Uvavanyo lwe-PTEN yemfuzo

Umxholo

• Yintoni uvavanyo lwe-PTEN yemfuza?
• Isetyenziselwa ntoni?
• Kutheni ndifuna uvavanyo lwe-PTEN yemfuza?
• Kwenzeka ntoni ngexesha lovavanyo lwemfuza lwe-PTEN?
• Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?
• Ngaba bukhona ubungozi kuvavanyo?
• Zithetha ntoni iziphumo?
• Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwemfuza lwe-PTEN?
• Izalathiso

Yintoni uvavanyo lwe-PTEN yemfuza?

Uvavanyo lwe-PTEN yemfuza lukhangela utshintsho, olwaziwa njengoguquko, kwimfuza ebizwa ngokuba yi-PTEN. Imfuza zizinto zokuqala ezisisiseko zofuzo ezidluliselwe zivela kunyoko nakuyihlo.

Uhlobo lwe-PTEN linceda ukumisa ukukhula kwamathumba. Yaziwa ngokuba sisicinezeli sethumba. Uhlobo lwesisu sokucinezelwa kwethumba lufana neziqhoboshi kwimoto. Ibeka "iibhuleki" kwiiseli, ukuze zingazahluli ngokukhawuleza. Ukuba une-PTEN yemfuza, oko kunokubangela ukukhula kwamathumba angenamhlaza abizwa ngokuba yihamartomas. IHamartomas inokubonisa kuwo wonke umzimba. Ukutshintsha kunokukhokelela kuphuhliso lwezidumbu ezinomhlaza.

Uguquko lwe-PTEN yemfuzo lunokufunyanwa kubazali bakho, okanye lufunyenwe kamva ebomini kwindalo esingqongileyo okanye kwimpazamo eyenzeka emzimbeni wakho ngexesha lokwahlukana kweseli.

Uguquko lwe-PTEN elizuzwe njengelifa kunokubangela ukuphazamiseka kwempilo. Ezinye zezi zinto zinokuqala kwasebusaneni okanye ebuntwaneni. Abanye babonakalisa ebudaleni. Ezi ngxaki zihlala zidityanisiwe kwaye zibizwa ngokuba yi-PTEN hamartoma syndrome (PTHS) kwaye zibandakanya:

• Isifo seCowden, Ukuphazamiseka okubangela ukukhula kwe-hamartomas ezininzi kunye nokwandisa umngcipheko weentlobo ezahlukeneyo zomhlaza, kubandakanya umhlaza webele, isibeleko, idlala lengqula kunye nekholoni. Abantu abane-Cowden syndrome bahlala benentloko enkulu kune-macrocephaly), ukulibaziseka kophuhliso, kunye / okanye i-autism.
• Isifo seBannayan-Riley-Ruvalcaba ikwabangela iihamartomas kunye ne-macrocephaly. Ukongeza, abantu abanesi sifo banokuba nokukhubazeka ekufundeni kunye / okanye i-autism. Amadoda aneengxaki ahlala enamabala amnyama kwilungu lobudoda.
• IProteus okanye iProteus-like syndrome kunokubangela ukwanda kwamathambo, ulusu, kunye nezinye izicwili, kunye nehamartomas kunye ne-macrocephaly.

Ukufunyanwa (okwaziwa nangokuthi yi-somatic) i-PTEN i-genetic mutations yenye yeenguqu ezifumaneka kumhlaza womntu. Olu tshintsho lufunyenwe kwiindidi ezahlukeneyo zomhlaza, kubandakanya umhlaza wedlala lobudoda, umhlaza wesibeleko, kunye nezinye iintlobo zamathumba obuchopho.

Amanye amagama: Uhlobo lwe-PTEN, uhlalutyo lwemfuza olupheleleyo; Ulandelelwano lwe-PTEN kunye nokususa / ukuphinda kabini

Isetyenziselwa ntoni?

Uvavanyo lusetyenziselwa ukujonga utshintsho lwe-PTEN. Ayiluvavanyo oluqhelekileyo. Ihlala inikwa abantu ngokusekwe kwimbali yosapho, iimpawu, okanye ukuxilongwa kwangaphambili komhlaza, ngakumbi umhlaza webele, idlala lengqula, okanye isibeleko.

Kutheni ndifuna uvavanyo lwe-PTEN yemfuza?

Wena okanye umntwana wakho unokufuna uvavanyo lwe-PTEN yemfuza ukuba unembali yosapho yokutshintsha kwemfuza ye-PTEN kunye / okanye enye okanye ngaphezulu kwezi meko okanye iimpawu zilandelayo:

• I-hamartomas ezininzi, ngakumbi kwindawo yesisu
• IMacrocephaly (inkulu kunentloko eqhelekileyo)
• Ukulibaziseka kophuhliso
• Autism
• Ukujijitheka okumnyama kwelungu lobudoda emadodeni
• Umhlaza webele
• Umhlaza wedlala lengqula
• Umhlaza wesibeleko kwabasetyhini

Ukuba ufumene ukuba unomdlavuza kwaye ungenayo imbali yentsapho yesifo, umboneleli wakho wezempilo unokuyalela olu vavanyo ukuba ubone ukuba i-PTEN i-genetic mutation ingabangela umdlavuza wakho. Ukwazi ukuba unalo na utshintsho kunokunceda umboneleli wakho aqikelele ukuba isifo sakho siza kukhula njani kwaye sikhokele unyango lwakho.

Kwenzeka ntoni ngexesha lovavanyo lwemfuza lwe-PTEN?

Uvavanyo lwe-PTEN luhlala luvavanyo lwegazi. Ngexesha lokuvavanywa kwegazi, ingcali yokhathalelo lwempilo iya kuthatha isampulu yegazi kumthambo engalweni yakho, usebenzisa inaliti encinci. Emva kokuba inaliti ifakiwe, inani elincinci legazi liya kuqokelelwa kwityhubhu yovavanyo okanye igutyana. Unokuziva uluma kancinci xa inaliti ingena okanye iphuma. Oku kuhlala kuthatha imizuzu engaphantsi kwesihlanu.

Ngaba kuya kufuneka ndenze nantoni na ukulungiselela uvavanyo?

Ngokwesiqhelo awudingi malungiselelo akhethekileyo kuvavanyo lwe-PTEN.

Ngaba bukhona ubungozi kuvavanyo?

Mncinci kakhulu umngcipheko wokuvavanywa kwegazi. Unokuba nentlungu encinci okanye ukrakra kwindawo apho inaliti yafakwa khona, kodwa uninzi lweempawu zihamba ngokukhawuleza.

Zithetha ntoni iziphumo?

Ukuba iziphumo zakho zibonisa ukuba une-PTEN yemfuza, oko akuthethi ukuba unomhlaza, kodwa umngcipheko uphezulu kunabantu abaninzi. Kodwa ukuhlolwa rhoqo komhlaza kunokunciphisa umngcipheko. Umhlaza uyanyangeka xa ufumaneka kumanqanaba okuqala. Ukuba uguqukile, umboneleli wakho wezempilo unokucebisa olunye okanye nangaphezulu kwezi mvavanyo zilandelayo:

• IColonoscopy, ukuqala kubudala beminyaka engama-35-40
• I-Mammogram, ukuqala kwiminyaka engama-30 yabasetyhini
• Ukuzihlola ngokwakho amabele qho ngenyanga kwabafazi
• Ukuvavanywa kwesibeleko minyaka le kwabasetyhini
• Ukuvavanywa kwe-thyroid rhoqo ngonyaka
• Ukuhlolwa konyaka kwesikhumba ukukhula
• Ukuvavanywa kwezintso minyaka le

Unyaka we-thyroid kunye nokuhlolwa kwesikhumba kuyacetyiswa kubantwana abane-PTEN genetic mutation.

Funda ngakumbi malunga novavanyo lwelabhoratri, uluhlu lweereferensi, kunye neziphumo zokuqonda.

Ngaba ikhona enye into endifuna ukuyazi malunga novavanyo lwemfuza lwe-PTEN?

Ukuba uye wafumanisa ukuba une-PTEN genetic mutation okanye ucinga ngokuvavanywa, kunganceda ukuthetha nomcebisi ngemfuzo. Umcebisi ngemfuzo yingcali eqeqeshwe ngokukodwa kwimfuzo novavanyo lwemfuzo. Ukuba awukavavanywa, umcebisi unokukunceda uqonde ubungozi kunye nezibonelelo zovavanyo. Ukuba uvavanyiwe, umcebisi unokukunceda ukuba uqonde iziphumo kwaye akukhokele ekuxhaseni iinkonzo kunye nezinye izixhobo.

Izalathiso

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Ulwazi olukule ndawo akufuneki lusetyenziswe endaweni yonyango okanye iingcebiso. Nxibelelana nomboneleli wezempilo ukuba unemibuzo malunga nempilo yakho.