Iyini i-Apert Syndrome? Ingabe ingane yakho inalezi zimpawu? Ake sixoxe!

Uke waphawula yini izici ezingavamile ekhanda, ebusweni, noma ezithweni zomntwana wakho osanda kuzalwa? Ngezinye izikhathi, njengabazali, siyakhathazeka kancane uma sibona lezi zinto, akunjalo? Kuvamile kakhulu. Namuhla, sizokhuluma nge- Apert syndrome , isimo esingavamile esingathinta izingane ezizalwa nezinye zalezi zinguquko zomzimba. Ungakhathazeki, ake sichaze konke ngamagama alula.

Iyini ngempela i-Apert Syndrome?

Kalula nje, i-Apert syndrome yisimo esingavamile lapho amalunga aphakathi kwamathambo ekhanda lomntwana wakho, noma lokho esikubiza ngokuthi 'ama-suture', ehlangana khona ngaphambi kokuba akhule . Odokotela bakubiza lokhu ngokuthi i-craniosynostosis . Lapho ama-suture evala ngokushesha kakhulu, ikhanda alinaso isikhala esanele sokukhula njengoba ubuchopho bomntwana bukhula. Lokhu kungabangela izinguquko hhayi nje kuphela esimweni sekhanda, kodwa nasezintweni ezifana namathambo obuso, iminwe, nezinzwane.

Cabanga ngakho njengomuthi omncane okhula emgodini osemhlabathini, futhi awukwazi ukukhula ngokukhululeka. Lesi yisimo sofuzo , okusho ukuthi sibangelwa ushintsho lwezakhi zofuzo. Ngezinye izikhathi singazuzwa njengesici 'esiphezulu se-autosomal' . Lokhu kusho ukuthi uma umzali oyedwa enoshintsho lwezakhi zofuzo, kunethuba elingu-50% lokuthi ingane yakhe nayo izoba nalesi simo.

Ubani othinteka yi-Apert Syndrome?

I-Apert syndrome iyisimo esingavamile kakhulu. Ivame ukubangelwa ukuguquka kwezakhi zofuzo okwenzeka ekuqaleni kokukhulelwa. Lokhu kuguquka kungenziwa kubazali noma kungenzeka kube yinto entsha. Into ebalulekile ukuqonda ukuthi lokhu akuyona into eyenziwa ngumama ngesikhathi ekhulelwe, futhi akuyona into eyenzeka kuye. Ngakho ungazibeki icala.

Kuvamile kangakanani lokhu?

Lokhu empeleni kuyinto engavamile kakhulu. Ngokwezibalo, cishe ingane eyodwa kuphela kwezingu-65,000 ezizalwayo ine-Apert syndrome. Ngakho-ke ungabona ukuthi lesi simo singavamile kangakanani.

Yiziphi izimpawu zengane ene-Apert Syndrome?

Ngenxa yokuthi imithungo esekhanda lomntwana ivaleka ngaphambi kwesikhathi, okuyisimo esibizwa ngokuthi i-craniosynostosis, umntwana angaba nezici ezithile ezihlukile. Lezi zici zingase zihluke kancane kumntwana ngamunye. Izici eziyinhloko ezingabonakala yilezi:

• Ugebhezi:
• Ikhanda lomntwana lingase libonakale lide kunokujwayelekile, linesihloko esicijile (lokhu kubizwa ngokuthi i-acrocephaly) .
• Ingemuva lekhanda lingase libe yisicaba.
• Ibunzi lingabonakala liphezulu noma libanzi.
• 'Indawo ethambile' noma 'i-follicle' ekhanda lomntwana ingase ibambezeleke lapho ivalwa.
• Amehlo:
• Amehlo angase aqhelelane kakhulu ebusweni kunokujwayelekile.
• Amehlo angase abonakale evuvukele noma ebheke phansi.
• Ubuso:
• Impumulo ingaba yisicaba noma ibe njengomlomo.
• Kungase kube nomlomo oqhekekile .
• Ubuso bungase bubonakale bungafani nhlangothi zombili.
• Izandla nezinyawo:
• Iminwe ingaba mifushane kanti uzwane olukhulu lungaba banzi.
• Iminwe noma izinzwane zingase zihlanganiswe ndawonye noma zixhunywe yisikhumba (lokhu kubizwa ngokuthi i-syndactyly) , njenge-swimming web.

Khumbula, akuzona zonke izingane ezizoba nazo zonke lezi zimpawu. Udokotela nguyena ongakwazi ukubona lezi zimpawu ngokunembile futhi athole ukuthi ziyini.

I-Apert Syndrome iwuthinta kanjani umzimba wengane?

Lesi simo asigcini nje ngokubangela izinguquko ekubukekeni komntwana, kodwa singathinta nezinye izitho zomzimba.

• Ubuchopho: Njengoba ugebhezi luvala ngokushesha, ingcindezi inganqwabelana ebuchosheni. Lokhu kungathinta amakhono okufunda nokucabanga engane ( ukukhula kwengqondo ). Ukukhubazeka kwengqondo okuncane kuya kokuphakathi nakho kungase kwenzeke.
• Izindlebe: Ngokuvamile, amathambo ohlangothini ngalunye lwekhanda lomntwana yiwona aqala ukuvala. Lokhu kungathinta indlela izindlebe ezikhula ngayo, okuholela ekuthelelekeni kwezindlebe njalo noma ekulahlekelweni kokuzwa.
• Amehlo: Izinkinga zokubona zingabangelwa amehlo avele, athambekile, noma aqhelelene.
• Amaphaphu: Kuye ngokuthi isimo sibucayi kangakanani, ukuma kwekhala kungabangela ubunzima bokuphefumula noma i-sleep apnea ( ukuminyana ngenxa yokuvaleka kwendlela yokuphefumula ngesikhathi sokulala).
• Isikhumba: Isikhumba sengane yakho singase sikhiqize uwoyela owengeziwe, okungaholela ezinhlungwini ezinkulu. Ungase futhi uqaphele ukujuluka ngokweqile ( i-hyperhidrosis ) kanye nokulahlekelwa izinwele kwezinye izindawo (isibonelo, ngaphansi kwamashiya).
• Amazinyo: Uma umntwana eqala ukubola amazinyo, isikhala asibi sikhulu emlonyeni futhi amazinyo angase agcwale kakhulu. Lokhu kungabangela izinkinga zamazinyo. Amanye amazinyo angase angabi khona futhi kungase kube nokungahambi kahle kwe-enamel yamazinyo.

Yini ebangela i-Apert Syndrome?

Isizathu esiyinhloko salokhu yi- FGFR2 (i-Fibroblast growth factor receptor-2).Uguquko ku-gene olubizwa ngokuthi i-fibroblast growth factor. Le gene ibangela kakhulu ukuthuthukiswa kwesistimu yamathambo emizimbeni yethu. Uma le gene iguquguquka, lawa ma-receptor awaxhumani kahle nezimpawu ezibizwa ngokuthi 'i-fibroblast growth factors'. Ngenxa yalokho, amalunga (ama-suture) phakathi kwamathambo avaleka ngokushesha ngesikhathi sokukhulelwa. Ngisho noma la ma-suture evaleka ngokushesha, ubuchopho bomntwana buyaqhubeka nokukhula. Ngemuva kwalokho amathambo ekhanda, ikakhulukazi amathambo ebunzini nasezinhlangothini zekhanda, akha ngendlela engavamile. Ukwakheka okungajwayelekile kwala mathambo yikho okubangela ukukhubazeka okuhlukahlukene emzimbeni.

I-Apert Syndrome ihlolwa kanjani?

Esikhathini esiningi, lesi simo sitholakala ngemva kokuzalwa komntwana. Kodwa-ke, ngezinye izikhathi singatholakala kusenesikhathi ngesikhathi sokukhulelwa, ngokubheka ukukhula kwethambo lomntwana nge -2D noma i-3D ultrasound noma i-MRI scan .

Ngemva kokuzalwa komntwana, udokotela uzokwenza ukuhlolwa okuphelele ngokomzimba ukuze ahlole noma yikuphi ukukhubazeka emzimbeni womntwana. Ngemuva kwalokho, kuzokwenziwa izivivinyo zezithombe , njenge -CT scan noma i-MRI , ukuqinisekisa la maphutha okuzalwa nawo.

Udokotela uzophinde ancome ukuhlolwa kwezakhi zofuzo . Lokhu kuzohlola ukuguquka kwezakhi zofuzo ze-FGFR2 okukhulunywe ngazo ngaphambili. Lokhu kuzoqinisekisa ngokwengeziwe ukuxilongwa. Konke ukuhlolwa okuvamile kwezingane ezisanda kuzalwa kuzokwenziwa kulo mntwana. Ikakhulukazi, njengoba lesi simo singabangela ukulahlekelwa ukuzwa, kuzonakwa ngokukhethekile ukuhlolwa kokuzwa .

Iphathwa kanjani i-Apert Syndrome?

Izinketho zokwelapha zincike ebunzimeni besimo somntwana wakho. Ezimweni eziningi, ukuhlinzwa kuyindlela eyinhloko yokwelapha ukunciphisa izimpawu.

• Uma kunezimpawu zezinkinga ezithinta ugebhezi noma ubuchopho (i-craniosynostosis noma i-hydrocephalus - ukunqwabelana koketshezi ebuchosheni): Phakathi kwezinyanga ezimbili kuya kwezine ngemva kokuzalwa, kungenziwa ukuhlinzwa ukuze kususwe uketshezi oluqongeleleke ebuchosheni bese kufakwa ipayipi elincane ( i-shunt ) ukuze kuncishiswe ingcindezi.
• Ukuhlinzwa okwakha kabusha noma okulungisayo:
• Ukuhlinzwa kokulungisa amehlo.
• Ukuhlinzwa kokwakhiwa kabusha kwamathambo omhlathi ( i-osteotomy ).
• Ukuhlinzwa kwepulasitiki kwesilevu ( genioplasty ).
• Ukuhlinzwa kwepulasitiki kwekhala ( i-rhinoplasty ).
• Ukuhlinzwa kokuhlukanisa iminwe nezinzwane ezihlanganiswe ndawonye.
• Ukuhlinzwa ukulungisa ukuma kogebhezi ( cranioplasty ).

Ingabe zikhona ezinye izindlela zokwelapha zokunciphisa imiphumela emibi?

Yebo, impela. Ingane yakho ingafinyelela amandla ayo aphelele uma uqala ukwelashwa okudingekayo ngokushesha okukhulu, njengoba kunconywe udokotela wakho. Ukwelashwa okufana nalokhu kufaka phakathi:

• Izinsiza zokuzwa uma unenkinga yokuzwa.
• Uma unenkinga yokuphefumula ngenxa yokuvaleka komoya, ungadinga umshini wokuphefumula noma olunye ukwelashwa .
• Ukuhlelwa kwama-aphoyintimenti nabelaphi abahlukahlukene. Isibonelo, ukwelashwa ngokomzimba , ukwelashwa ngokomsebenzi, kanye nokwelashwa ngenkulumo .
• Ukunakekela ngokukhethekile umlomo namazinyo engane.
• Ukuhlolwa njalo kombono ngenxa yezinkinga zamehlo.

Ingabe i-Apert Syndrome ingelapheka ngokuphelele?

Ngeshwa, okwamanje akukho ukwelashwa kwe-Apert syndrome. Kodwa-ke, ukuhlinzwa kunganciphisa kakhulu izimpawu futhi kusize ingane iphile impilo evamile.

Ingabe kukhona engingakwenza ukuze nginciphise ingozi yengane yami yokuthola i-Apert Syndrome?

Ngenxa yokuthi i-Apert syndrome iyisimo sofuzo, akukho lutho abazali abangakwenza ukuvimbela ukuthi singenzeki ngesikhathi sokukhulelwa. Kodwa-ke, uma uhlela ukuba nomntwana, ungabonana nodokotela ukuze akunike iseluleko sofuzo ukuze ubone ukuthi usengozini yokudlulisela lesi simo enganeni yakho. Ukwelulekwa ngofuzo kungakusiza uqonde amathuba okuba nomntwana onalesi simo esikhathini esizayo futhi unikeze ukwesekwa kubazali abasha.

Yini okufanele ngiyilindele uma ingane yami ine-Apert Syndrome?

I-Apert syndrome iyisimo esihlala isikhathi eside futhi ayikho ikhambi. Ingane ivame ukudinga ukuhlinzwa ukuze kuncishiswe ingcindezi ebuchosheni lapho izalwa, kulandelwe ukuhlinzwa okuningana okwakha kabusha. Kubalulekile ukulandelelana eduze nochwepheshe abahlukahlukene.

Kodwa-ke, ngokuhlinzwa nokwelashwa okuqhubekayo, izingane ezizalwa zine-Apert syndrome zingaphila impilo evamile. Kufanele zihlale zixhumana nodokotela wazo njalo ukuze zixoxe nganoma yiziphi izinkinga ezingase zibe nazo njengoba zikhula. Njengoba ingane yakho ikhula, kufanele ihlolwe umbono wayo, amazinyo, kanye nokuzwa njalo. Ngezinye izikhathi, kungase kudingeke ukuhlinzwa okwengeziwe ukuze kwelashwe izimpawu eziqhubekayo.

Kufanele ngimbone nini udokotela wami?

Uma ubona noma yiziphi zalezi zimpawu enganeni yakho, xhumana nodokotela ngokushesha:

• Uma unenkinga yokuphefumula .
• Uma unezifo zendlebe ezivame ukwenzeka noma unenkinga yokulalela imiyalo elula.
• Iminyaka efaneleUma izinyathelo zentuthuko zingafinyelelwanga.
• Uma indawo yokuhlinzwa inegciwane (elibomvu, elivuvukele, elifana nobomvu).

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Xoxa nganoma yimiphi imibuzo noma ukukhathazeka onakho nodokotela wakho. Isibonelo, ungase ubuze imibuzo efana nale:

• Yikuphi ukwelashwa okuncomayo ukuze kutholakale ukuthi ingane yami inesifo?
• Ziyini izingozi zokuhlinzwa?
• Ingabe ukuma kwekhanda lomntwana wami kuyayithinta indlela afunda ngayo?
• Uma nginenye ingane, ingabe kukhona ithuba lokuthi leyo ngane nayo izoba ne-Apert syndrome?

Yiziphi ezinye izimo ezifana ne-Apert Syndrome?

Ezinye zezimpawu ze-Apert syndrome zingase zifane nezinye izimo ezibangelwa ukuhlangana okusheshayo kwamathambo ekhanda ngesikhathi sokukhula kwengane (craniosynostosis). Ezinye zalezi zimo zifaka:

• I-Carpenter syndrome: Njenge-Apert syndrome, lesi yisimo lapho ugebhezi lomntwana luhlangana khona ngaphambi kwesikhathi, okubangela ukukhubazeka kogebhezi. Kungabangela futhi i-syndactyly (iminwe nezinzwane ezihlangene). Umehluko ukuthi i-Carpenter syndrome yenzeka lapho bobabili abazali bedlulisela i-gene enganeni (i-autosomal recessive).
• I-Crouzon syndrome: Lokhu futhi kubangela ukukhubazeka kobuso ngenxa yokuhlangana kogebhezi lomntwana ngokushesha okukhulu.
• I-Pfeiffer syndrome: Kulesi simo, kanye nokukhubazeka kwekhanda nobuso, izinzwane ezinkulu nezinzwane ezinkulu zingaba zibanzi kunezinye izinzwane futhi zingase zigobe kude nezinye izinzwane.
• I-Saethre-Chotzen syndrome: Lesi yisimo lapho amathambo ekhanda ehlangana khona ngaphambi kwesikhathi, okuholela ezicini zobuso ezingalingani, ezingalingani.

Uyini umehluko phakathi kwe-Apert Syndrome ne-Crouzon Syndrome?

I-Apert syndrome kanye ne-Crouzon syndrome zinezici ezifanayo. Zombili zibangelwa ukuvalwa kwamalunga ekhanda ngaphambi kwesikhathi ngesikhathi sokukhula kwengane. Kuzo zombili izimo, ukhakhayi lungakheka ngendlela engavamile, futhi ubuso bungase bubonakale bucwile (i-midface hypoplasia). Nokho, umehluko omkhulu ukuthi ku-Apert syndrome, ezinye izingxenye zomzimba ziyathinteka ngaphezu kokhakhayi, ikakhulukazi i-syndactyly, okuyisimo lapho iminwe nezinzwane zihlanganiswa khona. Ku-Crouzon syndrome, ukuma kokhakhayi kuthinteka kakhulu.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Apert syndrome yisimo sofuzo esingabangela izinguquko ekubukekeni komntwana kanye neminye imisebenzi yomzimba wakhe. Nakuba kungekho ikhambi, ukuhlinzwa kanye nokwelashwa okuhlukahlukene kungasiza ekulawuleni izimpawu futhi kusize umntwana aphile impilo evamile futhi egcwele ngangokunokwenzeka.

Uma othile emndenini wakho ene-Apert syndrome futhi ulindele umntwana, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo . Lokhu kuzokunikeza ulwazi nesiqondiso osidingayo.

Into ebaluleke kakhulu ukwazi ukuthi awuwedwa. Ungathola ukwesekwa kodokotela, abeluleki, kanye nabazali bezingane ezinezimo ezifanayo. Ungesabi ukukhuluma nodokotela wakho ngakho konke okusengqondweni yakho.

I- Apert Syndrome, i-Apert Syndrome, Izifo Zofuzo, Ukukhubazeka Kwekhanda, Ukukhubazeka Kwezitho, Impilo Yengane, i-Craniosynostosis