Ngaba wakha waphawula ukuba omnye wemilenze yomntwana wakho mde kancinci kunomnye? Okanye ngaba elinye icala lobuso bakhe libonakala likhulu kunomnye? Ngamanye amaxesha ezi zinto zinokuba zesiqhelo. Nangona kunjalo, abanye abantwana banokuba nesifo esingaqhelekanga apho amalungu omzimba wabo makhulu ngokungaqhelekanga. Namhlanje sithetha ngezibonelelo zesimo esinjalo. Musa ukoyika ukukubona oku, eyona nto ibalulekileyo kukuqonda.
Ngamafutshane, zithini ezi PROS?
I-PROS isenokuvakala iyinkimbinkimbi kancinci. Igama layo elipheleleyo yi
-PIK3CA-Related Overgrowth Spectrum . Ngamafutshane, i-PROS ayisosifo sithile. Liqela leemeko ezingaqhelekanga, ezinxulumeneyo ezibangela ukuba amalungu omzimba akhule kakhulu okanye ngendlela engaqhelekanga. Njengokuba kukho imibala emininzi kumnyama, kukho iimeko ezininzi ezahlukeneyo phantsi kwesambulela se-PROS. Into enye efanayo ngazo zonke ezi meko kukuba zibangelwa kukuguquka kwejini ebizwa ngokuba yi-'PIK3CA' emzimbeni. Oku
akuyongxaki yomntu . Olu lutshintsho olungaqhelekanga lwejini olwenzeka emva kokuba umntwana ekhulelwe esibelekweni.
Into ebalulekileyo kukuba wonke umntu one- PROS wahlukile. Iimpawu zomntwana omnye zisenokungafani nezomnye. Ngoko ke imeko yomntwana wakho yahlukile.
Kukho iimpawu ezininzi eziqhelekileyo eziqhele ukubonwa kwiimeko ze-PROS. Makhe sijonge ukuba ziyintoni na.
| Uphawu | Ingcaciso elula |
|---|
| Ukwandiswa kwamalungu omzimba | Ukwanda okungaqhelekanga kwelungu elinye okanye ngaphezulu lomzimba, njengengalo, umlenze, okanye umnwe. |
| Utshintsho lobuchopho | Abanye abantwana banengqondo ekhulisiweyo okanye isiqingatha sengqondo. |
| Amaqhuma anamafutha | Ukwakheka kweethumba ezinamafutha kwiindawo ezahlukeneyo zomzimba, ingakumbi kwiindawo ezifana nesisu. |
| Utshintsho emathanjeni | Iimeko ezinje ngokukhubazeka kwamathambo kunye ne-scoliosis. |
| Utshintsho lweminwe | Iminwe okanye iinzwane ezinde ngokungaqhelekanga, ezikhulisiweyo, okanye ezidityanisiweyo. |
| Amabala esikhumba | Amabala amnyama eluswini okanye amabala arhabaxa kwezinye iindawo. |
| Iingxaki zemithambo yegazi | Ukukhula okungaqhelekanga kwemithambo yegazi (ukungasebenzi kakuhle kwemithambo yegazi), okunokunyusa umngcipheko wokuqhekeka kwegazi. |
| Ezinye iimpawu | Umzimba ophantsi, ukuxhuzula, kunye nokulibaziseka ekufundeni okanye ekuphuhliseni ingqondo. |
Iintlobo ezahlukeneyo ze-PROS kunye neempawu zazo
Oogqirha bahlulahlula iimeko ze-PROS ngokweempawu umntwana azibonisayo. Makhe sijonge ezinye zezona ntlobo ziphambili kunye neempawu zazo.
isifo se-CLOVES
Abantwana abanale meko banokuba notshintsho kwimithambo yegazi olubonakala njengamabala amnyama eluswini kunye neminwe engaqhelekanga xa bezalwa.
Ezinye iimpawu ze-CLOVES syndrome
| Amantongomane anamafutha | Ukwakheka kweethumba ezenziwe ngamafutha emzimbeni. |
| Utshintsho lolusu | Amabala esikhumba okanye ukukhula kwesikhumba. |
| Utshintsho lwethambo | Iimeko ezinje nge-scoliosis. |
| Utshintsho kwimilenze | Iminwe emikhulu, ukukhula okungalinganiyo kwamalungu. |
| Iingxaki zezintso | Intso enye ayikho okanye incinci. |
Le meko ichaphazela ingqondo kunye nezinye iindawo ezininzi zomzimba. Abantwana abaninzi abane-MCAP bazalwa benentloko enkulu ngokungaqhelekanga. Intloko inokukhula ngokukhawuleza kunyaka wokuqala wobomi.
Iimpawu ze-MCAP syndrome
| Ukwandiswa kwengqondo | Ukwandiswa kwengqondo yonke okanye isiqingatha sobuchopho. |
| Utshintsho lobuso | Izidlele ezigcweleyo kunye nemilebe. |
| Ukutshintsha kombala wolusu | Utshintsho kwinkangeleko yolusu (ingakumbi ebusweni) ngenxa yotshintsho kwimithambo yegazi emincinci (ii-capillaries). |
| Ubuthathaka bemisipha | Ukuncipha kokuqina kwezihlunu zomzimba. |
| Ezinye iimpawu | Ukuxhuzula, ukukhubazeka kwengqondo, ukulibaziseka kokuthetha, ukuxhuzula okanye ukuba neminwe engaphezulu, ukujijeka kwamalungu kakhulu, kunye notshintsho lwentliziyo. |
I-Hemimegalencephaly
Le meko ichaphazela kakhulu icala elinye lobuchopho. Ingenzeka yodwa okanye kunye nezinye izifo.
Iimpawu eziphambili: utshintsho kwelinye icala lobuchopho, intloko enkulu nengalinganiyo, ukuxhuzula , ukukhubazeka okuncinci kwelinye icala lomzimba, kunye nokulibaziseka kokukhula.
I-Lipomatosis Engena Ebusweni
Uphawu oluphambili lwale nto kukuba icala elinye lobuso likhulu kunelinye.
Ungayilawula njani le meko?
IINGXAKI zinokuba mandundu ngokuhamba kwexesha. Ngokuxhomekeke kwiindawo zomzimba ezichaphazelekileyo, umntwana wakho unokuba nobunzima bokuhamba nokwenza imisebenzi yemihla ngemihla. Kodwa
iindaba ezimnandi zezokuba kukho unyango olunokunceda ukulawula imeko kwaye lwenze ubomi bomntwana wakho bube lula. Le asinto ekufuneka ujongane nayo wedwa. Kubalulekile ukusebenzisana
nogqirha womntwana wakho kunye nezinye iingcali (umzekelo, ingcali yamathambo, ingcali yemithambo-luvo) ukuze nixoxe kwaye niqonde ukuba zeziphi iindlela zonyango ezilungele umntwana wakho. Ngamanye amaxesha, iimpawu zinokulawulwa ngezinto ezifana notyando, amayeza, okanye i-physiotherapy.
Umyalezo Wokuya Ekhaya
- I-PROS ayisosifo esinye, kodwa yingqokelela yeemeko ezininzi ezingaqhelekanga apho amalungu omzimba akhula ngendlela engaqhelekanga.
- Le meko yenzeka ngenxa yotshintsho lwemfuza, kungekhona ngenxa yempazamo yabazali.
- Wonke umntwana one-PROS wahlukile. Iimpawu zinokwahluka kakhulu ukusuka komnye umntwana ukuya komnye.
- Ukuba ubona naluphi na ukungalingani, ukukhula okungaqhelekanga, okanye ezinye iimpawu ezingaqondakaliyo nakweyiphi na inxalenye yomzimba womntwana wakho, thetha nogqirha wakho ngoko nangoko .
- Nangona le meko ingenakunyangwa ngokupheleleyo, kukho unyango olunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi bomntwana.
IINGXELO EZILUNGILEYO, I-PIK3CA, isifo sokukhula ngokugqithisileyo, isifo se-CLOVES, i-MCAP, izifo zabantwana, izifo zemfuza
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