere ichi vangasabatsirwa zvakanyanya nekuenda kuchikoro. Pane kudaro, mabasa avo ezuva nezuva anogona kunge ari pamusoro pekurapwa nemishonga inovabatsira kuti vagare vakasununguka.

Zvakakosha: Vanhu vane Cockayne Syndrome vanogona kuita zvisingawanzoitiki kune mimwe mishonga.Zvikuru sei, metronidazole, mushonga unorwisa utachiona unoshandiswa kurapa hutachiona, unofanirwa kudzivirirwa. Mushonga uyu unogona kukonzera kutadza kwechiropa uye kutouraya vanhu vane Cockayne Syndrome. Saka, usati wapa chero mushonga, zivisa chiremba zvakajeka nezvemamiriro emwana.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Cockayne Syndrome chirwere chisingawanzoitiki, chinogara nhaka chinokonzerwa nekuchinja kwemajini eERCC6 kana ERCC8. Chinogona kukanganisa maziso emwana, kugona kwepfungwa, ganda, uye chitarisiko. Kunyangwe makore ekurarama kwevana ava ari mapfupi pane avhareji, marapirwo akasiyana-siyana uye masevhisi ekutsigira anogona kuwedzera kunyaradzwa kwavo uye kunaka kwehupenyu.

Kana uchifungidzira kuti mwana wako ane zviratidzo izvi, zvakanaka kuti usavhunduke, asi kuti ubvunze chiremba ane hunyanzvi nekukurumidza. Kuongororwa kwakakodzera uye kurapwa nekukurumidza kunogona kupa zororo guru kumwana wako. Yeuka, hausi wega, uye kune vanachiremba nevamwe vazhinji vanogona kukubatsira parwendo urwu.

Cocaine syndrome, zvirwere zvemajini, kugadziriswa kweDNA, kukwegura nguva isati yakwana, kunonoka kukura, kunzwa kwechiedza, zvirwere zvisingawanzoitiki