Wake waphawula ukuthi ingxenye eyodwa yomzimba womntwana wakho, mhlawumbe ingalo, umlenze, noma umunwe, inkulu ngendlela engavamile uma iqhathaniswa neminye imizimba yakhe? Noma wake waphawula into engavamile, njengemvukuzane enkulu esikhumbeni sakhe noma indawo ephithene yemithambo yegazi? Kujwayelekile ukuthi noma yimuphi umzali azizwe ekhathazekile lapho ebona into efana nale. Namuhla sikhuluma ngeqembu lezimo ezingavamile ezingadala lezi zinto. Libizwa ngokuthi i-PROS, noma i-PIK3CA-Related Overgrowth Spectrum.
Ake siqonde kahle ukuthi yiziphi izinzuzo kanye ne-PIK3CA.
Okokuqala, i-PROS ayisona isifo esisodwa. Iyizinhlobo zezimo eziningana ezahlukene. Zonke lezi zimo zinento eyodwa efanayo. Okusho ukuthi, ezinye izingxenye zomzimba ziba zinkulu kakhulu (zikhula ngokweqile) noma zikhule zibe yisimo esingavamile.
Manje ake sibone ukuthi kungani lokhu kwenzeka. Isizathu esiyinhloko salokhu ushintsho, okungukuthi, ukuguquka kwezakhi zofuzo okubizwa ngokuthi `PIK3CA` emzimbeni wethu.
Kalula nje, imizimba yethu ifana nefektri enkulu. Kunesethi yemiyalelo yokuthi konke okukule fektri kumele kwenziwe kahle. `I-PIK3CA` iyi-gene ebalulekile enikeza imiyalelo enjalo. Yiyo etshela amangqamuzana ethu ukuthi, "Kulungile, manje uyahlukana," "Manje uyakhula," "Kulungile, manje isikhathi sakho sesiphelile, shona."
Kodwa-ke, uma incwadi encwadini yemiyalelo yalesi sakhi sofuzo esithi `PIK3CA` ingalungile, okungukuthi, uma kwenzeka ukuguquka, imiyalezo etholwa yilawo maseli iyadideka. Bese amanye amaseli ahlukana ngokushesha kakhulu, noma angafi ngesikhathi esifanele. Yilapho sibona ukukhula ngokweqile ezindaweni lapho lawo maseli ekhona, okungukuthi, ezindaweni ezifana nesikhumba, imithambo yegazi, amathambo, izicubu zamafutha kanye nobuchopho .
Kukhona iphuzu elibaluleke kakhulu okumele ulikhumbule lapha. IZINZUZO akusona isifo esidluliselwa kusuka kumzali kuya enganeni. Lokhu kusho ukuthi uma unalesi sifo, ingane yakho ngeke isithole, futhi uma omunye wezingane zakho enaso, ezinye izingane ngeke zisithole. Lolu shintsho lwezakhi zofuzo aluveli kuwo wonke amaseli omzimba wengane, kodwa luvela kwamanye amaseli kuphela. Ngakho-ke ungesabi lokhu ngokungadingekile.
Izimo zezokwelapha ezahlukahlukene eziba ngaphansi kwe-PROS
Ngezinye izikhathi odokotela bazohlonza ngqo isifo nge-PROS. Ngezinye izikhathi, bazoqamba isimo esithile sezokwelapha (i-syndrome) esiwela ngaphansi kwesambulela se-PROS. Ezinye zalezi zibalwe kuthebula elingezansi.
| Igama lesifo (i-Syndrome) | Izici eziyinhloko kanye nencazelo |
|---|---|
| I-Fibroadadipose hyperplasia | Kulesi simo, ukukhula ngokweqile kwezicubu ezinamafutha, izicubu ezinemicu, noma imithambo yegazi kubangela ukwakheka kwezicubu ezifana namaqhubu ezithweni noma kwezinye izingxenye zomzimba. Ngokuhamba kwesikhathi, lokhu kungakhula futhi kuphazamise ukuhamba nokunyakaza. |
| Isifo se-CLOVES | Leli gama lisuselwa ezinhlamvini zokuqala zezimpawu. C - Ukuzalwa (okukhona kusukela ekuzalweni), L - I-Lipomatous (ehlobene namafutha - izingane eziningi zingabona into efana neqhubu elinamafutha), O - Ukukhula ngokweqile (ukukhula ngokweqile), V - Ukukhubazeka kwemithambo yegazi (imithambo yegazi engavamile - njengezimpawu zokuzalwa, imithambo yesicabucabu), E - I-Epidermal nevus (uhlobo lwe-mole oluvela esikhumbeni), S - Umgogodla/Umgogodla (izinkinga ngomgogodla noma amathambo - isib. ubuhlungu bomhlane). |
| Isifo se-Megalencephaly-capillary malformation (MCAP) | Ubuchopho, imithambo yegazi, kanye nezici zobuso zikhula ngokweqile. Laba bantwana bangase babe nokubambezeleka kokukhula kanye neminwe emile ngendlela engavamile. |
| I-Hemihyperplasia-multiple lipomatosis (HHML) syndrome | Ngokuvamile kuthinta ukukhula kwezingalo nemilenze. Amathumba anamafutha akhula kancane futhi angenabuhlungu (ama-lipoma) akheka ngaphansi kwesikhumba ezingxenyeni ezahlukene zomzimba, ikakhulukazi umhlane, isiqu, izitho, kanye neminwe. |
| I-Hemimegalencephaly | Kulesi simo, ubuchopho bonke noma ingxenye yobuchopho iba nkulu kunokuvamile. Laba bantwana bangase babe nokuquleka, ukukhubazeka, kanye nokubambezeleka kokukhula. |
| I-lipomatosis engenela ebusweni | Ukuvuvukala noma ukukhula okungenabuhlungu engxenyeni yobuso. Lokhu kuvame ukwenzeka ohlangothini olulodwa lwekhanda. Ngezinye izikhathi ingxenye yolimi ingakhula futhi amathambo namazinyo kungathinteka. |
Yiziphi izindlela zokwelapha lokhu?
Akukho ukwelashwa kwe-PROS okwamanje. Kodwa-ke, kunezindlela eziningi zokuphatha lesi simo kanye nezimpawu zaso.
Udokotela wakho uzonquma ukwelashwa okufanele kakhulu kwengane yakho. Uzokwenza lezi zinqumo ngemuva kokuhlola ngokucophelela isimo sengane yakho nokubonisana nochwepheshe abahlukahlukene (isib. odokotela abahlinzayo, odokotela bezinzwa). Nazi ezinye zezindlela zokwelapha eziyinhloko:
- Ukuhlinzwa: Kungase kunconywe ukuhlinzwa ukuze kususwe izicubu ezikhule ngokweqile, ikakhulukazi uma ukukhula kuphazamisa ikhono lengane yakho lokuhamba noma ukwenza imisebenzi yansuku zonke, kubeka ingcindezi ebuchosheni, noma kuyadingeka ukulungisa isimo esifana ne-scoliosis.
- Imithi: Udokotela wakho angase akunike imithi yokulawula izimpawu ezithile, njengokuquleka. Ucwaningo luyaqhubeka ngemithi emisha ehlose ukusebenza kwejini le-PIK3CA.
Lizoba njani ikusasa lengane yami?
Lokhu kungenye yezinto ezikhathazayo kakhulu futhi ezikhathazayo kunoma yimuphi umzali. IZINZUZO yisimo esihlala isikhathi eside. Njengoba izimpawu zihluka kakhulu kumuntu nomuntu, ikusasa lomntwana lingahluka ngokufanele.
Lokhu kusho ukuthi ezinye izingane zingaphila impilo evamile ngaphandle kwemiphumela emibi. Ezinye, ikakhulukazi uma ubuchopho buthintekile, zingase zithole umehluko ekufundeni kanye nokubambezeleka kokukhula.
Ngaphezu kwalokho, kutholakale ukuthi abanye abantu abane-PROS banengozi ethile yokuba nomdlavuza, ngoba lokhu kuguqulwa kwezakhi zofuzo okufanayo kwe-PIK3CA kuyatholakala nasemaseli omdlavuza kubantu abangenayo i-PROS.
Ungesabi lokhu ngokungadingekile. Into ebaluleke kakhulu ukukhuluma ngokukhululekile ngale ngozi nodokotela wakho. Ngemuva kwalokho, ungenza ukuhlolwa okudingekayo ngesikhathi bese ubona ukuthi kukhona yini ingozi yesimo esinjalo. Udokotela wakho uzohlala eqapha isimo sengane yakho futhi anikeze isiqondiso esidingekayo.
Umlayezo Wokuya Nawe Ekhaya
- I-PROS iyiqembu lezimo ezibangelwa ukuguquka kwezakhi zofuzo `PIK3CA`. Lokhu akubangelwa yiphutha labazali.
- Lesi akusona isifo esizuzwa njengefa. Ukuthi nje omunye wezingane zakho unaso akusho ukuthi nezinye izingane nazo zizoba naso.
- Izimpawu zingahluka kakhulu kuye ngengane. Ezinye zingaba nemiphumela emincane, kanti ezinye zingaba nezinkinga ezinkulu.
- Nakuba kungekho ukwelashwa kwe-PROS, izimpawu zingaphathwa kahle kakhulu ngokuhlinzwa nangemithi.
- Kubaluleke kakhulu ukukhuluma ngokukhululekile nangokujwayelekile nodokotela wakho nganoma yikuphi ukukhathazeka noma ukwesaba onakho ngesimo sengane yakho, ukwelashwa kwayo kanye nekusasa layo.
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