Ingabe ingane yakho encane inalezi zinguquko ebusweni bayo? Ake sixoxe nge-Van der Woude Syndrome!

Ingabe ingane yakho inamaqhubu amancane endebeni yayo engezansi? Noma ingabe inomlomo oqhekekile noma ulwanga? Ngezinye izikhathi ungabona ngisho nezinyo elilahlekile? Kujwayelekile kakhulu kuwe, njengomama noma ubaba, ukuzizwa wesaba kakhulu futhi ukhathazekile uma ubona lezi zinto. Kodwa ungakhathazeki. Namuhla sizoxoxa ngokuningiliziwe ngokuthi yini ebangela lezi zinto nokuthi yini engenziwa ngazo. Uma usuqaphele lokhu, uzozizwa ukhululekile kakhulu.

Iyini i-Van der Woude Syndrome?

Kalula nje, i-Van der Woude Syndrome iyisimo esingavamile, esizuzwe njengefa esithinta indlela umlomo wengane okhula ngayo ngesikhathi isesesibelethweni. Izingane ezinalesi simo zinezimbobo ezincane (izimbobo zezindebe) ezindebeni zazo ezingezansi. Ngezinye izikhathi lezi zimbobo zingase ziphakame kancane. Zingase zibe nomlomo oqhekekile, ulwelwesi oluqhekekile, noma kokubili. Ezinye izingane zingase zibe namazinyo athile angakakhuli.

Odokotela ngezinye izikhathi babiza lesi simo ngokuthi “i-lip pit syndrome.” Saqala ukuchazwa udokotela waseFrance u-J. Demarquay cishe ngo-1845. Kodwa-ke, sanikezwa igama elithi “Vander Woude” ukuhlonipha uDkt. Anne Van der Woude, owasifunda kabanzi ekuqaleni kwawo-1950.

Kuyini i-Cleft Lip kanye ne-Cleft Palate?

Ake sikuqonde lokhu. I-Cleft lip kanye ne-cleft palate yizinkinga zokuzalwa ezenzeka ngesikhathi sokukhula komntwana esibelethweni. Ingane ingaba nanoma iyiphi yalezi zimo noma zombili.

• I-Cleft Lip: Lokhu kwenzeka lapho izinhlangothi ezimbili zodebe olungaphezulu lwengane yakho zingahlangani kahle. Lokhu kungabangela isikhala esincane noma ukuqhekeka kodebe oluphezulu. Lokhu kungathinta nezinsini.
• Umlomo Oqhekekile: Lokhu kwenzeka lapho ingane inesikhala noma ihlukanisiwe ophahleni lomlomo wayo, kungaba engxenyeni engaphambili yomlomo, okuyingxenye enamathambo, noma engxenyeni engemuva yomlomo, okuyingxenye yezicubu ezithambile, noma kuzo zombili izingxenye.

Ivamise kangakanani i-Van der Woude Syndrome?

Empeleni lesi yisimo esingavamile kakhulu. Uma ubheka emhlabeni wonke, lesi simo sithinta cishe umuntu oyedwa kubantu abangu-35,000 kuya ku-100,000. Ngakho ungabona ukuthi lokhu kuyivelakancane kangakanani.

Iyini imbangela yalokhu?

Manje ake sibone ukuthi yini ebangela i-Vander Wood Syndrome. Isizathu esiyinhloko salokhu ushintsho lwezakhi zofuzo.

Konke emzimbeni wethu kulawulwa uchungechunge lwemiyalelo emincane. Yilokhu esikubiza ngokuthi 'amajini'. Kufana neresiphi. Ngakho-ke, ijini ekhethekile ebizwa ngokuthi 'i-IRF6' (i-Interferon Regulatory Factor 6) ihilelekile ku-Vander Wood syndrome.Lesi sakhi sofuzo esithi `IRF6` sisebenza njengonjiniyela owakha izinto ezifana nekhanda lomntwana, ubuso, isikhumba, kanye nezitho zangasese. Nguye owenza izithako `zamaprotheni` ezidingekayo ukuze lokhu kukhule kahle.

Manje cabanga, kwenzekani uma kukhona ushintsho oluncane, noma singasho ukuthi 'ukuguqulwa', emiyalweni esetshenziswa yilo 'njiniyela', ku-'IRF6` gene'? Leso sithako 'seprotheyini' asikhiqizwa ngenani elidingekayo. Yilapho ezinye izingxenye zobuso bomntwana, ikakhulukazi izindebe nolwanga, zingakhuli kahle. Uyaqonda?

Izingane ezinalesi simo zizuza ifa lofuzo elishintshiwe elithi 'IRF6' kumzali oyedwa kuphela, kungaba umama noma ubaba. Njengoba ososayensi beqhubeka nokucwaninga ngalokhu, kungenzeka ukuthi kutholakale ezinye izakhi zofuzo ezihilelekile esikhathini esizayo.

Ubani osengozini enkulu yokuthuthukisa lokhu?

I-Vander Wood syndrome iyisifo esivame kakhulu esibangelwa yi-autosomal dominant . Kalula nje, lokhu kusho ukuthi uma noma yimuphi umzali ene-gene mutation ebangela lesi sifo, ingane ingasizuza njengefa.

Lokhu kusho ukuthi uma noma yimuphi umzali enokuguqulwa kwezakhi zofuzo, ingane ngayinye abanayo inethuba elingu-50% lokuthola lesi simo njengefa. Ngokuvamile, umzali ozuza ifa lezakhi zofuzo naye unalesi simo. Kodwa-ke, akuvamile kakhulu, ingane ingazuza ifa le-mutation yezakhi zofuzo futhi ingakhombisi izimpawu ze-Vander Wood syndrome.

Ziyini izimpawu zalesi simo?

Kunezimpawu eziningana eziyinhloko ze-Vander Wood Syndrome, okufanele siziqaphele.

• Umlomo oqhekekile, ulwanga oluqhekekile, noma kokubili: Lesi yisici esivelele nesisobala kakhulu.
• Imigodi noma izindunduma zezindebe: Izimbobo ezincane noma izindunduma zingavela ohlangothini olulodwa noma zombili zodebe olungezansi. Ngezinye izikhathi kungaba khona eyodwa noma ngaphezulu kwalezi.
• Udebe olungezansi olumanzi: Ngenxa yokuthi 'lezi zimbobo zezindebe' zixhunywe kumathe noma kuma-mucus glands, udebe olungezansi lungase lubonakale lumanzi futhi lumanzi njalo.
• Amazinyo angekho (hypodontia) noma izinkinga nge-enamel yamazinyo (i-dental hypoplasia): Ezinye izingane zingase zibe zingenalo i-enamel eyodwa noma ngaphezulu ehlala njalo. Zingase zibe nezinkinga ezithile ngokuthuthukiswa kwe-enamel, isembozo sangaphandle esivikelayo samazinyo.

Yiziphi izinkinga ezingaba khona ngenxa yalesi simo?

Ezinye izingane ezine-Vander Wood syndrome nazo zingase zibe nezinye izinkinga, kodwa akubona bonke abanazo.

• Ukulibaziseka kokukhula: Ezinye izingane zingase zibhekane nokulibaziseka okuthile ekukhuleni kwazo konke.
• Ukukhubazeka okuncane kokuqonda: Kungase kube nokukhubazeka okuncane emakhonweni okufunda.
• Ukulibaziseka kwenkulumo nolimi: Izinkinga zezindebe nolwanga zingabangela ukubambezeleka kwenkulumo nokuthuthukiswa kolimi.

Ungakwazi yini ukukubona lokhu ngesikhathi umntwana esesiswini?

Yebo, ngezinye izikhathi kungenzeka.

Ukuhlolwa kwe-ultrasound ngesikhathi umntwana esesesibelethweni ngezinye izikhathi kungabona udebe oluqhekekile futhi, ngokungavamile, ulwelwesi oluqhekekile. Kukhona nokuhlolwa okukhethekile kokuhlola ukuguqulwa kwezakhi zofuzo ze-IRF6. Lokhu kubizwa ngokuthi ukuhlolwa kokukhulelwa.

• Ukuhlolwa kwe-Chorionic villus (CVS): Lokhu kuhilela ukuthatha isampula encane yezicubu ezivela ku-placenta bese uyihlola.
• I-amniocentesis yezakhi zofuzo: Lokhu kuhilela ukuthatha isampula yoketshezi lwe-amniotic oluzungeze umntwana bese kuhlolwa izakhi zofuzo zakhe.

Lezi zivivinyo zingaqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo.

Lokhu kunqunywa kanjani ngempela ngemva kokuzalwa komntwana?

Uma ingane yakho ine-cleft lip, i-cleft palate, noma i-lip pits ngemva kokuzalwa, udokotela wakho cishe uzoncoma ukuhlolwa kwezakhi zofuzo . Lokhu kuvame ukwenziwa ngokuthatha isampula yegazi. Lokhu kuhlolwa kuzoqinisekisa ukuthi une-IRF6 gene mutation ebangela i-Vander Wood syndrome. Ngezinye izikhathi wena nomlingani wakho ningacelwa ukuba nenze lokhu kuhlolwa kwezakhi zofuzo ukuze niqonde umlando wezakhi zofuzo zomndeni wenu.

Ukwelapha kanjani lokhu?

Ukwelashwa okuyinhloko kwalesi simo ukuhlinzwa . Ungakhathazeki, lokhu kuhlinzwa sekuthuthuke kakhulu manje.

• Kudingeka ukuhlinzwa ukuze kuvalwe izikhala phakathi komlomo oqhekekile nomlomo oqhekekile, okungukuthi, ukuze kulungiswe.
• Ukuhlinzwa komlomo oqhekekile kuvame ukwenziwa lapho umntwana ephakathi kwezinyanga ezimbili neziyisithupha ubudala.
• Ukuhlinzwa kokulungisa ulwelwesi oluqhekekile kuvame ukwenziwa kamuva, okungukuthi, lapho umntwana ephakathi kwezinyanga ezingu-9 nezingu-18 ubudala .
• Uma unezimbobo zezindebe esikhulume ngazo, kwenziwa ukuhlinzwa ukuze zisuswe futhi kuvinjwe amathe kanye ne-mucus ukuthi kungangeni ezindebeni. Lokhu kuhlinzwa ngezinye izikhathi kungenziwa ngesikhathi esifanayo nokuhlinzwa ukuze kulungiswe i-'cleft lip' noma i-'cleft palate'.

Yiziphi ezinye izindlela zokwelapha ezikhona?

Ngaphezu kokuhlinzwa, kunezinye izindlela zokwelapha ezingasiza ingane.

• Ubunzima bokudla: Izingane ezinezindebe eziqhekekile noma ulwelwesi oluqhekekile zingase zibe nobunzima bokuncela nokudla kuze kube yilapho zihlinzwa. Uma lokhu kwenzeka, kungadingeka ukuthi ubonane nochwepheshe wezokudla noma uchwepheshe wolimi lokukhuluma ukuze uthole iseluleko ngamabhodlela akhethekile okuphakela kanye namasu okuphakela.
• Ukwelashwa ngenkulumo: Ezinye izingane zingase zibe nobunzima bokukhuluma ngemva kokuhlinzwa. Ukwelashwa ngenkulumo kungaba usizo olukhulu ezimweni ezinjalo.
• Ukwelashwa kwamazinyo:Kungakhathaliseki ukuthi unamazinyo aphumile noma unezinkinga nge-enamel yezinyo lakho, kubalulekile ukuhlolwa kwamazinyo njalo nodokotela wamazinyo ochwepheshe futhi unakekele kahle amazinyo akho nezinsini. Kungase kudingeke futhi ukuthi uthole amazinyo okufakelwa noma ukwelashwa nge-orthodontic ukuze kuthathelwe indawo amazinyo aphumile.

Ingabe i-Van der Woude Syndrome ingavinjelwa?

Lesi yisimo sofuzo, ngakho-ke kunzima ukusivimbela ngokuphelele. Kodwa-ke, uma wazi ukuthi wena noma umlingani wakho ninokuguqulwa kwezakhi zofuzo okubangela lokhu, kuwumqondo omuhle ukubona umeluleki wezakhi zofuzo ngaphambi kokuba nibe nomntwana.

Umeluleki wezakhi zofuzo angakuchazela ingozi yokudlulisela lokhu kuguquka kwezakhi zofuzo ezizukulwaneni ezizayo, nokuthi yiziphi izindlela ezingasetshenziswa ukunciphisa leyo ngozi (isibonelo, izinto ezifana ne-'PGD' - `Ukuxilongwa Kwezakhi Zofuzo Ngaphambi Kokufakelwa`, okwenziwa ngobuchwepheshe obufana ne-'IVF`).

Liyini ikusasa lomuntu onalesi simo?

Lokhu kungase kuzwakale kusabisa, kodwa ezimweni eziningi, lesi simo singelashwa ngempumelelo. Ukuhlinzwa kokulungisa i-cleft lip kanye ne-cleft lip kuphumelele kakhulu. Kunezinto eziningi ongazenza ekhaya ukusiza ingane yakho ilulame ngokushesha ngemva kokuhlinzwa.

Iningi lezingane liphila kahle ngemva kokuhlinzwa futhi liphila impilo ejwayelekile, egcwele njengezinye izingane. Uma benenkinga yokukhuluma, ukwelashwa ngenkulumo kungasiza. Ngakho-ke kubalulekile ukuba nethemba.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inezinkinga ezilandelayo, xhumana nodokotela ngokushesha:

• Ubunzima bokuphefumula
• Ubunzima bokudla
• Ubunzima bokukhuluma
• Ubunzima bokugwinya

Uma unalezi zinto, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha.

Yini okufanele uyibuze udokotela wakho?

Uma uya kudokotela, ungabuza le mibuzo:

• Yini ebangela ukuthi ingane yami ibe ne-Vander Wood syndrome?
• Ingabe ingane yami idinga ukuhlinzwa? Uma kunjalo, kuzokwenziwa nini?
• Yiziphi ezinye izindlela zokwelapha ezitholakalayo ezingasiza ingane yami?
• Yini engingayenza ekhaya ukuze ngisize ngezinkinga zokudla nokukhuluma?
• Ingabe mina nomyeni wami kufanele sihlolwe izakhi zofuzo?
• Ingabe kufanele ngiqaphele izimpawu zezinkinga?

Buza le mibuzo bese ucacisa konke okusengqondweni yakho.

Uyini umehluko phakathi kwe-Van der Woude Syndrome kanye ne-Popliteal Pterygium Syndrome?

Lokhu nakho kuyinkimbinkimbi kancane, kodwa kuhle ukukwazi kafushane.

I-Popliteal Pterygium Syndrome (PPS) nayo iyisimo esiyinhloko se-autosomal. Njenge-Vander Wood Syndrome, ibangelwa ukuguquka kwezakhi zofuzo ezifanayo, i-IRF6. Kodwa-ke, i-PPS ivame kakhulu kune-Vander Wood Syndrome.Akuvamile (kuthinta umuntu oyedwa kuphela kwabangu-300,000 emhlabeni).

Ngaphezu kwezimpawu ze-Vander Wood syndrome, njenge-cleft lip, i-cleft palate, kanye ne-lip pits, ingane ene-'PPS' ingaba nezinye izimpawu eziningana:

• Kungase kube nezicubu eziningi ezinamathele phakathi kwamehlo aphezulu nangaphansi, noma phakathi kwemihlathi.
• Kungase kube nokugoba kwesikhumba phezu kwezinzwane ezinkulu.
• I-labia majora, ingxenye engaphandle yesitho sangasese sowesifazane emantombazaneni, ayikhuli kahle.
• Amasende abafana awazange ehle.
• Kungase kube khona ama-webs esikhumba ngemuva kwamadolo noma phakathi kweminwe noma izinzwane (okubizwa nangokuthi i-syndactyly).

Ekugcineni, yini okufanele uyikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa udabuke, ukhathazekile, futhi uthukuthele ngisho nalapho uthola ukuthi ingane yakho inesici sobuso esingavamile, njenge-'lip pits', i-'cleft lip', noma i-'cleft palate'. Njengomzali, akukho okubi ngokuzizwa ngaleyo ndlela.

Kodwa into ebalulekile ukuthi eziningi zalezi zimo zingelashwa ngempumelelo. Ukuhlinzwa kungalungisa eziningi zalezi zinguquko zomzimba, kusize ingane yakho ikhule kahle, idlale nabanye, ifunde, futhi iphile impilo evamile.

Uma ingane yakho inenkinga yokudla noma yokukhuluma, ungacela usizo lochwepheshe. Uma kukhona izinkinga zamazinyo, kubalulekile ukuthola iseluleko samazinyo njalo.

Uma ingane yakho ine-Vander Wood syndrome, kubalulekile ukubona umeluleki wezakhi zofuzo ukuze akhulume ngokuthi ukuguquka kwezakhi zofuzo okubangele lokhu kungathinta kanjani izizukulwane ezizayo nokuthi yiziphi izinketho zakho. Awuwedwa, futhi kunodokotela abaningi, abelaphi, kanye nabeluleki abangakusiza kulolu hambo.

I- Van der Woude Syndrome, izindebe ezigobile, izindebe ezigobile, i-cleft palate, i-IRF6 gene, ukuguquka kwezakhi zofuzo, ukukhubazeka kokuzalwa, ukuhlinzwa, impilo yabantwana, ukwelulekwa kwezakhi zofuzo