Ukuhlolwa kofuzo lwe-PTEN

-Delile

• Kuyini ukuhlolwa kofuzo kwe-PTEN?
• Kusetshenziselwa ini?
• Kungani ngidinga ukuhlolwa kofuzo kwe-PTEN?
• Kwenzekani ngesikhathi sokuhlolwa kofuzo kwe-PTEN?
• Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?
• Ingabe zikhona izingozi esivivinyweni?
• Isho ukuthini imiphumela?
• Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kofuzo kwe-PTEN?
• Izinkomba

Kuyini ukuhlolwa kofuzo kwe-PTEN?

Ukuhlolwa kwezakhi zofuzo kwe-PTEN kubheka ushintsho, olwaziwa ngokuthi i-mutation, kufuzo olubizwa nge-PTEN. Izakhi zofuzo yizingxenye eziyisisekelo zofuzo ezedluliswa zivela kumama nobaba wakho.

Uhlobo lwe-PTEN lusiza ukunqanda ukukhula kwezimila. Kuyaziwa njengesicindezeli se-tumor. Isakhi sofuzo sokucindezela isimila sifana namabhuleki emotweni. Ibeka "amabhuleki" kumaseli, ukuze angahlukani ngokushesha okukhulu. Uma unokuguqulwa kwezakhi zofuzo kwe-PTEN, kungadala ukukhula kwezimila ezingenalo umdlavuza ezibizwa ngokuthi i-hamartomas. IHamartomas ingabonakala emzimbeni wonke. Ukuguqulwa komzimba kungaholela nasekukhuleni kwezicubu ezinomdlavuza.

Ukuguqulwa kwezakhi zofuzo kwe-PTEN kungazuzwa njengefa kubazali bakho, noma kutholwe kamuva empilweni kusuka emvelweni noma ephutheni elenzeka emzimbeni wakho ngesikhathi sokuhlukaniswa kwamaseli.

Ukuguqulwa kwe-PTEN okuzuzwe njengefa kungadala ukuphazamiseka okuhlukahlukene kwezempilo. Ezinye zazo zingaqala zisencane noma zisencane. Abanye bavela lapho sebekhulile. Lezi zinkinga zivame ukuqoqwa ndawonye futhi zibizwe nge-PTEN hamartoma syndrome (PTHS) futhi zifaka:

• I-Cowden syndrome, ukuphazamiseka okubangela ukukhula kwama-hamartomas amaningi futhi kwandisa ubungozi bezinhlobo eziningana zomdlavuza, kufaka phakathi umdlavuza webele, wesibeletho, we-thyroid nowekoloni. Abantu abane-Cowden syndrome bavame ukuba nenhloko enkulu kunejwayelekile (macrocephaly), ukubambezeleka kwentuthuko, kanye / noma i-autism.
• I-Bannayan-Riley-Ruvalcaba syndrome futhi kubangela i-hamartomas ne-macrocephaly. Ngaphezu kwalokho, abantu abanalesi sifo bangakhubazeka ekufundeni kanye / noma i-autism. Abesilisa abanalesi sifo bavame ukuba namachashaza amnyama endondeni.
• I-Proteus noma i-Proteus-like syndrome kungadala ukugcwala kwamathambo, isikhumba, nezinye izicubu, kanye ne-hamartomas ne-macrocephaly.

Kutholakale (okwaziwa nangokuthi yi-somatic) Ukuguqulwa kwezakhi zofuzo kwe-PTEN kungenye yezinguquko ezivamile ezitholakala kumdlavuza womuntu. Lezi zinguquko zitholakale ezinhlotsheni eziningi zomdlavuza, kufaka phakathi umdlavuza we-prostate, umdlavuza wesibeletho, nezinye izinhlobo zezicubu zobuchopho.

Amanye amagama: Isakhi sofuzo se-PTEN, ukuhlaziywa okugcwele kofuzo; Ukulandelana kwe-PTEN nokususa / ukuphinda

Kusetshenziselwa ini?

Ukuhlolwa kusetshenziselwa ukubheka ukuguqulwa kwezakhi zofuzo ze-PTEN. Akusona isivivinyo esijwayelekile. Imvamisa inikezwa abantu ngokuya ngomlando womndeni, izimpawu, noma ukuxilongwa komdlavuza kwangaphambilini, ikakhulukazi umdlavuza webele, wegilo noma wesibeletho.

Kungani ngidinga ukuhlolwa kofuzo kwe-PTEN?

Wena noma ingane yakho ningadinga ukuhlolwa kofuzo kwe-PTEN uma ninomlando womndeni wokuguqulwa kwezakhi zofuzo kwe-PTEN kanye / noma eyodwa noma ngaphezulu yalezi zimo noma izimpawu ezilandelayo:

• Ama-hamartomas amaningi, ikakhulukazi endaweni yamathumbu
• IMacrocephaly (inkulu kunekhanda elijwayelekile)
• Ukubambezeleka kwentuthuko
• I-Autism
• Ukudlikizela okumnyama kwepipi emadodeni
• Umdlavuza webele
• Umdlavuza wegilo
• Umdlavuza wesibeletho kwabesifazane

Uma utholwe unomdlavuza futhi ungenawo umlando womndeni waleso sifo, umhlinzeki wakho wezokunakekelwa kwempilo anga-oda lokhu kuhlolwa ukuze ubone ukuthi ukuguqulwa kwezakhi zofuzo kwe-PTEN kungadala umdlavuza wakho. Ukwazi ukuthi unalo yini uguquko kungasiza umhlinzeki wakho abikezele ukuthi isifo sakho sizokhula kanjani futhi siqondise ukwelashwa kwakho.

Kwenzekani ngesikhathi sokuhlolwa kofuzo kwe-PTEN?

Ukuhlolwa kwe-PTEN kuvamise ukuhlolwa kwegazi. Ngesikhathi sokuhlolwa kwegazi, uchwepheshe wezokunakekelwa kwempilo uzothatha isampuli yegazi emthanjeni osengalweni yakho, esebenzisa inaliti encane. Ngemuva kokuthi kufakwe inaliti, kuzoqoqwa inani elincane legazi kufakwe ithubhu yokuhlola noma isitsha. Ungase uzizwe uluma kancane lapho inaliti ingena noma iphuma. Lokhu ngokuvamile kuthatha imizuzu engaphansi kwemihlanu.

Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?

Imvamisa awudingi amalungiselelo akhethekile wokuhlolwa kwe-PTEN.

Ingabe zikhona izingozi esivivinyweni?

Kunengozi encane kakhulu yokuhlolwa kwegazi. Ungaba nobuhlungu obuncane noma ukulimaza lapho kufakwe khona inaliti, kepha izimpawu eziningi ziyaphela ngokushesha.

Isho ukuthini imiphumela?

Uma imiphumela yakho ikhombisa ukuthi unokuguquka kwezakhi zofuzo kwe-PTEN, akusho ukuthi unomdlavuza, kepha ingozi yakho iphakeme kunabantu abaningi. Kodwa ukuhlolwa kaningi komdlavuza kunganciphisa ubungozi bakho. Umdlavuza uyelapheka uma utholakala kusaqalwa. Uma uguqukile, umhlinzeki wakho wezokunakekelwa kwempilo angancoma esisodwa noma eziningi zalezi zivivinyo zokuhlola ezilandelayo:

• IColonoscopy, eqala eminyakeni yobudala engama-35-40
• I-Mammogram, eqala eneminyaka engama-30 yabesifazane
• Ukuzivivinya amabele kwanyanga zonke kwabesifazane
• Ukuhlolwa kwesibeletho minyaka yonke kwabesifazane
• Ukuhlolwa kwegilo minyaka yonke
• Isheke lonyaka lesikhumba ukuthola ukukhula
• Ukuhlolwa kwezinso minyaka yonke

Ukunconywa minyaka yonke nokuhlolwa kwesikhumba futhi kunconyelwa izingane ezinezakhi zofuzo ze-PTEN.

Funda kabanzi mayelana nokuhlolwa kwelabhorethri, ububanzi bezinkomba, nemiphumela yokuqonda.

Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kofuzo kwe-PTEN?

Uma utholwe une-PTEN genetic mutation noma ucabanga ngokuhlolwa, kungasiza ukukhuluma nomeluleki wezofuzo. Umeluleki wezofuzo uchwepheshe oqeqeshwe ngokukhethekile kwezofuzo nasekuhloleni izakhi zofuzo. Uma ungakahlolwa, umeluleki angakusiza uqonde ubungozi nezinzuzo zokuhlolwa. Uma uhloliwe, umeluleki angakusiza uqonde imiphumela futhi akuqondise ekusekeleni izinsizakalo nezinye izinsiza.

Izinkomba

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Imininingwane ekulesi siza akufanele isetshenziswe esikhundleni sezokunakekelwa kwezokwelapha noma iseluleko. Xhumana nomhlinzeki wezempilo uma unemibuzo ngempilo yakho.