Mwana wenyu ane zviratidzo izvi here? Ngatidzidzei nezveShprintzen-Goldberg Syndrome (SGS)

Nhasi tichataura nezvechirwere chisingawanzoitiki chemajini, zvinoreva kuti havasi vese vanochiona. Chinonzi Shprintzen-Goldberg Syndrome (SGS). Ungangove usina kumbonzwa nezvezita iri. Asi zvakakosha kuziva nezvezvirwere zvakadaro, nekuti ipapo tinogona kukurumidza kuziva zviratidzo uye kuwana mazano ekurapa anodiwa.

Chii chinonzi Shprintzen-Goldberg Syndrome (SGS)?

Zvichitaurwa zviri nyore, Shprintzen-Goldberg Syndrome (SGS) chirwere chisingawanzoitika chinokanganisa nhengo dzakasiyana dzemuviri wedu. Chinonyanya kukonzera kuti mwana ave nezvimwe zvinhu zvisingawanzoitiki pachiso, kusangana kwemapfupa edehenya nguva isati yakwana (izvi zvinonzi ``Craniosynostosis''), kuchinja kwakasiyana-siyana kwemapfupa, matambudziko europi netsinga (semuenzaniso, kunonoka kukura kwepfungwa), uye dzimwe nguva mamwe matambudziko emwoyo.

Kune mamwe mazita maviri anoshandiswa pachirwere ichi, ``Marfanoid-craniosynostosis syndrome'' uye ``Shprintzen-Goldberg craniosynostosis syndrome''. Kunyange zvazvo mazita acho angaita seakaoma zvishoma, chinhu chikuru ndechekunzwisisa kuti ichi chirwere chemajini.

SGS yakajairika zvakadii?

Chirwere cheShprintzen-Goldberg chirwere chisingawanzoitiki. Kusvika pari zvino, zvinyorwa zvekurapa zvangotaura nezvevanhu vashoma pane makumi mashanu vane chirwere ichi. Izvi zvinoreva kuti pasi rose pane vanhu vashoma chete vane chirwere ichi.

Chimwe chinhu pamusoro peizvi ndechekuti zviratidzo zveSGS zvakafanana nezvimwe zvirwere zviviri zvemajini zvinonzi Marfan Syndrome neLoeys-Dietz Syndrome, saka dzimwe nguva zvinogona kuoma kuti vanachiremba vaongorore chirwere ichi nemazvo. Saka, zvakaoma kutaura kuti vangani chaizvo vane chirwere ichi.

Ndeupi musiyano uripo pakati peShprintzen-Goldberg Syndrome, Marfan Syndrome, uye Loeys-Dietz Syndrome?

Kunyangwe zviratidzo zvezvirwere izvi zvitatu zvingaita sezvakafanana, zvinokonzerwa nekuchinja kwemajini kwakasiyana . Kunyanya, vanhu vane SGS vane mukana wekuva nehurema hwepfungwa. Vanewo mukana wakaderera wechirwere chemwoyo pane avo vane Marfan Syndrome neLoeys-Dietz Syndrome. Asi yeuka, zvinhu izvi zvose zvinogona kusiyana kubva kumunhu kusvika kumunhu.

Ndezvipi zvinokonzera chirwere cheShprintzen-Goldberg (SGS)?

Kazhinji, chikonzero chikuru cheSGS kuchinja kwemajini kunonzi `(SKI)` mumuviri wedu. Iri jini reSKI rinogadzira puroteni inobatsira mumabasa akawanda akakosha mumasero edu, akadai sekukura, kupatsanurwa, kufamba, kukura, uye kufa.

Chimbofungai, sezvo puroteni iyi yeSKI iripo munyama dzakasiyana-siyana mumuviri wedu, kana paine shanduko mujini iyi, inogona kukanganisa nhengo dzakasiyana dzemuviri. Ndosaka tichiona zviratidzo zvakasiyana-siyana muSGS.

Zvisinei, vamwe varwere vane SGS havana SKI gene mutation, saka masayendisiti achiri kuferefeta zvimwe zvinokonzera chirwere ichi muzviitiko zvakadaro.

Izvi zvinobva kuzvizvarwa nezvizvarwa here?

Kazhinji, chirwere cheShprintzen-Goldberg Syndrome hachigarwi nhaka.Kuchinja kwemajini uku kunowanzoitika zvisina tsarukano, kureva kuti, mushure mekubata pamuviri, panguva yekukura kwemwana ari mudumbu. Nokudaro, vanhu vazhinji vane chirwere ichi havana nhoroondo yemhuri yechirwere ichi.

Zvisinei, kashoma , chirwere ichi chinogona kutapurirwa kubva kumubereki kuenda kumwana. Kana chikapfuudzwa, chiri muchimiro che autosomal dominant pattern. Izvi zvinoreva kuti kunyangwe mwana akagara nhaka kopi yejini rakachinja kubva kumubereki mumwe chete, mwana anogona kuramba achikura.

Ndezvipi zviratidzo zveShprintzen-Goldberg Syndrome (SGS)?

Zviratidzo zveSGS zvinogona kusiyana zvikuru kubva kumunhu kusvika kumunhu. Vamwe vanhu vane zviratidzo zvisina kunyanya kuipa, nepo vamwe vanogona kunge vaine zviratidzo zvakakomba. Zviratidzo izvi zvinogona kukanganisa nhengo dzakasiyana dzemuviri.

Zviratidzo zvekusangana kwemapfupa edehenya nguva isati yakwana (`(Craniosynostosis)`):

Kana mapfupa emusoro wemwana akabatana nguva isati yakwana, kungave mudumbu kana pakuzvarwa, chirwere chinonzi ``Craniosynostosis'', zviratidzo zvakaita se:

• Musoro murefu, wakatetepa.
• Kureba pakati pemaziso, maziso achibuda mberi kana kuti achitsvedza pasi.
• Muromo wakareba, wakamanikana (kumusoro kwemuromo).
• Huma refu, rinoonekwa.
• Chirauro chidiki chepazasi.
• Nzeve dzakadzikira pasi pane zvakajairika uye dzimwe nguva dzakadzoserwa kumashure.

Zvimwe zvirwere zvemapfupa:

Kunze kweizvi, dzimwe shanduko mumasumbu dzinogona kuonekwa dzakadai se:

• Kufamba-famba kwemajoini.
• Rutsoka rwechikwata.
• Chipfuva chakafuratira kumberi kana kunyura mukati (Pectus excavatum/carinatum).
• Kurwara neScoliosis.
• Minwe yakakotama zvachose (`(Camptodactyly)`).
• Yakareba kupfuura maoko nemakumbo akajairwa.
• Minwe mirefu, yakatetepa (`(Arachnodactyly)`). Vamwe vanoti inotaridzika semakumbo edandemutande.

Vamwe vanhu vanogonawo kuona zviratidzo zvakaita seizvi:

• Kusashanda zvakanaka kweuropi, semuenzaniso, kuwanda kwemvura muuropi (hydrocephalus).
• Kunonoka kukura uye kuremara kwepfungwa kudiki kusvika pakati nepakati.
• Matambudziko ekugaya chikafu, semuenzaniso kuvimbiwa kana kunonoka kubuda mudumbu (Gastroparesis).
• Hernias yemudumbu kana yechiuno (`(Hernias)`).
• Kutetepa kweganda, sekunge kunoonekwa nepariri, uye mavanga ari nyore.
• Kutadza kufema zvakanaka.
• Kushaya simba kwetsandanyama (`(Hypotonia)`). Izvi zvinoreva mamiriro ezvinhu apo muviri unonzwa usina hupenyu.

Zviratidzo zvemwoyo zvisingawanzoitiki:

Izvi hazviitike kune wese munhu, asi vamwe vanhu vanogona kuva nezvirwere zvemoyo zvakaita seizvi:

• Aortic aneurysm (kushaikwa kwemadziro e aorta).
• Ropa rinoyerera richidzokera shure nekuti vharuvhu yeaortic haivharike zvakanaka (Aortic regurgitation).
• Kukura kwemudzi weaorta (`(Aortic root dilation)`).
• Ropa riri kubuda kubva muvharuvhu yemoyo (`(Mitral valve regurgitation)`).
• Kupera kwevharuvhu yeMitral (kushanda zvisirizvo kwevharuvhu yemitral yemoyo).

Chinhu chakakosha ndechekuti havasi vese varwere vane SGS vane zviratidzo izvi zvese. Vamwe vanhu vanogona kunge vaine zvishoma chete, uye kuoma kwezviratidzo kunogona kusiyana.

Shprintzen-Goldberg Syndrome (SGS) inoonekwa sei?

Kuongororwa kweSGS kunogona kuoma zvishoma. Sezvandambotaura, nekuti chirwere ichi hachiwanzoitiki uye chinogona kuvhiringidzwa neMarfan Syndrome kana Loeys-Dietz Syndrome, dzimwe nguva kuongororwa kwechirwere kunogona kunonoka.

Chiremba anoita chirwere ichi zvichibva pazviratidzo nezviratidzo. Izvi zvinoreva kunyatsoongorora chitarisiko chemuviri wemwana, kukura kwake, uye mamwe matambudziko ehutano. Dzimwe nguva kuongororwa kwemajini kunogona kusimbisa shanduko yemajini eSKI. Zvisinei, nekuda kwekuti vanhu vasina shanduko yemajini aya vanogonawo kuva neSGS, parizvino hapana mimwe miedzo chaiyo inogona kubatsira nechirwere ichi.

Shprintzen-Goldberg Syndrome (SGS) inorapwa sei?

Zvinosuwisa kuti pari zvino hapana mushonga chaiwo wechirwere ichi. Chinangwa chikuru chekurapa chirwere cheShprintzen-Goldberg ndechekugadzirisa zviratidzo uye kubatsira murwere kurarama hupenyu hwakanaka sezvinobvira.

Nzira dzekurapa dzinogona kusiyana, zvichienderana nezviratidzo zvemurwere. Heano mimwe mienzaniso:

• Kuita kuti kufamba kuve nyore nekupfeka zvinhu zvinotsigira makumbo kana musana (`(braces)`).
• Kushandisa chubhu yekudyisa, kana zvichidikanwa, kuve nechokwadi chekuti mwana anodya zvinovaka muviri zvakakwana.
• Kupa mishonga yekurapa zvirwere zvemwoyo.
• Kuvhiyiwa kunogadzirisa matambudziko emwoyo kana mapfupa ari mudehenya, musana, kana pachipfuva.
• Kana nzira yekufema yakavharwa, muromo wekuvhiya (tracheostomy) unogona kuitwa pamberi pemutsipa.

Uyewo, chiremba wako anogona kukurudzira bvunzo idzi kamwe chete pagore kana makore maviri ega ega, sezvo dzichigona kukubatsira kuona kana paine shanduko dziripo pamamiriro ako ezvinhu:

• Kuongororwa kwehuwandu hwemapfupa.
• Kuongororwa kwemoyo (Echocardiogram) kuti utarise moyo.
• Kuongororwa kwetsinga dzeropa uchishandisa magnetic resonance angiography (MRA) kana kuti computed tomography angiography (CTA).
• Tarisa kana paine shanduko dziri mumapfupa (X-rays).

Chikwata chenyanzvi chingangodiwa kurapa munhu ane chirwere cheShprintzen-Goldberg Syndrome. Chikwata ichi chinogona kusanganisira nyanzvi dzakadai se:

• Chiremba wemwoyo
• Chiremba wepfungwa (chiremba wemapfupa emusoro neapachiso)
• Nyanzvi yezvemajini
• Chiremba wepfungwa netsinga (`(Neurosurgeon)`)
• Murapi wezvemabasa - Munhu anobatsira vanhu kuita mabasa ezuva nezuva zviri nyore.
• Chiremba wemaziso - kune matambudziko ekuona (semuenzaniso myopia).
• Chiremba wemuromo - Kune matambudziko ane chekuita nemazino neshaya.
• Chiremba wemapfupa (chiremba wemapfupa, majoini nemusana)
• Chiremba wevana
• Murapi wemuviri - Munhu anobatsira kuvandudza kufamba uye mashandiro emuviri.
• Nyanzvi yezvepfungwa
• Nyanzvi yeX-ray (`(Radiologist)`) - yemifananidzo yezvokurapa.
• Nyanzvi yekutaura (`(nyanzvi yekutaura)`) - yematambudziko ekutaura.

Ndiko kubatsirwa kwevanhu ava vese uko tinogona kupa murwere kurapwa kwakanakisisa uye kutarisirwa.

Ko Shprintzen-Goldberg Syndrome (SGS) inogona kudzivirirwa here?

Parizvino hapana nzira yekudzivirira kushanduka kwemajini kunokonzera chirwere cheShprintzen-Goldberg. Izvi zvinokonzerwa nekuti chinowanzoitika zvisina tsarukano. Zvakare, masayendisiti haasati aziva kuti ndezvipi zvimwe zvinhu zvinokonzera chirwere ichi kunze kweSKI gene.

Ndeipi nguva yekurarama neShprintzen-Goldberg Syndrome (SGS)?

Kurarama kwenguva refu (kufanotaura) kwemunhu ane SGS kunoenderana nekuoma kwechirwere ichi. Muzviitiko zvine zviratidzo zvishoma, nguva yekurarama inogona kusakanganiswa zvakanyanya. Zvisinei, muzviitiko apo uropi, moyo, kana kugaya chikafu zvinokanganiswa zvakanyanya, nguva yekurarama inogona kupfupikiswa.

Chii chimwe chandinofanira kubvunza chiremba wangu nezveShprintzen-Goldberg Syndrome (SGS)?

Kana ukaona kuti mwana wako ane chirwere cheShprintzen-Goldberg, ungave nemibvunzo yakawanda. Panguva dzakadaro, zvakanaka kubvunza timu yako yezvekurapa mibvunzo yakaita seyi:

• Kuchinja kwemajini uku kwakagara nhaka here, kana kuti kwakaitika netsaona?
• Ndeapi masisitimu ari mumuviri wemwana anokonzerwa nechirwere ichi?
• Mwana wangu anoda kurapwa kupi?
• Ndezvipi zviratidzo kana zviratidzo zvinoda kurapwa nekukurumidza?
• Mwana wangu achave nekunonoka kukura kana kuti ane matambudziko epfungwa here?
• Dambudziko iri richapfupisa hupenyu hwemwana wangu here?
• Tinofanira kuona nyanzvi dzerudzii? Kangani?
• Mapfupa emwana wangu, mwoyo, mitsipa yeropa, uye uropi zvinofanira kuongororwa nguva nenguva here?
• Pane mapoka ekutsigirana anogona kutibatsira kurarama nedambudziko iri here?
• Munokurudzira mazano kana kuongororwa kwemajini here?

Kunyange hazvo chirwere cheShprintzen-Goldberg Syndrome chiri chirwere chisingawanzoitika mumajini, zvakakosha kuti uzive nezvazvo uye utsvage mazano echiremba nekukurumidza sezvinobvira. Kana uchifunga kuti mwana wako ane zviratidzo izvi, ndapota bvunza nyanzvi kuti uwane chirwere ichi nemazvo.

Chekupedzisira, yeuka izvi (Mharidzo Yekuenda Kumba)

Chirwere cheShprintzen-Goldberg (SGS) chirwere chisingawanzoitiki chemajini chinogona kukonzera shanduko pachiso chemwana, mapfupa ake, uropi hwake, uye pamwe kunyange mwoyo wake.Izvi zvinogona kugarwa nhaka, kana kuti zvinogona kuitika zvisina tsarukano.

Kunyangwe pasina mushonga, kune nzira dzakasiyana-siyana dzekurapa dziripo dzekubatsira kudzora zviratidzo. Nerutsigiro rwechikwata chenyanzvi, mwana wako anogona kurarama zvakanaka sezvinobvira. Kana uchifungidzira kuti mwana wako ane zviratidzo izvi, usatya kutaura nachiremba. Kuongororwa nekukurumidza uye kurapwa kwakakodzera kunogona kuita mutsauko mukuru. Yeuka, hausi wega. Kune mapoka ekutsigira uye zviwanikwa zviripo zvekubatsira mhuri dziri kubata nematambudziko aya.

` Shprintzen-Goldberg Syndrome, SGS, Zvirwere zveMajini, Craniosynostosis, SKI Gene, Zvisina Kunaka zveMafupa, Kunonoka Kwekukura, Zvirwere Zvisingawanzoitiki