Wake waphawula ukuthi omunye wemilenze yengane yakho mude kancane kunomunye? Noma ingabe uhlangothi olulodwa lobuso bayo lubonakala lukhulu kunolunye? Ngezinye izikhathi lezi zinto zingaba yinto evamile. Kodwa-ke, ezinye izingane zingase zibe nesimo esingavamile lapho izingxenye zomzimba wazo zinkulu ngendlela engavamile. Namuhla sikhuluma ngezinzuzo zesimo esinjalo. Ungesabi ukubona lokhu, into ebaluleke kakhulu ukukuqonda.
Kalula nje, yiziphi lezi PROS?
I-PROS ingase izwakale iyinkimbinkimbi kancane. Igama layo eliphelele yi-
PIK3CA-Related Overgrowth Spectrum . Kalula nje, i-PROS ayisona isifo esisodwa. Iyiqembu lezimo ezingavamile, ezihlobene ezibangela ukuba izingxenye zomzimba zikhule kakhulu noma ngendlela engavamile. Njengoba nje kunemibala eminingi ku-rainbow, kunezimo eziningi ezahlukene ngaphansi kwesambulela se-PROS. Into eyodwa zonke lezi zimo ezifanayo ukuthi zibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-'PIK3CA' emzimbeni. Lokhu
akulona iphutha lomuntu . Lolu ushintsho lwezakhi zofuzo olungahleliwe olwenzeka ngemva kokuba umntwana ekhulelwe esibelethweni.
Into ebalulekile ukuthi wonke umuntu one- PROS uhlukile. Izimpawu zomntwana oyedwa zingase zingabi zifanane nezenye ingane. Ngakho-ke isimo somntwana wakho sihlukile.
Kunezici eziningana ezivamile ezivame ukubonakala ezimweni ze-PROS. Ake sibheke ukuthi ziyini.
| Isibonakaliso | Incazelo elula |
|---|
| Ukwandiswa kwezingxenye zomzimba | Ukukhula okungajwayelekile kwengxenye eyodwa noma ngaphezulu yomzimba, njengengalo, umlenze, noma umunwe. |
| Izinguquko zobuchopho | Ezinye izingane zinobuchopho obukhulu noma ingxenye yobuchopho. |
| Amaqhubu anamafutha | Ukwakheka kwezimila ezinamafutha ezingxenyeni ezahlukene zomzimba, ikakhulukazi ezindaweni ezifana nesisu. |
| Izinguquko emathanjeni | Izimo ezinjengokukhubazeka kwamathambo kanye ne-scoliosis. |
| Izinguquko zeminwe | Iminwe noma izinzwane ezinde ngendlela engavamile, ezikhulisiwe, noma ezihlanganisiwe. |
| Amabala esikhumba | Amabala amnyama esikhumbeni noma amabala amabi kwezinye izindawo. |
| Izinkinga zemithambo yegazi | Ukukhula okungavamile kwemithambo yegazi (ukukhubazeka kwemithambo yegazi), okungandisa ingozi yokuqhekeka kwegazi. |
| Ezinye izici | Ukuqina kwemisipha, ukuxhuzula, kanye nokubambezeleka kokufunda noma ukukhula kwengqondo. |
Izinhlobo ezahlukene ze-PROS kanye nezici zazo
Odokotela bahlukanisa izimo ze-PROS ngokusekelwe ezimpawini eziboniswa yingane. Ake sibheke ezinye zezinhlobo eziyinhloko kanye nezici zazo.
Isifo se-CLOVES
Izingane ezinalesi simo zingase zibe noshintsho emithanjeni yegazi olubonakala njengamabala amnyama esikhumbeni kanye neminwe engavamile lapho zizalwa.
Ezinye izimpawu ze-CLOVES syndrome
| Amantongomane anamafutha | Ukwakheka kwezimila ezenziwe ngamafutha emzimbeni. |
| Izinguquko zesikhumba | Amabala esikhumba noma ukukhula kwesikhumba. |
| Izinguquko zethambo | Izimo ezifana ne-scoliosis. |
| Izinguquko ezithweni zomzimba | Iminwe ekhulisiwe, ukukhula okungalingani kwezingalo. |
| Izinkinga zezinso | Inso eyodwa ayikho noma incane. |
Lesi simo sithinta ubuchopho nezinye izingxenye eziningi zomzimba. Izingane eziningi ezine-MCAP zizalwa zinekhanda elikhulu ngokungavamile. Ikhanda lingakhula ngokushesha ngonyaka wokuqala wokuphila.
Izimpawu ze-MCAP syndrome
| Ukukhulisa ubuchopho | Ukwandiswa kobuchopho bonke noma ingxenye eyodwa yobuchopho. |
| Izinguquko zobuso | Izihlathi nezindebe ezigcwele. |
| Ukushintsha kombala wesikhumba | Izinguquko ekubukekeni kwesikhumba (ikakhulukazi ebusweni) ngenxa yezinguquko emithanjeni yegazi emincane (ama-capillaries). |
| Ubuthakathaka bemisipha | Ukuncipha kokuqina kwemisipha yomzimba. |
| Ezinye izici | Ukuquleka, ukukhubazeka kwengqondo, ukubambezeleka kokukhuluma, ukubhoboka noma ukuba neminwe eyengeziwe, ukugoba kwamalunga ngokweqile, kanye nokushintsha kwenhliziyo. |
I-Hemimegalencephaly
Lesi simo sithinta kakhulu uhlangothi olulodwa lobuchopho. Singavela sodwa noma kanye nezinye izifo.
Izimpawu eziyinhloko: izinguquko ohlangothini olulodwa lobuchopho, ikhanda elikhulu nelingalingani, ukuxhuzula , ukukhubazeka okuyingxenye kolunye uhlangothi lomzimba, kanye nokubambezeleka kokukhula.
I-Lipomatosis Engena Ebusweni
Isici esiyinhloko salokhu ukuthi uhlangothi olulodwa lobuso lukhulu kunolunye.
Ezinye izimpawu: izimila ezingezona ezomdlavuza ezakheka ezicutshini zemizwa (ikakhulukazi olimini noma ezindebeni), ulimi olukhulisiwe, amathambo obuso akhulisiwe, kanye nokuqhuma kwamazinyo ahlala njalo ekuqaleni.
Ungasiphatha kanjani lesi simo?
IZINHLE zingaba zimbi ngokuhamba kwesikhathi. Kuye ngezingxenye zomzimba ezithintekile, ingane yakho ingase ibe nobunzima bokuhamba nokwenza imisebenzi yansuku zonke. Kodwa
izindaba ezinhle ukuthi kunezindlela zokwelapha ezingasiza ekuphatheni lesi simo futhi zenze impilo yengane yakho ibe lula. Lokhu akuyona into okufanele ubhekane nayo wedwa. Kubalulekile ukusebenza
nodokotela wengane yakho kanye nabanye ochwepheshe (isibonelo, uchwepheshe wamathambo, udokotela wezinzwa) ukuze nixoxe futhi niqonde ukuthi yiziphi izindlela zokwelapha ezilungele ingane yakho. Ngezinye izikhathi, izimpawu zingalawulwa ngezinto ezifana nokuhlinzwa, imithi, noma i-physiotherapy.
Umlayezo Wokuya Nawe Ekhaya
- IZINHLE akusona isifo esisodwa, kodwa iqoqo lezimo eziningana ezingavamile lapho izingxenye zomzimba zikhula khona ngendlela engavamile.
- Lesi simo senzeka ngenxa yoshintsho lwezakhi zofuzo, hhayi ngenxa yephutha labazali.
- Ingane ngayinye ene-PROS ihlukile. Izimpawu zingahluka kakhulu kusuka kwengane eyodwa kuya kwenye.
- Uma ubona noma yikuphi ukungalingani, ukukhula okungavamile, noma ezinye izici ezisolisayo kunoma iyiphi ingxenye yomzimba wengane yakho, khuluma nodokotela wakho ngokushesha .
- Nakuba lesi simo singelapheki ngokuphelele, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zithuthukise ikhwalithi yempilo yengane.
IZINZUZO, i-PIK3CA, i-overgrowth syndrome, i-CLOVES syndrome, i-MCAP, izingane, izifo zofuzo
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho