Wakambonzwa nezvechirwere chinonzi Coffin-Lowry Syndrome (CLS) here? Zita racho ringave idzva kwauri. Idambudziko risingawanzoitiki, rinokonzerwa nemajini risingawanzoitiki kuvanhu vazhinji. Rinogona kukanganisa nhengo dzakasiyana dzemuviri nenzira dzakasiyana. Ngatikurukurei nezvazvo nenzira iri nyore yaunogona kunzwisisa.

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Mamiriro ezvinhu aya akajairika zvakadii?

Kutaura zvazviri, chirwere ichi (Coffin-Lowry Syndrome) hachiwanzoitiki. Kutaura chokwadi, masayendisiti anoti chinoitika mumunhu mumwe chete pavanhu 50,000 kusvika 100,000. Izvi zvinoreva kuti chirwere chisingawanzoitiki. Chimwezve ndechekuti muzviitiko zvakawanda, kureva kuti, pakati pe70% ne80%, hapana munhu mumhuri angave akambova nechirwere ichi kare. Izvi zvinoreva kuti nyaya dzinoitika nguva nenguva ndidzo dzinonyanya kuitika.

Ndiani ane mukana mukuru wekuwana chirwere ichi?

Chirwere ichi (CLS) chinogona kubata vakomana nevasikana. Zvisinei, zviratidzo zvinowanzova zvakanyanya kuvakomana. Kunyanya, vakomana vane (CLS) vanowanzova nekuremara kwepfungwa kwakanyanya. Zvisinei, mamiriro acho ezvinhu akasiyana zvishoma kune vasikana. Vamwe vasikana vanogona kunge vaine njere dzakajairwa, nepo vamwe vangave nekuremara kwepfungwa kudiki, kuri pakati nepakati, kana kwakanyanya. Zvinosiyana kubva kumunhu kuenda kune mumwe.

Sei izvi zvichiitika? Ndezvipi zvikonzero zveizvi?

Kazhinji, chirwere cheCoffin-Lowry chinokonzerwa nekuchinja kwemajini kunonzi RPS6KA3 mumuviri wedu. Zvino ungave uchishamisika kuti jini chii, handiti? Zvichitaurwa zviri nyore, majini akafanana nemirairo midiki mumuviri wedu. Zvinhu zvakaita seruvara rwebvudzi redu, kureba, uye ruvara rweganda zvinotemerwa nemajini aya. Saka, jini iri reRPS6KA3 rinogadzira puroteni yakakosha inobatsira masero edu "kutaurirana", ndiko kuti, kuchinjana ruzivo. Kana paine chikanganiso, ndiko kuti, kuchinja, mujini iri, kugadzirwa kwepuroteni iyoyo mumuviri kunoderera. Zvisinei, masayendisiti haasati anyatsojeka nezvekuti kudzikira kwepuroteni iyi kwakabatana sei neCoffin-Lowry syndrome.

Pane dzimwe nguva apo vamwe vanhu vane chirwere chinonzi (CLS) asi hapana shanduko inowanikwa mujini ravo reRPS6KA3. Muzviitiko zvakadaro, chikonzero chechirwere ichi chichiri chakavanzika.

Ndezvipi zviratidzo zveizvi?

Zviratidzo zveCoffin-Lowry syndrome zvinogona kusiyana zvikuru kubva pamunhu kuenda kune mumwe. Sezvambotaurwa, zvinonyanya kuipa muvakomana. Zviratidzo izvi zvinokanganisa nhengo dzakasiyana dzemuviri uye zvinoonekwa zvakanyanya nekukura.

Zvinhu zvakakosha zvinoonekwa pachiso

Pane zvimwe zvinhu zvinogona kuonekwa pachitarisiko chechiso chevanhu vane chirwere ichi. Izvi ndeizvi:

Maziso akaparadzaniswa zvishoma kupfuura zvakajairika, uye makona emaziso anoita seanotsvedza zvishoma pasi.
Nzeve dzakakura kupfuura zvakajairika uye dzakadzika pasi.
Huma, tsiye, nechirebvu zvinoonekwa zvakajeka.
Mhino yakasimudzwa mudenga uye mhino dzakafara.
Muromo wakafara uye miromo yakakora.

Zvinhu zvakakosha zvinogona kuonekwa pamaoko

Dzimwe shanduko dzinogona kuonekwawo mumaoko:

Zvigunwe zvine majoini maviri.
Minwe yacho yakakora pasi uye yakatetepa kusvika kumagumo (minwe yakatetepa).
Maoko acho anonzwa akakura uye akapfava.

Matambudziko anogona kuonekwa mumasumbu

Panogonawo kuva nematambudziko nemapfupa emuviri:

Hunchback, zvinoreva chimiro chakakotama (kyphosis kana scoliosis) inoonekwa.
Matambudziko emazino; semuenzaniso, kuchinja kwechimiro chemuromo, mazino asipo, nezvimwewo.
Pfupa repakati pechipfuva rinobuda mberi kana kunyura mukati.
Kupfupika kwemapfupa marefu emakumbo (semuenzaniso, femur, tibia, uye humerus).
Kupfupika kwehurefu (kupfupika kwehurefu).
Musoro mudiki pane saizi yakajairika (Microcephaly).

Zvimwe zviratidzo zvakajairika

Pamusoro peizvi, zvimwe zviratidzo zvinogona kuonekwa:

Kunonoka kukura uye kuremara kwepfungwa.
Kurwiswa nekudonha kwemvura: Izvi zvakasiyana. Fungidzira, vachipindura ruzha rusingatarisirwi, chiitiko chisingatarisirwi, kana manzwiro akasimba, vanongoerekana vawira pasi, vachiita sevasina chavanoziva. Chinhu chinoshamisa ndechekuti, vanenge vachiziva panguva iyoyo, asi havakwanise kudzora muviri wavo. Izvi zvinonzi (Stimulus-induced drop episodes).
Kusanzwa zvakanaka.
Ganda racho rakasununguka uye rakatambanuka.
Matambudziko emwoyo, chiropa, kana itsvo.
Chigunwe chikuru chetsoka chakapfupikiswa.
Kuoma kutaura.
Kushaya simba kwetsandanyama uye kurasikirwa nesimba.

Unoziva sei chirwere ichi?

Pane nzira dzakasiyana-siyana dzinogona kushandiswa nachiremba kuona chirwere cheCoffin-Lowry:

Kutarisa zviratidzo: Chiremba anoongorora mwana nokungwarira kuti aone kana aine zviratidzo zvataurwa pamusoro apa.
Kuongororwa kwemajini: Kuongororwa kwematama kana ropa kunogona kusimbisa kana paine shanduko mujini reRPS6KA3.
X-rays: X-rays inogona kubatsira kuona mhedzisiro yemusana, zvigunwe, nemapfupa marefu.
Kuskena kweuropi (Neuroimaging studies): Kunyangwe izvi zvichishandiswa kudzidza zvakawanda nezveuropi, izvo zvega hazvigone kunyatsoongorora chirwere chacho.

Pane mushonga wakakwana weizvi here? Mishonga yacho ndeipi?

Zvinosuwisa kuti hapana mushonga kana mushonga chaiwo weCoffin-Lowry syndrome. Chinangwa chikuru ndechekugadzirisa chirwere ichi, kuderedza zviratidzo, uye kubatsira vanhu kurarama zvakanaka uye vachifara sezvinobvira.

Vanhu vane chirwere ichi vangangoda kuona vanachiremba vakawanda kakawanda. Semuenzaniso:

Vanachiremba venzeve: Ava ndivo vanotarisira matambudziko ekunzwa.
Vanachiremba vemwoyo: Ava ndivo vanhu vanoongorora nekurapa matambudziko emwoyo.
Vanachiremba vetsinga: Ava ndivo vanachiremba vanorapa matambudziko ane chekuita neuropi netsinga.
Vanachiremba vemaziso: Kune matambudziko ane chekuita nekuona.
Vanachiremba vemapfupa: Ava ndivo vanhu vanorapa matambudziko emapfupa, majoini, uye musana .
Nyanzvi dzemazino: Nezve mazino nehutano hwemuromo.
Varapi vezvemabasa: Batsira vanhu kuita mabasa ezuva nezuva, akadai sekudya nekunyora, zvinobudirira.
Varapi vemuviri: Vanobatsira kuvandudza simba remuviri nekufamba-famba.
Varapi vekutaura: Vanobatsira nezvinetso zvekutaura nekunonoka.

Panyaya dzekudonha kweropa dzataurwa kare, chiremba anogona kunyora mishonga yekurwisa pfari kana mishonga yekuderedza kuzvidya mwoyo. Kuremara kwakanyanya kwemafupa kunogona kuda kuvhiyiwa.

Chiremba wako anogonawo kukukurudzira kuti uwane mazano ezvemajini.

Ndingadzivirira izvi kuti zvisaitike kumwana wangu here?

Masayendisiti haasati aziva kuti chii chinokonzera kuchinja kwemajini uku, kana kuti chii chinokonzera izvo zvinonzi zviitiko zvesporadic. Saka, parizvino hapana nzira yekudzivirira chirwere cheCoffin-Lowry. Amai vane chirwere ichi vane mukana we50% wekuti mwana wavo achagara nhaka chirwere ichi. Kuongororwa kwemajini vasati vaberekwa kunogona kuona kuvapo kwekuchinja kwemajini uku panguva yekuzvitakura. Chiremba wako anogonawo kukurudzira kuti nhengo dzemhuri yepedyo dzipihwe mazano ekugadzira majini.

Chii chinoitika kana ini kana mwana wangu tiine chirwere ichi? Remangwana richange rakaita sei?

Zvino ungave uchifunga kuti, "Kana mwana wangu aine chirwere ichi, ramangwana rake richave rakaita sei?" Kutaura zvazviri, havasi vese vane Coffin-Lowry Syndrome vakafanana. Vamwe havanyanyi kubatwa, vamwe vanobatwa zvakanyanya. Saka, ramangwana remunhu wega wega rinosiyana. Zvinoenderana nekuti ndeapi nhengo dzemuviri dzinobatwa uye kuti migumisiro yacho yakakura sei.

Chinonyanya kukosha ndechekuti kunyangwe mwana ane chirwere ichi anogona kubudirira muhupenyu nepaanogona napo kana akapihwa rutsigiro, kurapwa, uye rudo.

Ko chirwere cheCoffin-Lowry chinogona kutyisidzira hupenyu here?

Dambudziko iri rinogona kupfupisa makore ekurarama kusvika pamwero wakati. Dzimwe ongororo dzakaratidza kuti vakomana vanosvika 13.5% ne4.5% yevasikana vane dambudziko iri vanofa, paavhareji, pazera remakore 20.5. Zvisinei, izvi hazviwanzoitika kune wese munhu.

Chii chimwe chandingabvunza chiremba wangu nezvenyaya iyi?

Kana iwe kana mwana wako aine CLS, ungangoda kubvunza chiremba wako mibvunzo yakaita seiyi:

"Ndedzipi nhengo dzemuviri wangu/wemwana wangu dzinokanganiswa nechirwere ichi?"
"Pane migumisiro inotyisidzira hupenyu inobva mumigumisiro iyi here?"
"Ndeapi manyanzvi atinofanira kuona? Tinofanira kuvaona kangani?"
"Munokurudzira mushonga here kana kuvhiyiwa?"
"Pane mapoka ekutsigirana anogona kutibatsira kurarama nemamiriro ezvinhu aya here?"
"Munofunga kuti zvingave zvakanaka here kuti tiwane mazano ezvemajini panyaya yedu?"
"Ipfungwa yakanaka here kuti mhuri yedu yese iongororwe majini?"

Saka, ndezvipi zvinhu zvakakosha zvatinofanira kurangarira kubva pane izvi zvese? (Mharidzo Yekuenda Kumba)

Coffin-Lowry Syndrome (CLS) chirwere chisingawanzoitiki, chinoberekwa nacho chinogona kukanganisa nhengo dzakawanda dzemuviri. Zviratidzo zvinosiyana kubva kumunhu kuenda kumunhu, asi chitarisiko chechiso, kuremara kwemafupa, uye kuremara kwepfungwa zvinowanza kuitika.

Kunyangwe pasina mushonga chaiwo weizvi, unogona kutsvaga rubatsiro kubva kune nyanzvi dzakasiyana-siyana nevarapi kuti vagadzirise zviratidzo zvako uye vararame hupenyu hwako zvakanaka sezvinobvira.

Kana uchifungidzira kana kuti wakamboonekwa uine chirwere ichi, ndapota tsvaga mazano echiremba. Vachakupa gwara nerutsigiro rwaunoda. Yeuka, hausi wega. Kune zviwanikwa nemapoka ekutsigira anogona kubatsira mhuri dziri kutarisana nematambudziko aya.