Ngaba wakha waphawula ukuba inxalenye yomzimba womntwana wakho, mhlawumbi ingalo, umlenze, okanye umnwe, inkulu ngokungaqhelekanga xa ithelekiswa neminye imizimba yakhe? Okanye wakha waphawula into engaqhelekanga, njenge-mole enkulu eluswini lwakhe okanye indawo edibeneyo yemithambo yegazi? Kuqhelekile ukuba nawuphi na umzali azive ekhathazekile xa ebona into efana nale. Namhlanje sithetha ngeqela leemeko ezingaqhelekanga ezinokubangela ezi zinto. Zibizwa ngokuba yi-PROS, okanye i-PIK3CA-Related Overgrowth Spectrum.
Masiqonde kakuhle ukuba zithini iiPROS kunye nePIK3CA.
Okokuqala, i-PROS ayisosifo sithile. Luluhlu lweemeko ezahlukeneyo. Zonke ezi meko zinento enye ezifanayo. Oko kukuthi, ezinye iindawo zomzimba ziba nkulu kakhulu (zikhule kakhulu) okanye zikhule zibe yimo engaqhelekanga.
Ngoku masibone ukuba kutheni oku kusenzeka. Isizathu esiphambili sale nto lutshintsho, oko kukuthi, utshintsho, kwijini ebizwa ngokuba yi-'PIK3CA' emizimbeni yethu.
Ngamafutshane, imizimba yethu ifana nomzi-mveliso omkhulu. Kukho iseti yemiyalelo yokuba yonke into kule mzi-mveliso kufuneka yenziwe ngokuchanekileyo. `PIK3CA` yijini ebalulekileyo enika imiyalelo enjalo. Yiyo exelela iiseli zethu, "Kulungile, ngoku uyahlukana," "Ngoku uyakhula," "Kulungile, ngoku ixesha lakho liphelile, yifa."
Nangona kunjalo, ukuba ileta ekwincwadi yemiyalelo yale jini ye-`PIK3CA` ayilunganga, oko kukuthi, ukuba kwenzeka utshintsho oluthile, imiyalezo efunyanwa zezo seli iyabhideka. Emva koko ezinye iiseli zahlukana ngokukhawuleza, okanye azifi ngexesha ekufanele zife ngalo. Kulapho sibona ukukhula okungaqhelekanga kwiindawo apho ezo seli zikhona, oko kukuthi, kwiindawo ezifana nolusu, imithambo yegazi, amathambo, izicubu zamafutha kunye nengqondo .
Kukho ingongoma ebalulekileyo ekufuneka uyikhumbule apha. I-PROS ayisosifo esidluliselwa kumzali ukuya emntwaneni. Oku kuthetha ukuba ukuba unesi sifo, umntwana wakho akayi kusifumana, kwaye ukuba omnye wabantwana bakho wayenaso, abanye abantwana abayi kusifumana. Olu tshintsho lwemfuza alukho kuzo zonke iiseli zomzimba womntwana, kodwa luyenzeka kuphela kwezinye iiseli. Ngoko ke musa ukoyika oku ngokungeyomfuneko.
Iimeko ezahlukeneyo zonyango eziphantsi kwe-PROS
Ngamanye amaxesha oogqirha baya kuxilonga isifo ngokuthe ngqo nge-PROS. Ngamanye amaxesha, baya kubiza imeko ethile yezonyango (i-syndrome) ewela phantsi kwe-PROS. Ezinye zezi zidweliswe kwitheyibhile engasezantsi.
| Igama lesifo (iSyndrome) | Iimpawu eziphambili kunye nenkcazo |
|---|---|
| I-Fibroadadipose hyperplasia | Kule meko, ukukhula kakhulu kwezicubu ezinamafutha, izicubu ezinemicu, okanye imithambo yegazi kubangela ukuba kubekho ukukhula okufana namaqhuma emalungeni okanye kwezinye iindawo zomzimba. Ekuhambeni kwexesha, oku kunokukhula kwaye kuphazamise ukuhamba kunye nokuhamba. |
| isifo se-CLOVES | Eli gama livela kwiileta zokuqala zeempawu. C - Congenital (ekhoyo ukususela ekuzalweni), L - Lipomatous (enxulumene namafutha - abantwana abaninzi banokubona into efana neqhuma elinamafutha), O - Ukukhula kakhulu (ukukhula okugqithisileyo), V - Ukukhubazeka kwemithambo yegazi (imithambo yegazi engaqhelekanga - njengeempawu zokuzalwa, imithambo yesigcawu), E - Epidermal nevus (uhlobo lwe-mole ebonakala eluswini), S - Spinal/Skeletal (iingxaki zomqolo okanye amathambo - umz. iintlungu zomqolo). |
| Isifo seMegalencephaly-capillary malformation (MCAP) | Ingqondo, imithambo yegazi, kunye neempawu zobuso zikhula ngokugqithisileyo. Aba bantwana banokuba nokulibaziseka kokukhula kunye neminwe emi ngendlela engaqhelekanga. |
| Isifo se-Hemihyperplasia-multiple lipomatosis (HHML) | Idla ngokuchaphazela ukukhula kweengalo nemilenze. Ii-tumor ezinamafutha ezikhula kancinci, ezingenabuhlungu (ii-lipomas) zenzeka phantsi kolusu kwiindawo ezahlukeneyo zomzimba, ingakumbi umqolo, umzimba, amalungu kunye neminwe. |
| I-Hemimegalencephaly | Kule meko, ingqondo yonke okanye isiqingatha sobuchopho siba sikhulu kunesiqhelo. Aba bantwana banokuba nokuxhuzula, ukukhubazeka, kunye nokulibaziseka kokukhula. |
| I-lipomatosis ehlasela ubuso | Ukudumba okanye ukukhula okungenabuhlungu kwinxalenye yobuso. Oku kudla ngokuvela kwicala elinye lentloko. Ngamanye amaxesha inxalenye yolwimi inokukhula kwaye amathambo namazinyo anokuchaphazeleka. |
Zithini iindlela zonyango zoku?
Akukho nyango lwe-PROS okwangoku. Nangona kunjalo, zininzi iindlela zokulawula le meko kunye neempawu zayo.
Ugqirha wakho uza kugqiba ngolona nyango lufanelekileyo kumntwana wakho. Uza kwenza ezi zigqibo emva kokuphonononga imeko yomntwana wakho ngononophelo kunye nokubonisana neengcali ezahlukeneyo (umz., oogqirha botyando, iingcali zemithambo-luvo). Nazi ezinye zeendlela eziphambili zonyango:
- Utyando: Utyando lunokucetyiswa ukuze kususwe izicubu ezikhule kakhulu, ingakumbi ukuba ukukhula kuphazamisana nokukwazi komntwana wakho ukuhamba okanye ukwenza imisebenzi yemihla ngemihla, kubeka uxinzelelo engqondweni, okanye kuyimfuneko ukulungisa imeko efana ne-scoliosis.
- Amayeza: Ugqirha wakho unokukunika amayeza okulawula iimpawu ezithile, ezifana nokuxhuzula. Uphando luyaqhubeka nangamayeza amatsha ajolise kumsebenzi wejini ye-PIK3CA.
Liza kuba njani ikamva lomntwana wam?
Le yenye yezona zinto zixhalabisayo nezixhalabisayo kumzali ngamnye. IINGXAKI yimeko ehlala ixesha elide. Ekubeni iimpawu zahlukile kakhulu kumntu nomntu, ikamva lomntwana linokwahluka ngokufanelekileyo.
Oku kuthetha ukuba abanye abantwana banokuphila ubomi obuqhelekileyo ngaphandle kwemiphumo emibi. Abanye, ingakumbi ukuba ingqondo ichaphazelekile, banokufumana umahluko ekufundeni kunye nokulibaziseka kokukhula.
Ukongeza, kufunyenwe ukuba abanye abantu abane-PROS banomngcipheko othile wokuba nomhlaza, kuba olu tshintsho lwezakhi zofuzo lwe-PIK3CA lukwafumaneka nakwiiseli zomhlaza kubantu abangenazo ii-PROS.
Musa ukoyika oku ngokungeyomfuneko. Eyona nto ibalulekileyo kukuthetha ngokukhululekileyo ngale ngozi nogqirha wakho. Emva koko, ungenza uvavanyo olufunekayo ngexesha kwaye ubone ukuba kukho umngcipheko wemeko enjalo na. Ugqirha wakho uya kuhlala ejonga imeko yomntwana wakho aze anike ulwalathiso olufunekayo.
Umyalezo Wokuya Ekhaya
- I-PROS liqela leemeko ezibangelwa kukuguquka kwejini `PIK3CA`. Oku akubangelwanga yimpazamo yabazali.
- Esi asisosifo esizuzwa njengelifa. Ukuba nje omnye wabantwana bakho unaso akuthethi ukuba nabanye abantwana baya kuba naso.
- Iimpawu zingahluka kakhulu kumntwana ngamnye. Ezinye zinokuba nemiphumo emincinci, ngelixa ezinye zinokuba neengxaki ezinkulu.
- Nangona kungekho nyango lwe-PROS, iimpawu zinokulawulwa kakuhle ngotyando namayeza.
- Kubaluleke kakhulu ukuthetha ngokukhululekileyo nangokuthe rhoqo nogqirha wakho malunga nazo naziphi na iingxaki okanye uloyiko onalo malunga nemeko yomntwana wakho, unyango lwakhe kunye nekamva lakhe.
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