Iyini i-Crouzon Syndrome? Singaxoxa ngayo?

Wake waba nelukuluku noma wakhathazeka ngesimo sekhanda noma sobuso bomntwana wakho? Ngezinye izikhathi, kunezimo ezenzeka lapho amathambo ekhanda lomntwana ehlangana ngokushesha kakhulu. Esinye isimo esingavamile kodwa esibalulekile okufanele usiqaphele yi-Crouzon Syndrome. Ake sixoxe ngalokhu ngendlela elula ongayiqonda.

Iyini i-Crouzon Syndrome?

Kalula nje, i-Crouzon syndrome iyisimo esingavamile sofuzo . Okwenzekayo ukuthi amalunga anemicu axhumanisa amathambo ekhanda lomntwana wakho, abizwa ngokuthi ama-suture, ahlangana ngaphambi kwesikhathi . Lapho amathambo ekhanda lomntwana ehlangana ngokushesha okukhulu, ikhanda lomntwana alinaso isikhala esanele sokukhula kahle. Odokotela bakubiza lokhu ngokuthi i-craniosynostosis. Lokhu kungabangela ikhanda nobuso bomntwana kubukeke ngendlela ehlukile. I-Crouzon syndrome ingenye nje yezinkinga eziningi ze-craniofacial ezithinta ukukhula kwekhanda nobuso bomntwana.

Ubani ongahlakulela lesi simo?

I-Crozon syndrome iyisimo sofuzo, ngakho-ke ingathinta noma ubani. Ibangelwa ushintsho (ukuguqulwa) kwezakhi zofuzo, okusho ukuthi i-gene ayisebenzi kahle. I-Crozon syndrome ingazuzwa kubazali, noma ingenzeka njengoshintsho olusha lwezakhi zofuzo.

Uma ingane yakho izuza i-Crouzon syndrome, kusho ukuthi munye kuphela umzali one-gene eshintshiwe futhi wayidlulisela enganeni. Lokhu kubizwa ngokuthi i-"autosomal dominant inheritance". Umama noma ubaba one-Crouzon syndrome unethuba elingu-50%, noma elingu-50%, lokudlulisela lesi simo enganeni yakhe. Cabanga ngakho njengethuba lokuphonsa uhlamvu lwemali bese ushaya amakhanda.

Ngezinye izikhathi, noma ngabe abazali abanalesi simo, ukuguquka kwezakhi zofuzo okungazelelwe kungenzeka eqandeni likamama noma esidodaneni sikababa ngesikhathi sokukhula komntwana, okubangela i-Crozon syndrome. Kulesi simo, akuyona into ezuzwe njengefa kubazali. Ikakhulukazi uma ubaba emdala kuneminyaka engama-40-45, kunethuba eliphakeme kancane lokuthi izinguquko ezintsha zezakhi zofuzo zenzeke emangqamuzaneni akhe esidoda.

Ivame kangakanani i-Crozon syndrome?

I-Crozon syndrome iyisimo esingavamile kakhulu . Sithinta cishe ingane eyodwa kwezingu-60,000 ezisanda kuzalwa. Kodwa-ke, i-Crozon syndrome uhlobo oluvame kakhulu lwe-craniosynostosis. I-Crozon syndrome ihlanganisa cishe u-4.8% wazo zonke izimo ze-craniosynostosis.

Ziyini izimpawu ze-Crozon syndrome?

I-Crouzon syndrome ithinta kakhulu indlela amathambo ekhanda kanye nobuso bomntwana wakho akhula ngayo. Izimpawu zomzimba zalesi simo zingase zibe mnene kakhulu kwezinye izingane, futhi zibe zimbi kakhulu kwezinye. Lezi zimpawu zifaka:

• Amehlo aqhelelene kakhulu (hypertelorism).
• Ukubonakala kwamehlo aphumayo (proptosis). Kufana nokuthi amehlo akhulisiwe.
• Amehlo aphambene (strabismus).
• Ibunzi eliphumayo.
• Impumulo incane futhi imise okwesinqe.
• Umhlathi ongezansi awukhuli kahle.
• Ngezinye izikhathi udebe oluqhekekile kanye/noma ulwanga .

Yiziphi izinkinga ezingabangelwa yilokhu?

Kanye nezinguquko zomzimba ezibangelwa yi-Crouzon syndrome, ingane yakho ingase ibhekane nezinkinga ezithile. Kubalulekile futhi ukuqaphela lezi:

• Izinkinga zokubona: Ukubona kungathinteka yindlela amehlo abekwe ngayo noma ukucindezeleka okukhulu ekhanda.
• Izinkinga zamazinyo: Ngenxa yendlela umhlathi okhula ngayo, izinkinga ngendlela amazinyo angena ngayo nendlela abekwe ngayo zingavela.
• Ukukhubazeka kokuzwa: Ukulahlekelwa ukuzwa kungenzeka ngenxa yemiphumela yezakhiwo ezingaphakathi kwendlebe.
• Ubunzima bokuphefumula: Ukushintsha kwemigudu yamakhala nomphimbo kungenza kube nzima ukuphefumula, ikakhulukazi ngesikhathi ulele.
• I-Hydrocephalus: Lesi yisimo lapho uketshezi oluzungeze ubuchopho (CSF) luqoqana khona futhi lwandise ingcindezi ngaphakathi kogebhezi.
• Akuvamile kakhulu, ukukhubazeka kwengqondo: Nakuba ukuhlakanipha kuvame ukuba yinto evamile, ezinye izingane zingase zibe nokukhubazeka kokufunda.

Yini ebangela i-Crozon syndrome?

Imbangela eyinhloko ye-Crouzon syndrome ushintsho lwezakhi zofuzo (ukuguqulwa kwezakhi zofuzo) ku-gene ebizwa ngokuthi `FGFR2` . Kalula nje, le gene `FGFR2` iyala umzimba wethu ukuthi wenze iphrotheni ekhethekile. Leyo phrotheni ibizwa ngokuthi `(fibroblast growth factor receptor)`. Umsebenzi wale phrotheni ukusiza amangqamuzana engane angakavuthwa ukuba aphenduke amangqamuzana ethambo ngenkathi esesesibelethweni.

Kodwa-ke, uma i-FGFR2 gene iba noshintsho, iphrotheni ye-FGFR2 iba namandla ngokweqile. Ngemuva kwalokho, lawo maseli angavuthiwe aqala ukuphenduka ngokushesha abe amaseli amathambo . Ngenxa yalokho, amathambo ekhanda lomntwana ahlangana ngaphambi kwesikhathi.

Itholakala kanjani i-Crozon syndrome?

Lesi simo sivame ukutholakala lapho ingane yakho izalwa, lapho odokotela behlola ingane. Udokotela uzokwenza ukuhlolwa okuphelele komzimba wengane . Ikhanda nobuso bengane kungase kube nezici ze-craniofacial ezishiwo ngenhla, okungase kubonise i-Crouzon syndrome. Udokotela uzokubuza nokuthi ngabe kukhona yini emndenini wakho oke waba nalesi simo.

Yiziphi izivivinyo ezenziwayo ukuqinisekisa ukuxilongwa?

Udokotela angenza ezinye izivivinyo eziningana ukuqinisekisa ukuthi unesifo i-Crouzon. Eziyinhloko yilezi:

• I-CT scan (i-Computed Tomography - i-CT scan): Lokhu kungathatha izithombe zezinhlaka ezihlukene zomzimba womntwana. Lokhu kusiza ukubona izinto ezifana nendlela amathambo ekhanda ahlelwe ngayo kanye nesimo sobuchopho.
• Ukuskena kwe-MRI (I-Magnetic Resonance Imaging - i-MRI scan): Lokhu kungathatha nezithombe ezinemininingwane zezitho nezicubu zomntwana. Lokhu kubalulekile ukuze kuqondwe kangcono ubuchopho nezinye izicubu ezithambile.
• Ukuhlolwa kwezakhi zofuzo zama-molecule: Lokhu kuhlolwa kwezakhi zofuzo kungabona ngokunembile ukuthi kukhona yini izinguquko ku-FGFR2 gene okukhulunywe ngayo ngaphambilini ezibangela i-Crouzon syndrome.

Iphathwa kanjani i-Crozon syndrome?

Ingane yakho izokwelashwa yithimba lodokotela kanye nezisebenzi zezempilo eziqeqeshwe ngokukhethekile ezinkingeni zekhanda . Kufana neqembu lekhilikithi. Umuntu ngamunye unemithwalo yakhe yemfanelo, kodwa wonke umuntu usebenza ndawonye ukuze athole umphumela omuhle kakhulu wengane yakho. Leli qembu lingafaka:

• Udokotela wezingane wengane yakho.
• Udokotela ohlinza izinzwa .
• Udokotela ochwepheshe ekuhlinzeni ipulasitiki (udokotela ohlinzayo wepulasitiki) .
• Uchwepheshe wamazinyo .
• Umeluleki wezakhi zofuzo .
• Isisebenzi sezenhlalakahle .
• Uchwepheshe wezindlebe, impumulo nomphimbo (udokotela we-ENT - i-otolaryngologist)
• Udokotela wezindlebe .
• Udokotela wamehlo .

Ukuhlinzwa (ukuhlinzwa)

Ukwelashwa okuyinhloko kwe-Crouzon syndrome ukuhlinzwa . Lokhu kuhlinzwa kwenziwa udokotela ohlinza izinzwa. Ukuhlinzwa kulindeleke ukuthi:

• Ukwakha isikhala esifanele sobuchopho bomntwana obusakhula .
• Ukunciphisa ingcindezi engadingekile ngaphakathi kwekhanda.
• Ukuthuthukisa ukubukeka kanye nesimo sekhanda lomntwana ngezinga elithile .

Ngezinye izikhathi kungadingeka ukuhlinzwa okungaphezu kokukodwa, kuye ngesimo somntwana.

Ukwelashwa Ngesigqoko Sokuzivikela

Nokho, akuzona zonke izingane ezidinga ukuhlinzwa . Uma ingane yakho inohlobo oluncane lwe-Crouzon syndrome, udokotela angase ancome ukwelashwa ngesigqoko sokuzivikela.Kunganconywa. Okwenzekayo kulokhu ukuthi umntwana unikezwa isigqoko sezokwelapha esiklanyelwe ngokukhethekile. Lesi sigqoko silungisa kancane kancane isimo sekhanda lomntwana ngokuhamba kwesikhathi.

Ungazilawula kanjani izimpawu?

Ngaphezu kokwelashwa, ithimba lezokwelapha lomntwana wakho lingancoma ezinye izindlela zokwelapha ezahlukahlukene ezihloselwe ukuthuthukisa ikhwalithi yokuphila komntwana wakho.

• Ukwelashwa kwengqondo: Abelaphi bezengqondo (ngokuvamile abasebenzi bezenhlalakahle) banikeza wena, ingane yakho, kanye namanye amalungu omndeni ukwesekwa kwengqondo abakudingayo. Lokho kusekelwa kubaluleke kakhulu lapho ubhekene nezinselele ezinjengalezi.
• Ukwelulekwa ngofuzo: Abeluleki ngofuzo bangaqinisekisa ukuxilongwa kwengane yakho, kanye nokukweluleka ngesimo, ukuthi yini ongayilindela esikhathini esizayo, nokuthi singathinta kanjani amanye amalungu omndeni.
• Ukwelashwa ngokomzimba: Abelaphi bomzimba basiza ukuqinisa imisipha nemisipha yengane futhi banikeze ukuvivinya umzimba ukuze kwandiswe ukuguquguquka.
• Ukwelashwa Kwemisebenzi: Abelaphi bemisebenzi basiza ukuthuthukisa amakhono engane okunyakaza okuhle (isib. ukubamba izinto ezincane), ukuqonda okubonakalayo, ukucabanga kwengqondo, kanye nokucubungula izinzwa.
• Ukwelapha ngenkulumo: Abelaphi benkulumo basiza abantu ukuba banqobe izinkinga ngenkulumo, ulimi, ukuxhumana, kanye namakhono okudla nokugwinya.

Ingabe ingozi yokuba nengane ene-Croson syndrome ingancishiswa?

Ngenxa yokuthi i-Crozon syndrome iwumphumela wokuguquka kwezakhi zofuzo okungajwayelekile, ayikho indlela yokuvimbela lesi simo ukuthi singenzeki . Singenzeka futhi ngokungahleliwe.

Into ebaluleke kakhulu ukuqonda ukuthi lokhu akuyona into oyenzile noma ongayenzanga ngaphambi noma ngesikhathi sokukhulelwa.

Kodwa-ke, uma umzali one-Croson syndrome efuna ukuvimbela ingane yakhe ukuthi ingalitholi leli gciwane, angasebenzisa ubuchwepheshe bokufaka umanyolo ngaphakathi kwe-vitro (IVF) ngokuhlolwa kombungu . Lapho, kunethuba lokukhetha imibungu enempilo bese uyifaka esibelethweni.

Uma ulindele umntwana esikhathini esizayo, ikakhulukazi uma une-Crouzon syndrome noma uma othile emndenini wakho enalesi simo , kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo. Ukuhlolwa kwezakhi zofuzo kungahlola ingozi yakho yokuba nengane enesimo sezakhi zofuzo.

Yini engingayilindela uma ingane yami ine-Crouzon syndrome?

Lizoba yini ikusasa ngengane ene-Croson syndrome?Kuncike ekutheni ukuxilongwa kwenziwa ngokushesha kangakanani nokuthi ukwelashwa kuphumelele kangakanani. Ingane yakho izodinga ukunakekelwa kwezokwelapha okusheshayo kanye nokuqapha okuqhubekayo kwezokwelapha (ukulandelwa).

Kodwa-ke, uma ukwelashwa kuqalwe kusenesikhathi, ingane yakho ingaphila impilo ejwayelekile. Nakuba kungase kube nokubambezeleka ekukhuleni, iningi labantu abane-Croson syndrome bane-IQ evamile. Ngakho-ke kubalulekile ukuhlala unethemba.

Uyini umehluko phakathi kwe-Crozon syndrome, i-Apert syndrome, kanye ne-Pfeiffer syndrome?

Kungaba yinto edidayo kancane ukuzwa la magama, kodwa kuhle ukwazi umehluko omncane phakathi kwawo.

• I-Apert Syndrome: Njenge-Crouzon syndrome, i-Apert syndrome yisimo lapho amathambo ekhanda ehlangana khona (craniosynostosis) ngenxa yokuguquka kwezakhi zofuzo ze-FGFR2. Kodwa-ke, i-Apert syndrome ivame ukuba ncane kakhulu kune-Crouzon syndrome. Ngaphezu kwezici ze-craniofacial ze-Crouzon syndrome, izingane ezine-Apert syndrome zingase zibe neminwe nezinzwane ezihlangene noma ezigobekile. Iminwe ingase ibe mifushane, kanti uzwane olukhulu nozwane olukhulu kungaba lukhulu futhi lubanzi. Ukukhubazeka kwengqondo nakho kuvame kakhulu kwi-Apert syndrome kunakwi-Crouzon syndrome.

• I-Pfeiffer Syndrome: Lesi futhi yisimo esibizwa ngokuthi i-craniosynostosis, esibangelwa ukuguquka kwezakhi zofuzo ze-FGFR2 (futhi mhlawumbe i-FGFR1). Kunezinhlobo ezintathu eziyinhloko ze-Pfeiffer syndrome, ngayinye enamazinga ahlukene obukhali. Izingane ezine-Pfeiffer syndrome nazo zinezimpawu zekhanda nobuso ze-Crouzon syndrome. Ngaphezu kwalokho, iminwe nezinzwane ezimfushane nezibanzi ziyisici esihlukile. Ezinhlotsheni 2 no-3 ze-Pfeiffer syndrome, izici zekhanda nobuso zinzima kakhulu. Izinkinga zesistimu yengqondo nezezinzwa nazo zivame kakhulu kulezi zinhlobo.

Ukuzwa ukuthi ingane yakho inesifo esingavamile sofuzo kungaba yinto exakile futhi eyesabekayo. Lokho kungokwemvelo.

Kodwa-ke, into ebaluleke kakhulu okufanele uyikhumbule ukuthi i-Crouzon syndrome ayisona isimo esisongela impilo noma esibulalayo.

Ithimba lodokotela abangochwepheshe lizosebenzisana nawe kanye nengane yakho ukuze linikeze umphumela ongcono kakhulu. Uma lesi sifo sitholakala kusenesikhathi futhi selashwa kahle, ingane yakho ingaphila impilo evamile nenempilo.

Umyalezo Wokugcina Wokuya Nasekhaya

Kulungile, ngakho-ke nazi ezinye zezinto ezibaluleke kakhulu okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-Crouzon Syndrome yisimo esingavamile sofuzo esibonakala ngokuhlangana okusheshayo kwamathambo ekhanda lomntwana.
• LokhuKungazuzwa njengefa kubazali noma kuvele ngenxa yoshintsho oluvela ku-genetic olungahleliwe.
• Izici ezithile zobuso ezifana namehlo akude, amehlo avelele, kanye nebunzi elingaphambili zingabonakala kulokhu.
• Ukuxilongwa kwenziwa ngokuhlolwa ngokomzimba, ukuskena, kanye nokuhlolwa kofuzo .
• Ukuhlinzwa kuyindlela yokwelapha eyinhloko, kodwa ngezinye izikhathi ukwelashwa ngesigqoko sokuzivikela kusetshenziswa futhi.
• Ukusekelwa yithimba lodokotela abangochwepheshe kanye nokwelashwa okuhlukahlukene kubaluleke kakhulu ekuthuthukiseni ikhwalithi yokuphila kwengane.
• Akulona iphutha lakho leli, kumane nje kungenye into.
• Ngokutholakala nokwelashwa kusenesikhathi, ingane ingaphila impilo ejwayelekile futhi ngokuvamile ihlakaniphile.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo noma ukukhathazeka, ungalokothi unqikaze ukukhuluma nodokotela.

I- Crozon syndrome, izifo zofuzo, ukhwekhwe, izifo zezingane, ukuhlinzwa, ukukhubazeka kobuso, i-FGFR2 gene