Unoziva here nezvechirwere ichi chisingawanzoitiki? Cardiofaciocutaneous Syndrome

Wakambonzwa nezveCardiofaciocutaneous Syndrome, kana kuti CFC Syndrome sezvatinoidaidza muchidimbu here? Idambudziko risingawanzoitiki, zvichireva kuti harisi chirwere chinokanganisa munhu wese. Asi rinogona kukanganisa nhengo dzakawanda dzemuviri wedu. Rinonyanya kukanganisa mwoyo (cardio-), kumeso (facio-), uye ganda nebvudzi (cutaneous). Kwete izvozvo chete, asi chirwere ichi chinogonawo kukonzera kunonoka kwekukura uye matambudziko ekukura kwepfungwa muvana. Saka, ngatitaurei nezvazvo zvakadzama, handiti?

Chii chinonzi Cardiofaciocutaneous Syndrome (CFC Syndrome)?

Zvichitaurwa zviri nyore, ichi chirwere chemajini . Kureva kuti, chinokonzerwa nekuchinja (mutation) mumajini edu. Ichi chirwere chiri muboka rezvirwere zvinonzi `RASopathy`. `RASopathies` iboka rezvirwere zvemajini zvinokonzerwa nekukanganisika munzira ye`RAS`, nzira iyo masero mumuviri wedu anotaurirana. Funga nezvazvo semasero ari mumuviri wedu anotumirana mameseji madiki. Kana kuchinjana uku kwemashoko kukasaitika zvakanaka, matambudziko akasiyana-siyana anogona kumuka.

Kana tichitarisa kuti chirwere cheCFC chakajairika sei, hachiwanzoitiki . Mimwe mishumo inoratidza kuti chirwere ichi chinobata mwana mumwe chete pavana 810,000. Zvinyorwa zvekurapa zvinongotaura nezvevanhu vashomanana chete vane chirwere ichi. Zvisinei, masayendisiti anotenda kuti nhamba yacho inogona kunge yakakwira zvakanyanya. Izvi zvinodaro nekuti dzimwe nguva zviratidzo zvacho hazvinyanyi kuonekwa. Chirwere cheCFC chinogonawo kuvhiringidzwa nezvimwe zvirwere zvemajini.

Ndezvipi zviratidzo zvinogona kukonzera chirwere cheCFC?

Zviratidzo zvinogona kusiyana zvikuru kubva pamunhu nemunhu. Vamwe vanhu vane zviratidzo zvisina kunyanya kuoma, nepo vamwe vanogona kunge vaine zviratidzo zvakakomba. Zvakare, zviratidzo izvi zvinogona kukanganisa nhengo dzakasiyana dzemuviri.

Zviratidzo zvine chekuita nemoyo

Kazhinji, vana vane CFC syndrome vanozvarwa vaine mamwe matambudziko emwoyo . Izvi zvinonzi congenital heart defects. Zviratidzo izvi zvinogona kuonekwa dzimwe nguva pakuzvarwa, kana kuti zvinogona kuoneka gare gare. Heano mimwe mienzaniso:

• Kuva nevharuvhu yemwoyo isina kujairika inokanganisa kufamba kweropa kubva pamwoyo kuenda kumapapu.
• Kugunun'una kwemoyo inzwi risinganzwisisike rinonzwika mumoyo.
• Buri riri pakati pemakamuri maviri epazasi emwoyo (Ventricular Septal Defect).
• Kuva neburi riri pakati pemakamuri maviri epamusoro emoyo (Atrial Septal Defect).
• Kupera simba kana kukora kwetsandanyama yemoyo (Hypertrophic Cardiomyopathy).

Zviratidzo zvine chekuita neganda nebvudzi

Vanhu vose vane chirwere ichi vachaona shanduko dziri kuitika paganda ravo nebvudzi.

• Kuva neganda rakaoma uye rakakombama . Ringasave rakatsetseka seremwana mucheche, asi rakaoma uye rakakombama zvishoma.
• Mavanga ekuzvarwa ari rima (nevi)Kuona zvimwe.
• Kudzikira kwetsiye kana tsiye kana tsiye .
• Vhudzi rinova rakatetepa, rinooma, rinooma, uye rinoita serinotsvedza .
• Kuonekwa kwemapundu madiki akaita semapundu (Keratosis Pilaris) pamaoko, makumbo, uye kumeso.
• Ganda rakamonana pazvanza netsoka.

Kuchinja kwechitarisiko chechiso

Zvimwe zvinhu zvinogona kuonekwawo pachitarisiko chechiso chevana vane chirwere ichi.

• Chiso chakafara, chakareba .
• Kurembera kwemaziso (Ptosis).
• Kureba kwemaziso pakati pemaziso uye kutsvedza kwemaziso pasi.
• Huma yakareba uye yakamanikana kumativi ese.
• Kuva nemusoro wakakura kupfuura wakajairika (Macrocephaly).
• Nzeve dziri pasi pemazinga akajairika.
• Mhino pfupi.
• Chirebvu chidiki.

Mamwe matambudziko angave nevana

Vana vane chirwere ichi vanogona kusangana nemamwe matambudziko:

• Kunonoka kukura uye matambudziko ekukura kwepfungwa (kazhinji ari pakati nepakati kusvika akanyanya).
• Kuomerwa nekudya .
• Mvura yakawandisa muuropi (Hydrocephalus).
• Kuderera kwemazinga ehomoni yekukura.
• Kubatwa nepfungwa dzakaipa .
• Kuwedzera huremu uye kutadza kukura (Kukundikana kukura).
• Matambudziko ekuona .
• Kushaya simba kwetsandanyama uye kuremara (Hypotonia).

Chii chinokonzera chirwere cheCFC?

Chirwere cheCFC chinokonzerwa nekuchinja-chinja kweimwe yemajini akati wandei. Majini aya ndeaya:

• Jini re'BRAF' (rinowanzo kanganiswa)
• Majini ekuti `MAP2K1` ne`MAP2K2` (echipiri anonyanya kuwanikwa)
• Jini re'KRAS' (risingawanzoitiki)

Majini aya anorayira miviri yedu kugadzira mapuroteni akakosha pakutaurirana kwemasero. Maitiro aya ekutaurirana anonzi `RAS/MAPK pathway`. Maitiro aya akakosha pakukura kwemwana ari mudumbu.

Zvisinei, vamwe vanhu vakaonekwa vaine chirwere cheCFC havana kuwanikwa vaine chero chekuchinja kwemajini uku. Masayendisiti anotenda kuti vanhu vakadaro vanogona kunge vaine `Costello Syndrome` kana `Noonan Syndrome`.

Chirwere cheCFC chinogara nhaka here?

Kazhinji, chirwere cheCFC hachigarwi nhaka . Kuchinja kwemajini uku kunowanzoitika panguva yekukura kwemwana ari mudumbu. Vanhu vazhinji vane chirwere ichi havana nhoroondo yemhuri yechirwere ichi.

Zvisinei, kashoma , chirwere ichi chinogona kugara nhaka kubva kuchizvarwa kuenda kune chimwe. Kana chikagara nhaka, chinoitika nenzira ye "Autosomal Dominant". Izvi zvinoreva kuti kunyangwe mwana akagara nhaka kopi imwe chete yejini rakachinja kubva kune mumwe mubereki asina chirwere asi ane jini rakachinja, mwana anogona kuramba achirwara.

Ungaziva sei chirwere ichi?

Dzimwe nguva chirwere cheCFC chinowanikwa mwana asati aberekwa, panguva yekuzvitakura,Kuongororwa kweultrasound kwemwana asati aberekwa kunogona kupa zviratidzo, zvakaita sekuwedzera kwehuwandu hwemvura yeamniotic yakakomberedza mwana ari mudumbu, kana kuti musoro nemuviri wemwana ari mudumbu zvakakura kupfuura zvaitarisirwa.

Zvisinei, chirwere ichi chinowanzoonekwa achiri mucheche . Kana mwana wako aine zviratidzo zvemuviri zvine chekuita nechirwere ichi, chiremba anogona kuraira bvunzo dzakadai se:

• Tarisa mashandiro emwoyo wemwana uchishandisa bvunzo dzakadai se `Electrocardiogram (ECG)` , `Echocardiogram` , kana `Cardiac Catheterization` .
• Kuongororwa kwemajini eMolecular kuti uone shanduko dzemajini. Izvi zvinowanzoda ropa kana sampuli yemasero anotorwa kubva mukati medama.
• Kuongororwa kweX-ray, CT scan, MRI, kana ultrasound kuti vaone kana paine zvimwe zvinhu zvisina kujairika mumoyo wemwana, muuropi, kana mune dzimwe nhengo dzemuviri.
• Edza mafungu europi uye chiitiko chekurohwa nepfungwa uchishandisa `Stereoelectroencephalography (SEEG)` .
• Tarisa mukati memaziso emwana uchishandisa bvunzo dzekuona dzakadai se 'Ophthalmoscopy' .

Chirwere cheCFC chinorapwa sei?

Kutaura zvazviri, hapana mushonga chaiwo weCFC syndrome. Vana vane chirwere ichi vanoda rubatsiro rwechikwata chevanachiremba vane hunyanzvi hwakasiyana-siyana, kusanganisira:

• Chiremba wemwoyo
• Chiremba weganda
• Nyanzvi yeEndocrinologist (chiremba anonyanya kugadzirisa hurongwa hwe endocrine)
• Chiremba ane hunyanzvi mukugaya chikafu (Gastroenterologist)
• Nyanzvi yezvemajini
• Chiremba wetsinga
• Nyanzvi yekurapa pabasa
• Chiremba wemaziso
• Chiremba wevana
• Chiremba weMiviri
• Nyanzvi yeX-ray
• Nyanzvi yeKutaura

Nzira dzekurapa dzinosiyana zvikuru zvichienderana nezvinodiwa nemwana wega wega. Zvisinei, dzinogona kusanganisira:

• Mishonga inorwisa utachiona yekudzivirira hutachiona, kunyanya kana mwana aine chirwere chemwoyo.
• Dzivisa pfari uchishandisa mishonga inorwisa pfari .
• Kuisa chubhu yekudyisa mwana nepamhino kana nepaganda redumbu kuti mwana awane macalorie nezvinovaka muviri.
• Kuvandudza kuona nekushandisa magirazi, magirazi ekuona, kana kuvhiyiwa .
• Zvikafu zvine macalorie akawanda uye zvinovaka muviri .
• Mafuta ekuzora kana mafuta ekuzora ganda rakaoma.
• Mishonga yekuvandudza mashandiro emwoyo wemwana kana kuderedza matambudziko ekugaya chikafu.
• Mishonga yekuwedzera huwandu hwemahormone ekukura.
• Kuisa shunt yekubvisa mvura yakawandisa yakakomberedza uropi hwemwana uye kuderedza kumanikidzwa kwemuviri.
• Kuvhiyiwa kwekugadzirisa matambudziko emwoyo. Vamwe vana vangada kuvhiyiwa kwemoyo kugadzirisa vharuvhu yemapapu isina kunaka.

Ndeipi nguva yekurarama neCFC syndrome?

Nguva yekurarama kwemunhu ane chirwere cheCFC inoenderana nekuoma kwezviratidzo zvake. Zvisinei, kana akaongororwa uye akarapwa zvakanaka, vanhu vazhinji vane chirwere ichi vanorarama hupenyu hwakajairwa.

Chinhu chinonyanya kukosha ndechekupa mwana rutsigiro nekurapwa panguva yakakodzera, kuitira kuti ararame hupenyu hwakanaka.

Chirwere cheCFC chinogona kudzivirirwa here?

Nekuti chirwere ichi chinokonzerwa nekuchinja kwemajini kusingatarisirwi, hapana nzira yekudzivirira kuchinja kunokonzera chirwere cheCFC.

Chii chimwe chandinofanira kubvunza chiremba wangu nezvechirwere cheCFC?

Kana mwana wako aine CFC syndrome, zvakanaka kubvunza chiremba wako mibvunzo yakaita seiyi:

• Izvi zvingava `Costello Syndrome` here kana `Noonan Syndrome`? Sei uchitaura/usingataure izvozvo?
• Kuchinja kwemajini uku kwakagara nhaka here kana kuti kwakaitika netsaona?
• Mwana wangu ane chirwere chemwoyo here?
• Mwana wangu ane mvura yakawandisa muuropi hwake here?
• Mwana wangu achabatwa nepfari here?
• Dambudziko iri richakanganisa kuona kwemwana wangu here?
• Mwana wangu achada kuvhiyiwa here kana kuti mushonga?
• Tingaita sei kuti mwana wangu awane kudya kwaanoda?
• Pane zviratidzo zvakakosha zvandinofanira kuudza chiremba nezvazvo here?
• Kuremara kwepfungwa kwakakomba sei?
• Ndevapi nyanzvi dzatinofanira kuona uye kangani?
• Pane mapoka ekutsigirana anogona kutibatsira kugadzirisa mamiriro ezvinhu aya here?
• Munokurudzira mazano ezvemajini here?

Chii chakasiyana pakati peCFC syndrome, Costello syndrome, uye Noonan syndrome?

Zviratidzo zveCFC syndrome zvakafanana zvikuru neCostello Syndrome neNoonan Syndrome. Kusiyanisa zvirwere zvitatu izvi zvemajini kunogona kuoma, kunyanya muhucheche.

Zvisinei, zvirwere zvese zvitatu zvinokonzerwa nekuchinja kwemajini kwakasiyana . Zvakare, kusiyana neCFC syndrome, munhu ane Costello Syndrome ari panjodzi yakakura yekubatwa nekenza .

Paunotanga kunzwa kuti mwana wako ane chirwere chemajini chakadai seCardiofaciocutaneous Syndrome (CFC Syndrome), unogona kunge wakaneta nemanzwiro. Rwendo rwekuenda kunoongororwa chirwere runogona kuva rwendo rwakaoma rwekusangana nevanhu. Uye nerutsigiro rwese rwaunoda mwana wako, mazuva ako anogona kunge akabatikana. Asi zvakakosha kuti uzvipe nguva yako wega uye uedze kudzora kushushikana kwako.Tsvaga nzira dzekutaurirana nevamwe vabereki vane vana vane zvirwere zvisingawanzoitiki. Kune nharaunda dzakawanda paindaneti, uye vanachiremba vemwana wako vanogona kunge vachiziva nezvehukama hwakadaro.

Mharidzo Yekuenda Nayo Kumba

Cardiofaciocutaneous syndrome (CFC Syndrome) chirwere chisingawanzoitiki asi chinogona kukanganisa majini. Usatye kana ukaonekwa uine chirwere ichi.

• Dambudziko iri rinogona kukanganisa moyo, kumeso, ganda, bvudzi, uye kukura kwemwana.
• Kunyangwe pasina mushonga chaiwo, kune nzira dzakasiyana-siyana dzekurapa uye rubatsiro rwechiremba rwenyanzvi dzinogona kubatsira kudzora zviratidzo .
• Vana vazhinji vanogona kurarama hupenyu hwakanaka kana vakarapwa zvakanaka uye vachitarisirwa zvakanaka.
• Hausi wega. Tsvaga rubatsiro kubva kuna vanachiremba, vapi vemazano, nemamwe mapoka ekutsigira vabereki.
• Chinhu chinonyanya kukosha kuda nekutsigira mwana wako uye kushanda nesimba kuti ararame hupenyu hwakanaka.

Kana muine mimwe mibvunzo nezvenyaya iyi, musazeza kutaura nachiremba wenyu. Vanogona kukupai tsananguro nenhungamiro.

` Cardiofaciocutaneous syndrome, CFC Syndrome, Zvirwere zvemajini, Chirwere chemwoyo, Zvirwere zveganda, Kunonoka kukura, Hutano hwevana, RASopathy