Yintoni iCrouzon Syndrome? Singathetha ngayo?

Ngaba wakha wanomdla okanye wakhathazeka malunga nokuma kwentloko okanye ubuso bomntwana wakho? Ngamanye amaxesha, kukho iimeko ezenzekayo xa amathambo ekhakhayini lomntwana edibana ngokukhawuleza. Enye imeko engaqhelekanga kodwa ebalulekileyo ekufuneka uyiqaphele yiCrouzon Syndrome. Makhe sithethe ngale nto ngendlela elula onokuyiqonda.

Yintoni iCrouzon Syndrome?

Ngamafutshane, i-Crouzon syndrome yimeko engaqhelekanga yemfuza . Okwenzekayo kukuba amalungu anee-fibrous adibanisa amathambo ekhanda lomntwana wakho, abizwa ngokuba yi-sutures, adibana ngaphambi kwexesha . Xa amathambo ekhanda edibana ngokukhawuleza, intloko yomntwana ayinandawo yaneleyo yokukhula ngokufanelekileyo. Oogqirha bayibiza le nto ngokuba yi-craniosynostosis. Oku kunokubangela ukuba intloko nobuso bomntwana bubonakale bahlukile. I-Crouzon syndrome yenye nje yeengxaki ezininzi ze-craniofacial ezichaphazela uphuhliso lwekhanda nobuso bomntwana.

Ngubani onokuhlakulela le meko?

I-Crozon syndrome yimeko yemfuza, ngoko ke inokuchaphazela nabani na. Ibangelwa lutshintsho (uguquko) kwimfuza, oko kuthetha ukuba imfuza ayisebenzi kakuhle. I-Crozon syndrome inokuzuzwa kubazali, okanye inokwenzeka njengotshintsho olutsha lwemfuza.

Ukuba umntwana wakho ufumene iCrouzon syndrome njengelifa, oko kuthetha ukuba mnye kuphela umzali one-gene etshintshileyo waza wayidlulisela kumntwana. Oku kubizwa ngokuba yi-"autosomal dominant inheritance". Nokuba ngumama okanye utata oneCrouzon syndrome unethuba elingama-50%, okanye ama-50%, lokudlulisela esi sifo kumntwana wakhe. Cinga ngayo njengethuba lokuphosa ingqekembe uze ufumane iintloko.

Ngamanye amaxesha, nokuba abazali abanale meko, utshintsho oluzenzekelayo lwezakhi zofuzo lunokwenzeka kwiqanda likamama okanye kwisidoda sikatata ngexesha lokukhula komntwana, nto leyo ebangela isifo seCrozon. Kwimeko enjalo, asiyonto ezuzwe njengelifa kubazali. Ingakumbi ukuba utata uneminyaka engaphezu kwama-40-45 ubudala, kukho ithuba eliphezulu kancinci lotshintsho olutsha lwezakhi zofuzo kwiiseli zesidoda sakhe.

Ixhaphake kangakanani iCrozon syndrome?

I-Crozon syndrome yimeko engaqhelekanga kakhulu . Ichaphazela malunga nenye kwiintsana ezingama-60,000 ezisandula ukuzalwa. Nangona kunjalo, i-Crozon syndrome lolona hlobo luqhelekileyo lwe-craniosynostosis. I-Crozon syndrome ibandakanya malunga ne-4.8% yazo zonke iimeko ze-craniosynostosis.

Zithini iimpawu zeCrozon syndrome?

I-Crouzon syndrome ichaphazela kakhulu indlela akhula ngayo amathambo entloko kunye nobuso bomntwana wakho (amathambo e-craniofacial). Iimpawu zomzimba zale meko zinokuba buthathaka kakhulu kwezinye iintsana, kwaye zibe buhlungu ngakumbi kwezinye. Ezi mpawu ziquka:

• Amehlo abekwe kude kakhulu (hypertelorism).
• Inkangeleko yamehlo ephumayo (proptosis). Kufana nokuba amehlo akhulisiwe.
• Amehlo anqamlezileyo (strabismus).
• Ibunzi eliphumayo.
• Impumlo incinci kwaye imile okwesinqe.
• Umhlathi ongezantsi awukhuli kakuhle.
• Ngamanye amaxesha umlomo oqhekekileyo kunye/okanye incasa .

Zeziphi iingxaki ezinokubangela oku?

Kunye notshintsho olubangelwa yiCrouzon syndrome, umntwana wakho unokufumana iingxaki ezithile. Kubalulekile nokuzazi ezi:

• Iingxaki zokubona: Ukubona kunokuchaphazeleka yindlela amehlo abekwe ngayo okanye kukunyuka koxinzelelo ekhakhayini.
• Iingxaki zamazinyo: Ngenxa yendlela umhlathi okhula ngayo, iingxaki ngendlela amazinyo angena ngayo nendlela abekwe ngayo zinokubakho.
• Ukuphazamiseka kokuva: Ukulahlekelwa kukuva kunokwenzeka ngenxa yeziphumo zezakhiwo ezingaphakathi kwendlebe.
• Ubunzima bokuphefumla: Utshintsho kwimibhobho yempumlo nomqala lunokwenza kube nzima ukuphefumla, ingakumbi xa ulele.
• I-Hydrocephalus: Le yimeko apho ulwelo olujikeleze ubuchopho (CSF) luqokelelana khona kwaye lonyusa uxinzelelo ngaphakathi kwentloko.
• Amaxesha amaninzi, ukukhubazeka kwengqondo: Nangona ubukrelekrele buqhelekile, abanye abantwana banokuba nokukhubazeka kokufunda.

Yintoni ebangela iCrozon syndrome?

Eyona nto ibangela iCrouzon syndrome kukutshintsha kwezakhi zofuzo (uguquko) kwizakhi zofuzo ezibizwa ngokuba yi-`FGFR2` . Ngamafutshane, le `FGFR2` gene iyalela imizimba yethu ukuba yenze iproteni ekhethekileyo. Loo protein ibizwa ngokuba yi-`(fibroblast growth factor receptor)`. Umsebenzi wale protein kukunceda iiseli zomntwana ezingakhuliyo zijike zibe ziiseli zamathambo ngelixa zisesesibelekweni.

Nangona kunjalo, xa i-FGFR2 gene itshintsha, iproteni ye-FGFR2 iba yinto esebenzayo kakhulu. Emva koko, ezo seli zingavuthwanga ziqala ngokukhawuleza ukujika zibe ziiseli zamathambo . Ngenxa yoko, amathambo ekhanda lomntwana adibana ngaphambi kwexesha.

Ifunyanwa njani iCrozon syndrome?

Esi simo sidla ngokufunyaniswa xa umntwana wakho ezelwe, xa oogqirha bemxilonga umntwana. Ugqirha uya kwenza uvavanyo olupheleleyo lomntwana . Intloko nobuso bomntwana bunokuba neempawu zentloko ezikhankanyiweyo apha ngasentla, ezinokuthi zibonise ukuba une-Crouzon syndrome. Ugqirha uya kukubuza ukuba kukho umntu kusapho lwakho okhe waba nale meko.

Zeziphi iimvavanyo ezenziwayo ukuqinisekisa ukuxilongwa?

Ugqirha angenza ezinye iimvavanyo ezininzi ukuqinisekisa ukuba unayo i-Crouzon syndrome. Ezona ziphambili zezi:

• I-CT scan (i-Computed Tomography - i-CT scan): Oku kungathatha imifanekiso yezakhiwo ezingaphakathi emzimbeni womntwana. Oku kunceda ukubona izinto ezifana nendlela amathambo ekhakhayi ahlelwe ngayo kunye nemeko yengqondo.
• I-MRI scan (Magnetic Resonance Imaging - MRI scan): Oku kungathatha nemifanekiso eneenkcukacha ezithe kratya yamalungu omzimba kunye nezicubu zomntwana. Oku kubalulekile ukuze kuqondwe ngcono ingqondo kunye nezinye izicubu ezithambileyo.
• Uvavanyo lwemfuza yemolekyuli: Olu vavanyo lwemfuza lunokufumanisa ngokuchanekileyo ukuba kukho utshintsho kwimfuza ye-FGFR2 ekhankanyiweyo ngaphambili olubangela i-Crouzon syndrome.

Inyangwa njani iCrozon syndrome?

Umntwana wakho uza kunyangwa liqela loogqirha kunye nabasebenzi bezempilo abaqeqeshwe ngokukodwa kwiingxaki zentloko . Kufana neqela lekhilikithi. Umntu ngamnye unoxanduva lwakhe, kodwa wonke umntu usebenzisana ukuze afumane iziphumo ezilungileyo kumntwana wakho. Eli qela lingabandakanya:

• Ugqirha wezingane womntwana wakho.
• Ugqirha wezifo zengqondo .
• Ugqirha ochwephesha kutyando lweplastiki (ugqirha weplastiki) .
• Ingcali yamazinyo .
• Umcebisi ngezemfuza .
• Umsebenzi wentlalontle .
• Ingcali yendlebe, impumlo nomqala (ugqirha we-ENT - i-otolaryngologist)
• Ingcali ye-audiologist .
• Ingcali yamehlo .

Utyando (utyando)

Unyango oluphambili lwe-Crouzon syndrome lutyando . Olu tyando lwenziwa ngugqirha wemithambo-luvo. Utyando kulindeleke ukuba:

• Ukwakha indawo efanelekileyo yengqondo yomntwana esakhulayo .
• Ukunciphisa uxinzelelo olungeyomfuneko ngaphakathi kwekhakayi.
• Ukuphucula inkangeleko kunye nokuma kwentloko yomntwana ukuya kuthi ga kwinqanaba elithile .

Ngamanye amaxesha kunokufuneka utyando olungaphezulu kolunye, kuxhomekeke kwimeko yomntwana.

Unyango lweNgqoko

Nangona kunjalo, ayingabo bonke abantwana abadinga utyando . Ukuba umntwana wakho une-Crouzon syndrome engephi, ugqirha unokucebisa unyango lwe-helmet.Kungacetyiswa. Okwenzekayo koku kukuba umntwana unikwa isigcina-ntloko sezonyango esenzelwe ngokukodwa. Esi sigcina-ntloko silungisa kancinci kancinci imo yentloko yomntwana ngokuhamba kwexesha.

Ungazilawula njani iimpawu?

Ukongeza kunyango, iqela lezonyango lomntwana wakho linokucebisa ezinye iindlela zonyango ezenzelwe ukuphucula umgangatho wobomi bomntwana wakho.

• Unyango lwezengqondo: Iingcali zengqondo (ezidla ngokuba ngabasebenzi bezentlalo) zibonelela wena, umntwana wakho, kunye namanye amalungu osapho ngenkxaso yengqondo abayidingayo. Loo nkxaso ibaluleke kakhulu xa ujongene nemingeni efana nale.
• Ingcebiso ngezofuzo: Abacebisi ngezofuzo banokuqinisekisa ukuba umntwana wakho unesifo, kunye nokukunika iingcebiso ngemeko leyo, into omawuyilindele kwixesha elizayo, kunye nendlela enokuthi ichaphazele ngayo amanye amalungu osapho.
• Unyango lomzimba: Iingcali zonyango lomzimba zinceda ukuqinisa izihlunu zomntwana kunye nemisipha kwaye zibonelela ngemithambo yomzimba yokwandisa ukuguquguquka.
• Unyango lomsebenzi: Iingcali zonyango lomsebenzi zinceda ekuphuhliseni izakhono zomntwana zokunyakaza (umz., ukubamba izinto ezincinci), ukuqonda okubonakalayo, ukuqiqa kwengqondo, kunye nokusebenza kweemvakalelo.
• Unyango lokuthetha: Iingcali zonyango lwentetho zinceda abantu ukuba boyise iingxaki ngezakhono zokuthetha, ulwimi, unxibelelwano, kunye nezokutya nokuginya.

Ngaba umngcipheko wokuba nomntwana one-Croson syndrome ungancitshiswa?

Ngenxa yokuba iCrozon syndrome sisiphumo sotshintsho olungaqhelekanga lwemfuza, akukho ndlela yokuthintela ukuba esi sifo singenzeki . Sinokwenzeka nangokungacwangciswanga.

Eyona nto ibalulekileyo kukuqonda ukuba le asiyonto oyenzileyo okanye ongazange uyenze ngaphambi okanye ngexesha lokukhulelwa.

Nangona kunjalo, ukuba umzali one-Croson syndrome ufuna ukuthintela umntwana wakhe ukuba angalifumani eli gciwane, angasebenzisa iteknoloji yokuchumisa umntwana kwi-vitro (IVF) kunye novavanyo lwe-embryo . Apho, kukho ithuba lokukhetha ii-embryos eziphilileyo kunye nokuzifaka esibelekweni.

Ukuba ulindele umntwana kwixesha elizayo, ingakumbi ukuba une-Crouzon syndrome okanye ukuba kukho umntu kusapho lwakho onayo le meko , kulungile ukuthetha nogqirha wakho malunga novavanyo lwemfuza. Uvavanyo lwemfuza lunokuvavanya umngcipheko wokuba nomntwana onemeko yemfuza.

Yintoni endinokuyilindela ukuba umntwana wam une-Crouzon syndrome?

Liza kuba njani ikamva lomntwana one-Croson syndrome?Kuxhomekeke ekubeni ukuxilongwa kwenziwa ngokukhawuleza kangakanani kwaye unyango luphumelele kangakanani. Umntwana wakho uya kufuna unyango olukhawulezileyo kunye nokuhlolwa rhoqo kwezonyango (ukulandelela).

Nangona kunjalo, ukuba unyango luqalwe kwangethuba, umntwana wakho angaphila ubomi obuqhelekileyo. Nangona kunokubakho ukulibaziseka ekukhuleni, uninzi lwabantu abane-Croson syndrome bane-IQ eqhelekileyo. Ngoko ke kubalulekile ukuhlala unethemba.

Yintoni umahluko phakathi kweCrozon syndrome, i-Apert syndrome, kunye nePfeiffer syndrome?

Kunokuba yinto edidayo kancinci ukuva la magama, kodwa kulungile ukwazi umahluko ocacileyo phakathi kwawo.

• I-Apert Syndrome: Njenge-Crouzon syndrome, i-Apert syndrome yimeko apho amathambo ekhakhayi edibana khona (craniosynostosis) ngenxa yokuguquka kwe-gene ye-FGFR2. Nangona kunjalo, i-Apert syndrome idla ngokuba buthathaka kakhulu kune-Crouzon syndrome. Ukongeza kwiimpawu ze-craniofacial ze-Crouzon syndrome, iintsana ezine-Apert syndrome zinokuba neminwe kunye neenzwane ezidibeneyo okanye ezifakwe iwebhu. Iminwe nazo zinokuba mfutshane, kwaye uzwane olukhulu kunye nozwane olukhulu lunokuba lukhulu kwaye lubanzi. Ukukhubazeka kwengqondo kukwaxhaphake kakhulu kwi-Apert syndrome kunakwi-Crouzon syndrome.

• I-Pfeiffer Syndrome: Le yimeko ebizwa ngokuba yi-craniosynostosis, ebangelwa kukuguquka kwejini ye-FGFR2 (kwaye mhlawumbi i-FGFR1). Kukho iintlobo ezintathu eziphambili ze-Pfeiffer syndrome, nganye inamanqanaba ahlukeneyo obunzima. Iintsana ezine-Pfeiffer syndrome nazo zineempawu zentloko nobuso ze-Crouzon syndrome. Ukongeza, iminwe emifutshane, ebanzi kunye neenzwane zizinto ezahlukileyo. Kwiintlobo zesi-2 kunye nesi-3 ze-Pfeiffer syndrome, iimpawu zentloko nobuso zinzima ngakumbi. Iingxaki zenkqubo yengqondo nezemithambo-luvo nazo zixhaphake kakhulu kwezi ntlobo.

Ukuva ukuba umntwana wakho unesimo esingaqhelekanga semfuza kunokuba yinto eyoyikisayo neyoyikisayo. Yinto eqhelekileyo leyo.

Nangona kunjalo, eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba i-Crouzon syndrome ayisosifo esisongela ubomi okanye esibulalayo.

Iqela loogqirha abaziingcali liza kusebenzisana nawe nomntwana wakho ukuze kubekho iziphumo ezilungileyo kangangoko. Ukuba isifo sichongiwe kwangethuba kwaye sinyangwa ngokufanelekileyo, umntwana wakho ngokuqinisekileyo angaphila ubomi obuqhelekileyo nobunempilo.

Umyalezo Wokugqibela Wokuya Ekhaya

Kulungile, nazi ezinye zezinto ezibalulekileyo ekufuneka uzikhumbule koko sithethe ngako:

• I-Crouzon Syndrome yimeko engaqhelekanga yemfuza ebonakaliswa kukudibana ngokukhawuleza kwamathambo ekhanda lomntwana.
• OkuIngafunyanwa ngabazali okanye ivele kutshintsho olungalindelekanga lwemfuza.
• Iimpawu ezithile zobuso ezifana namehlo akude, amehlo avele ngaphandle, kunye nebunzi elingaphambili zinokubonakala apha.
• Uxilongo lwenziwa ngokuhlolwa ngokwasemzimbeni, ukuskena, kunye novavanyo lwemfuza .
• Utyando lolona nyango luphambili, kodwa ngamanye amaxesha unyango lwe-helmet luyasetyenziswa.
• Inkxaso yeqela loogqirha abaziingcali kunye nonyango olwahlukeneyo lonyango ibaluleke kakhulu ukuphucula umgangatho wobomi bomntwana.
• Asikuko oku okubangela ingxaki, yinto nje eyahlukileyo.
• Ngokufunyaniswa kwangethuba kunye nonyango, umntwana unokuphila ubomi obuqhelekileyo kwaye rhoqo enobukrelekrele obuqhelekileyo.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo okanye izinto ezikuxhalabisayo, ungaze ungathandabuzi ukuthetha nogqirha.

Isifo sikaCrozon , izifo zemfuza, ukhwekhwe, izifo zabantwana, utyando, ukukhubazeka kobuso, i-FGFR2 gene