Ingabe ingane yakho inalezi zimpawu? Ake sixoxe nge-Cleidocranial Dysplasia

Ingabe ama-fontanel engane yakho asephuzile ukugcwalisa? Noma ingabe amathambo ayo azwakala engafanele? Ingabe amazinyo ayo afika sekwephuzile? Kuvamile ngabazali ukuzizwa besaba kancane uma bebona lezi zinto. Namuhla sizokhuluma nge-Cleidocranial Dysplasia, isimo esingavamile sofuzo esingabangela lezi zimpawu.

Kuyini i-Cleidocranial Dysplasia?

Kalula nje, i-Cleidocranial Dysplasia yisimo sofuzo esithinta ukukhula kwesistimu yamathambo emizimba yethu, ikakhulukazi ugebhezi, amathambo namazinyo. Okwenzekayo ukuthi lezi zingxenye azikhuli futhi azikhuli ngendlela evamile.

Abantu abanalesi simo bangase babe nezici ezithile zomzimba ezihlukile . Isibonelo:

• Amathambo e-collarbone (clavicles) kungenzeka ukuthi awakhulanga kahle noma angabi khona nhlobo. Lokhu kungabangela ukuthi ezinye izingane zihlanganise amahlombe azo phambi kwesifuba sazo.
• Ubude obufushane.
• Ezinye izici zobuso ezikhethekile (isib., ibunzi elibanzi, umhlathi omncane).
• Ukubambezeleka ekukhuleni kwamazinyo (isib., ukuqhuma kwamazinyo amancane okulibaziseka, ukuqhuma kwamazinyo ahlala njalo okulibaziseka, amazinyo engeziwe, kanye nokulahlekelwa amazinyo).

Kodwa khumbula lokhu, lesi simo asinawo umthelela ekuhlakanipheni noma ekukhuleni kwengqondo kwengane.

Ubani othinteka kakhulu yilesi simo? Sivame kangakanani?

I-Cleidocranial Dysplasia yisifo sofuzo esingazuzwa kubazali bobabili. Lokhu kubizwa ngokuthi iphethini elilawulayo lefa le-autosomal. Isibonelo, uma noma yimuphi umzali enesifo sofuzo, kunethuba elingu-50% lokuthi ingane nayo izoba nalesi simo.

Futhi, ngezinye izikhathi ingane ingahlakulela lesi simo ngokungahleliwe, okungukuthi, `de novo`, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Lesi yisimo esingavamile kakhulu. Emhlabeni wonke, ingane eyodwa kuphela kwesigidi ezalwa inalesi simo.

Ziyini izimpawu ze-Cleidocranial Dysplasia?

Akuwona wonke umuntu onalesi simo obhekana nezimpawu ezifanayo. Abanye abantu banezimpawu ezimbalwa, abanye banezimpawu eziningi. Futhi, ubukhali bezimpawu bungahluka kuye ngomuntu nomuntu.

Izimpawu eziyinhloko ezivame ukubonakala yilezi:

• Ukuvalwa okulibazisekile kwamabala athambile (ama-fontanelles) kanye nama-suture. Amabala athambile phezulu kwekhanda lomntwana afana nembobo, futhi athatha isikhathi eside ukuwagcwalisa.
• Amathambo e-collarbone (clavicle) awakhuli kahle noma awekho. Lokhu kungabangela ukuthi ezinye izingane ziphakamise amahlombe azo bese ziwahlanganisa.
• Izinkinga zamazinyo:
• Ukuqhuma kwamazinyo ahlala isikhathi eside.
• Iqiniso lokuthi amazinyo omntwana awaphumi.
• Amazinyo engeziwe.
• Ukuminyana kwamazinyo.
• Amazinyo aminyene futhi angahlangani kahle (i-malocclusion).

Ngaphezu kwalokhu, ezinye izimpawu ezingathinta ukukhula komzimba kwengane zingase zihlanganise:

• Ubunzima bokuphefumula: ikakhulukazi ukuminyana ngesikhathi sokulala (i-obstructive sleep apnea).
• I-Scoliosis.
• Ukukhula okungajwayelekile kwamathambo ezandleni .
• Ukwehla kokuphakama noma ukukhula okulibazisekile.
• Amakhono okunyakaza abambezelekile: Lokhu kusho ukuthi izinto ezifana nokukhasa, ukuhamba, kanye nokukhuphuka ziyabambezeleka.
• Ukutheleleka okuvamile kwe-sinus kanye nokutheleleka kwendlebe. Uma ukutheleleka kwendlebe kuqhubeka, ukulahlekelwa ukuzwa nakho kungavela.
• Ukwehla kobuningi bamathambo (i-osteopenia noma i-osteoporosis).

Into ebalulekile ukuthi noma abazali benalesi simo, izimpawu zabo zingase zihluke kwezengane.

Iyini imbangela yalokhu? Ake siqonde uhlangothi lwezakhi zofuzo kancane.

Imbangela eyinhloko ye-Cleidocranial Dysplasia ukuguquka kwezakhi zofuzo `RUNX2`. Lokhu, njengoba kushiwo ngaphambili, kungenzeka ngokungahleliwe (de novo) noma kungazuzwa njengefa kubazali.

Manje ake sibone ukuthi lezi zakhi zofuzo ziyini. Cabanga ukuthi umzimba wethu ufana nencwadi enkulu. Le ncwadi inezahluko eziningi. Lezo zahluko zibizwa ngokuthi 'ama-chromosome'. Iseli ngalinye lethu linama-chromosome angu-46, okungukuthi, amabhangqa angu-23. Ngaphakathi kwala ma-chromosome kukhona isethi ephelele yemiyalelo eyakha futhi ilawule imizimba yethu, okungukuthi, 'i-DNA'. 'Izakhi zofuzo' ziyizingxenye ezincane zaleyo 'DNA', njengemisho esencwadini. I-chromosome ngayinye inezinkulungwane zezakhi zofuzo.

Sithola amakhophi amabili esakhi sofuzo ngasinye - esisodwa esivela kumama wethu kanye nesinye esivela kubaba wethu. I-Cleidocranial Dysplasia iyisimo esiyinhloko se-autosomal, okusho ukuthi noma ingane izuza isakhi sofuzo esiguquliwe kumzali oyedwa kuphela, kwanele ukuba ingane ibe nalesi sifo.

Okubalulekile: Uma umzali oyedwa enalolu shintsho lwezakhi zofuzo lwe-`RUNX2`, ingane yakhe inethuba elingu-50% lokuthola lesi simo njengefa.

I-Cleidocranial Dysplasia ihlolwa kanjani?

Lesi simo sivame ukutholakala ngemva kokuzalwa komntwana. Udokotela wakho uzohlola ingane yakho, abheke izimpawu, bese eyala ukuhlolwa ukuqinisekisa ukuxilongwa.

Ukuhlolwa okuyinhloko okwenziwe kulokhu yile:

• Ama-X-ray amazinyo.
• Ama-X-ray amathambo, ikakhulukazi ugebhezi, amathambo e-collarbone (ama-clavicle), kanye nezandla.Lezi zivivinyo ze-X-ray zivumela udokotela ukuthi abone ngokunembile izinguquko emathanjeni futhi adale uhlelo lokwelapha olufanele ingane.
• Ukuhlolwa kwezakhi zofuzo. Lena yindlela kuphela yokuqinisekisa ukuxilongwa. Lokhu kuhilela ukuthatha isampula yegazi lengane bese ulihlola elabhorethri ukuze kubonakale ukuthi kukhona yini ushintsho ku-DNA yengane, ama-chromosome, noma amaprotheni. Lokhu kuhlolwa kwezakhi zofuzo kunganquma ukuthi yiliphi i-gene elinokuguqulwa.

Ilashwa kanjani? Ingabe ingelapheka ngokuphelele?

Akukho ukwelashwa kwe-Cleidocranial Dysplasia. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezitholakalayo zokusiza ukuphatha izimpawu nokunciphisa ukungakhululeki okubangelwa yilesi simo. Uhlelo lokwelashwa luhlukile kumntwana ngamunye, okusho ukuthi ukwelashwa kunqunywa ngokusekelwe ezimpawini zengane.

Ukwelashwa kungafaka:

• Ukunakekelwa kwamazinyo: ukunakekelwa kwamazinyo, ukunakekelwa kwamazinyo, kanye nokuhlinzwa kwamazinyo uma kudingeka.
• Ukuhlinzwa kwezinkinga zokukhula kwamathambo.
• Ukuhlinzwa kwezinkinga zekhanda kanye namathambo obuso (`ukuhlinzwa kwe-Craniofacial`).
• Ukugqoka izigqoko noma izisekelo ezikhethekile kuze kube yilapho amathambo ekhanda esembozwe ngokuphelele.
• Ukwelashwa ngenkulumo.
• Uma unezifo zendlebe ezivame ukwenzeka, ungafakwa amapayipi ezindlebe.
• Uma unenkinga yokuzwa, gqoka izinsiza zokuzwa.
• Ukuhlinzeka nge-calcium kanye ne-vitamin D supplements.
• Uma unenkinga yokuphefumula ngesikhathi ulele (sleep apnea), kunconywa ukuhlinzwa.

Ingabe ikhona indlela yokunciphisa ingozi yokuthi lokhu kwenzeke?

I-Cleidocranial Dysplasia ibangelwa ukuguquka kwezakhi zofuzo, ngakho-ke ayikho indlela yokuyivimbela. Kodwa-ke, uma ulindele umntwana, kubalulekile ukuqaphela izimo zezakhi zofuzo, ukuqonda ingozi yokudlulisela isimo sezakhi zofuzo enganeni yakho, nokukhuluma nodokotela wakho mayelana nokwelulekwa kwezakhi zofuzo, kanye nokuhlolwa kwezakhi zofuzo uma kudingeka.

Kwenzekani uma ingane yami ine-Cleidocranial Dysplasia? Yini okufanele ngiyilindele?

Izingane ezitholakale zinalesi simo zingalindela isibikezelo esihle. Ukwelashwa kungalawula izimpawu. Uma ingane inezimpawu ezinkulu ngemva kokuzalwa (isib. izinkinga ezinkulu zokukhula kwamathambo, ubunzima bokuphefumula), odokotela bazozelapha ngokushesha, baze benze nokuhlinzwa uma kudingeka.

Ukwelashwa kwamazinyo isikhathi eside kuyadingeka nakanjani.Okusho ukuthi, lungisa amazinyo ukuze angabangeli ubuhlungu noma ukungakhululeki njengoba ekhula. Ithimba lakho lezokwelapha lizokwakha uhlelo oluthile lokwelapha oluhambisana nezimpawu zengane yakho, lusize ingane yakho iphile impilo egcwele nenempilo.

Kufanele ubonane nini nodokotela?

Uma ubona noma yiziphi izimpawu ze-Cleidocranial Dysplasia eziphazamisa imisebenzi yansuku zonke yengane yakho noma inhlalakahle yayo, bheka udokotela ngokushesha. Isibonelo:

• Uma uzwa ubuhlungu noma ukungakhululeki emlonyeni noma emazinyweni akho.
• Uma uvame ukuba nezifo ze-sinus noma zendlebe.
• Uma uzizwa sengathi awukwazi ukuzwa kahle, noma uma ungaphenduli ngisho nasemyalweni olula.
• Uma ingane yephuza ukufinyelela izigaba zokukhula ezifanele iminyaka yayo (isib. ukukhuluma, ukuhamba).
• Uma uzwa ukuphefumula ngezikhathi ezithile, yeka ngesikhathi ulele ebusuku, noma uma uzizwa ukhathele kakhulu emini.

KUBALULEKILE: Uma ingane yakho inenkinga yokuphefumula, iya ekamelweni lezimo eziphuthumayo esibhedlela esiseduze ngokushesha, noma ushayele u-1990.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Uma ukhuluma nodokotela ngesimo sengane yakho, ungabuza le mibuzo:

• Ingabe ingane yami izodinga ukuhlinzwa kwamazinyo uma amazinyo ayo engangeni kahle?
• Yini okufanele ngiyenze uma ingane yami yephuza ukufinyelela ezingeni lokukhula?
• Iyini ingozi yami yokuba nengane enesifo sofuzo?

Ingabe ukhona odumile onalesi simo?

Yebo, cishe uyamazi uGaten Matarazzo, umlingisi odlala uDustin Henderson ochungechungeni lwe-Netflix oludumile i-Stranger Things. Uveze obala ukuthi une-Cleidocranial Dysplasia. Ngokusho kukaGaten, unenhlanhla enkulu yokuba nalesi simo ngoba unaso, futhi uthi unenhlanhla enkulu yokuthi unezimpawu ezincane. Usebenzisa usaziwayo wakhe ukumela izingane ezinalesi simo, ukuqwashisa ngalesi sifo, nokusiza ekuqedeni imibono eyiphutha ngokuphila nalesi simo sofuzo.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Izingane ezizalwa zinesifo esibizwa ngokuthi i-Cleidocranial Dysplasia zingaphila impilo enhle kakhulu. Ukwelashwa kungalawula izimpawu futhi kusize ingane iphile impilo ejabulisayo neyanelisayo.

Into ebaluleke kakhulu ukubona udokotela wamazinyo njalo futhi unakekele amazinyo akho. Kuzodingeka ubonane nodokotela ngaphezu kwabanye abantwana, ukuze lawo mazinyo akhule ngaphandle kokungakhululeki noma ubuhlungu.

Uma ukhulelwe umntwana, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo ukuze ufunde ngengozi yokudlulisela isimo sofuzo enganeni yakho.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo, sicela ukhululeke ukukhuluma nodokotela wakho.

I- Cleidocranial dysplasia, izifo zofuzo, ukukhula kwamathambo, izinkinga zamazinyo, i-RUNX2 gene, ukuhlolwa kofuzo, impilo yengane