Ingaba umntwana wakho unazo ezi mpawu? Masithethe ngeCleidocranial Dysplasia

Ngaba ii-fontanel zomntwana wakho zifika kade? Okanye amathambo akhe entanyeni abonakala ngathi akakho kwindawo yawo? Ngaba amazinyo akhe afika kade? Kuqhelekile ukuba abazali bazive besoyika xa bebona ezi zinto. Namhlanje siza kuthetha nge-Cleidocranial Dysplasia, imeko engaqhelekanga yemfuza enokubangela ezi mpawu.

Yintoni iCleidocranial Dysplasia?

Ngamafutshane, i-Cleidocranial Dysplasia yimeko yemfuza echaphazela uphuhliso lwenkqubo yamathambo emizimbeni yethu, ingakumbi ukhakhayi, amathambo, namazinyo. Okwenzekayo kukuba la malungu awakhuli kwaye akaphuhli ngendlela eqhelekileyo.

Abantu abanale meko banokuba neempawu ezithile zomzimba ezibahlukileyo . Umzekelo:

• Amathambo e-collarbone (clavicles) asenokuba akakhulanga kakuhle okanye angabikho kwaphela. Oku kunokubangela ukuba abanye abantwana bahlanganise amahlombe abo phambi kwesifuba sabo.
• Ubude obufutshane.
• Ezinye iimpawu zobuso ezikhethekileyo (umz., ibunzi elibanzi, umhlathi omncinci).
• Ukulibaziseka ekuphuhlisweni kwamazinyo (umz., ukulibaziseka kokuphuma kwamazinyo omntwana, ukulibaziseka kokuphuma kwamazinyo asisigxina, amazinyo angaphezulu, kunye nokulahlekelwa ngamazinyo).

Kodwa khumbula oku, le meko ayinampembelelo kwingqondo yomntwana okanye ekuphuhlisweni kwengqondo.

Ngubani ochaphazeleka kakhulu yile meko? Ixhaphake kangakanani?

I-Cleidocranial Dysplasia sisifo semfuza esinokufunyanwa ngabazali bobabini. Oku kubizwa ngokuba yi-autosomal dominant pattern of inheritance. Umzekelo, ukuba omnye wabazali unesifo semfuza, kukho amathuba angama-50% okuba nomntwana naye abe nale meko.

Kwakhona, ngamanye amaxesha umntwana unokuba nale meko ngokungacwangciswanga, oko kukuthi, `de novo`, nokuba akukho mntu kusapho lwakhe owakha waba nale meko ngaphambili.

Esi sisifo esingaqhelekanga . Ehlabathini lonke, ngumntwana omnye kuphela kwisigidi ozalwa enale meko.

Ziziphi iimpawu zeCleidocranial Dysplasia?

Ayingabo bonke abantu abanale meko abafumana iimpawu ezifanayo. Abanye abantu baneempawu ezimbalwa, abanye baneempawu ezingaphezulu. Kwakhona, ubukhali beempawu bungahluka kumntu nomntu.

Iimpawu eziphambili ezibonakala rhoqo zezi:

• Ukuvalwa okulibazisekileyo kwamabala athambileyo (i-fontanelles) kunye ne-sutures. Amabala athambileyo aphezu kwentloko yomntwana afana nomngxuma, kwaye athatha ixesha elide ukuwazalisa.
• Amathambo e-collarbone (clavicles) awakhuliswanga kakuhle okanye awekho. Oku kunokubangela ukuba abanye abantwana basondeze amahlombe abo phambili baze bawahlanganise.
• Iingxaki zamazinyo:
• Ukuqhuma kwamazinyo angapheliyo okulibazisekileyo.
• Inyani yokuba amazinyo omntwana awaphumi.
• Amazinyo angaphezulu.
• Ukuxinana kwamazinyo.
• Amazinyo axineneyo kwaye angadibani kakuhle (i-malocclusion).

Ukongeza koku, ezinye iimpawu ezinokuchaphazela uphuhliso lomzimba lomntwana zingabandakanya:

• Ubunzima bokuphefumla: ingakumbi ukufuthaniseka ngexesha lokulala (obstructive sleep apnea).
• I-Scoliosis.
• Ukukhula okungaqhelekanga kwamathambo ezandleni .
• Ukuncipha kobude okanye ukukhula okulibazisekileyo.
• Izakhono zokushukuma komzimba ezilibazisekileyo: Oku kuthetha ukuba izinto ezinje ngokukhasa, ukuhamba, kunye nokunyuka ziyalibaziseka.
• Usulelo oluqhelekileyo lwe-sinus kunye nosulelo lwendlebe. Ukuba usulelo lwendlebe luyaqhubeka, ukulahleka kokuva nako kunokwenzeka.
• Ukuncipha koxinano lwamathambo (i-osteopenia okanye i-osteoporosis).

Into ebalulekileyo kukuba nokuba abazali banale meko, iimpawu zabo zinokwahluka kwiimpawu zomntwana.

Yintoni isizathu sale nto? Masiqonde kancinci icala lemfuza.

Eyona nto ibangela iCleidocranial Dysplasia kukuguquka kwejini ethi `RUNX2`. Oku, njengoko bekutshiwo ngaphambili, kungenzeka ngokungacwangciswanga (de novo) okanye kusenokufunyanwa kubazali.

Ngoku masibone ukuba zeziphi ezi gene. Khawucinge ukuba umzimba wethu ufana nencwadi enkulu. Le ncwadi inezahluko ezininzi. Ezo zahluko zibizwa ngokuba zii-'chromosomes'. Iseli nganye yethu inee-chromosomes ezingama-46, oko kukuthi, izibini ezingama-23. Ngaphakathi kwezi chromosomes kukho iseti epheleleyo yemiyalelo eyakha nelawula imizimba yethu, oko kukuthi, i-'DNA'. Ii-'genes' ziindawo ezincinci ze-'DNA', njengezivakalisi ezikwincwadi. I-chromosome nganye inee-genes ezingamawakawaka.

Sifumana iikopi ezimbini zejini nganye - enye evela kumama wethu nenye evela kubaba wethu. I-Cleidocranial Dysplasia yimeko elawulayo ye-autosomal, oko kuthetha ukuba nokuba umntwana uzuze ijini eguquliweyo kumzali omnye kuphela, kwanele ukuba umntwana abe nesifo.

Kubalulekile: Ukuba omnye umzali une-`RUNX2` gene change, umntwana wakhe unethuba elingama-50% lokufumana esi sifo njengelifa.

Ifunyanwa njani iCleidocranial Dysplasia?

Esi simo sidla ngokufunyaniswa emva kokuba umntwana ezelwe. Ugqirha wakho uza kumhlola umntwana wakho, akhangele iimpawu, aze acele iimvavanyo ukuqinisekisa ukuba unesifo.

Iimvavanyo eziphambili ezenziweyo koku zezi:

• Ii-X-reyi zamazinyo.
• Ukuhlolwa kwamathambo nge-X-reyi, ingakumbi ukhakhayi, amathambo e-collarbones (clavicles), kunye nezandla.Olu vavanyo lwe-X-ray luvumela ugqirha ukuba abone ngokuchanekileyo utshintsho emathanjeni aze enze isicwangciso sonyango esifanelekileyo kumntwana.
• Uvavanyo lwemfuza. Le yindlela ekuphela kwayo yokuqinisekisa ukuxilongwa. Oku kuquka ukuthatha isampuli yegazi lomntwana uze ulivavanye kwilebhu ukuze kubonwe ukuba kukho naluphi na utshintsho kwi-DNA yomntwana, kwiikromosomu, okanye kwiiproteni. Olu vavanyo lwemfuza lunokumisela ukuba yeyiphi i-gene enotshintsho.

Inyangwa njani? Ngaba inganyangeka ngokupheleleyo?

Akukho nyango lweCleidocranial Dysplasia. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezifumanekayo ukunceda ukulawula iimpawu kunye nokunciphisa ukungonwabi okubangelwa yile meko. Isicwangciso sonyango sahlukile kumntwana ngamnye, oko kuthetha ukuba unyango lumiselwa ngokusekelwe kwiimpawu zomntwana.

Unyango lungabandakanya:

• Ukhathalelo lwamazinyo: ukugcinwa kwamazinyo, unyango lwamazinyo, kunye notyando lwamazinyo ukuba kuyimfuneko.
• Utyando lweengxaki zokukhula kwamathambo.
• Utyando lweengxaki zekhakayi kunye namathambo obuso (`utyando lwe-Craniofacial`).
• Ukunxiba izigcina-ntloko ezikhethekileyo okanye izixhaso de amathambo ekhakayi agqunywe ngokupheleleyo.
• Unyango lokuthetha.
• Ukuba unezifo zendlebe ezixhaphakileyo, iityhubhu zendlebe zingafakwa.
• Ukuba unengxaki yokuva, nxiba izixhobo zokuva.
• Ukubonelela ngezongezo ze-calcium kunye ne-vitamin D.
• Ukuba unengxaki yokuphefumla xa ulele (sleep apnea), kuyacetyiswa ukuba wenze utyando.

Ngaba ikho indlela yokunciphisa umngcipheko wokuba oku kwenzeke?

I-Cleidocranial Dysplasia ibangelwa kukuguquka kwezakhi zofuzo, ngoko ke akukho ndlela yokuyithintela. Nangona kunjalo, ukuba ulindele umntwana, kubalulekile ukuba uqaphele iimeko zezakhi zofuzo, uqonde umngcipheko wokudlulisela imeko yezakhi zofuzo kumntwana wakho, kwaye uthethe nogqirha wakho malunga neengcebiso zezakhi zofuzo, kwaye ukuba kuyimfuneko, uvavanyo lwezakhi zofuzo.

Kuza kwenzeka ntoni ukuba umntwana wam uneCleidocranial Dysplasia? Ndimele ndilindele ntoni?

Abantwana abafunyenwe benesi sifo banokulindela ukuba umntwana abe neempawu ezintle. Unyango lunokulawula iimpawu. Ukuba umntwana uneempawu ezinzulu emva kokuzalwa (umz. iingxaki ezinkulu zokukhula kwamathambo, ubunzima bokuphefumla), oogqirha baya kunyanga ngokukhawuleza, baze benze notyando ukuba kuyimfuneko.

Unyango lwamazinyo oluhlala ixesha elide luyimfuneko ngokuqinisekileyo.Oko kukuthi, lungisa amazinyo ukuze angabingeli ntlungu okanye ukungonwabi njengoko ekhula. Iqela lakho lezonyango liza kudala isicwangciso esithile sonyango esilungiselelwe iimpawu zomntwana wakho, sincede umntwana wakho aphile ubomi obupheleleyo nobunempilo.

Ufanele uye nini kugqirha?

Ukuba ubona naziphi na iimpawu zeCleidocranial Dysplasia eziphazamisana nemisebenzi yemihla ngemihla yomntwana wakho okanye impilo-ntle yakhe, bona ugqirha ngokukhawuleza. Umzekelo:

• Ukuba unentlungu okanye ukungakhululeki emlonyeni okanye emazinyweni akho.
• Ukuba unesifo se-sinus okanye indlebe rhoqo.
• Ukuba uziva ngathi awukwazi ukuva kakuhle, okanye ukuba awuphenduli nomyalelo olula.
• Ukuba umntwana ufike kade ekufikeleleni kwimigangatho yokukhula efanelekileyo ngokweminyaka yakhe (umz. ukuthetha, ukuhamba).
• Ukuba uphefumla kancinci kancinci, yeka ukuphefumla xa ulele ebusuku, okanye ukuba uziva udiniwe kakhulu emini.

KUBALULEKILE: Ukuba umntwana wakho unengxaki yokuphefumla, yiya kwigumbi likaxakeka lesibhedlele esikufutshane ngoko nangoko, okanye utsalele umnxeba ku-1990.

Ndingayibuza yiphi imibuzo ugqirha?

Xa uthetha nogqirha ngemeko yomntwana wakho, ungambuza le mibuzo:

• Ngaba umntwana wam uza kufuna utyando lwamazinyo ukuba amazinyo akhe awangeni kakuhle?
• Ndingenza ntoni ukuba umntwana wam ufika kade kwinqanaba lokukhula?
• Ingakanani ingozi yokuba nomntwana onesimo semfuza?

Ngaba kukho umntu odumileyo onale meko?

Ewe, mhlawumbi uyamazi uGaten Matarazzo, umdlali weqonga odlala uDustin Henderson kuthotho lweNetflix oludumileyo iStranger Things. Utyhile esidlangalaleni ukuba uneCleidocranial Dysplasia. Ngokutsho kukaGaten, unethamsanqa kakhulu ukuba nale meko kuba unayo, kwaye uthi unethamsanqa kakhulu kuba uneempawu ezincinci. Usebenzisa udumo lwakhe ukuthethelela abantwana abanale meko, ukuphakamisa ulwazi ngesi sifo, kunye nokunceda ukuphelisa iingcamango ezingalunganga malunga nokuphila nale meko yemfuza.

Okokugqibela, umyalezo oya ekhaya

Abantwana abazelwe benesifo esibizwa ngokuba yiCleidocranial Dysplasia banokuphila ubomi obuhle kakhulu. Unyango lunokulawula iimpawu kwaye luncede umntwana aphile ubomi obonwabisayo nobanelisayo.

Eyona nto ibalulekileyo kukubona ugqirha wamazinyo rhoqo kwaye unyamekele amazinyo akho. Kuya kufuneka ubone ugqirha ngaphezu kwabanye abantwana, ukuze loo mazinyo akhule ngaphandle kokungonwabi okanye iintlungu.

Ukuba ukhulelwe umntwana, kubaluleke kakhulu ukufumana iingcebiso ngemfuza ukuze ufunde ngomngcipheko wokudlulisela imeko yemfuza kumntwana wakho.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo engaphezulu, nceda uzive ukhululekile ukuthetha nogqirha wakho.

I- Cleidocranial dysplasia, izifo zemfuza, uphuhliso lwamathambo, iingxaki zamazinyo, i-RUNX2 gene, uvavanyo lwemfuza, impilo yomntwana