Teko ea liphatsa tsa lefutso ea PTEN

Litaba

• Teko ea liphatsa tsa lefutso ea PTEN ke eng?
• E sebelisetsoa eng?
• Hobaneng ha ke hloka tlhahlobo ea liphatsa tsa lefutso tsa PTEN?
• Ho etsahalang nakong ea tlhahlobo ea liphatsa tsa lefutso tsa PTEN?
• Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo?
• Na ho na le likotsi tsa tlhahlobo?
• Liphetho li bolelang?
• Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea liphatsa tsa lefutso ea PTEN?
• Litšupiso

Teko ea liphatsa tsa lefutso ea PTEN ke eng?

Tlhahlobo ea liphatsa tsa lefutso ea PTEN e batla phetoho, e tsejoang e le phetoho, liphatseng tsa lefutso tse bitsoang PTEN. Liphatsa tsa lefutso ke likarolo tsa mantlha tsa lefutso tse fetisitsoeng ho tsoa ho mme le ntate oa hau.

Phatsa ea PTEN e thusa ho emisa kholo ea lihlahala. E tsejoa e le khatello ea hlahala. Lefu la khatello ea hlahala le joalo ka mariki koloing. E beha "mariki" liseleng, kahoo ha li arohane kapele haholo. Haeba u na le phetoho ea PTEN ea liphatsa tsa lefutso, e ka baka kholo ea lihlahala tse se nang mofetše tse bitsoang hamartomas. Hamartomas e ka hlaha hohle 'meleng. Phetoho e ka lebisa ho nts'etsopele ea lihlahala tse nang le mofetše.

Phetoho ea liphatsa tsa lefutso ea PTEN e ka futsetsoa ho batsoali ba hau, kapa ea fumanoa hamorao bophelong ho tsoa tikolohong kapa phosong e etsahalang 'meleng oa hau nakong ea karohano ea sele.

Phetoho ea lefa la PTEN e ka baka mathata a fapaneng a bophelo bo botle. Tse ling tsa tsona li ka qala boseeng kapa bongoaneng. Ba bang ba itlhahisa ha ba se ba le baholo. Mathata ana a atisa ho bokelloa 'me a bitsoa PTEN hamartoma syndrome (PTHS) mme a kenyeletsa:

• Cowden lefu, boloetse bo bakang kholo ea li-hamartomas tse ngata mme bo eketsa menyetla ea mefuta e 'maloa ea mofetše, ho kenyeletsoa mofetše oa sefuba, popelo, qoqotho le kolone. Batho ba nang le lefu la Cowden hangata ba na le hlooho e kholo ho feta e tloaelehileng (macrocephaly), tieho ea kholo, le / kapa autism.
• Bannayan-Riley-Ruvalcaba lefu hape e baka hamartomas le macrocephaly. Ntle le moo, batho ba nang le lefu lena ba ka ba le mathata a ho ithuta le / kapa autism. Banna ba nang le bothata bona hangata ba na le mabala a lefifi botoneng.
• Proteus kapa lefu le kang la Proteus e ka baka kholo ea masapo, letlalo le lisele tse ling, hammoho le hamartomas le macrocephaly.

E fumanoeng (e tsejoang hape e le somatic) PTEN liphetoho tsa liphatsa tsa lefutso ke e 'ngoe ea liphetoho tse atisang ho fumanoa kankere ea motho. Liphetoho tsena li fumanoe mefuteng e fapaneng ea mofets'e, ho kenyeletsoa mofetše oa senya, mofetše oa popelo le mefuta e meng ea lihlahala tsa bokong.

Mabitso a mang: PTEN gene, tlhahlobo e felletseng ea liphatsa tsa lefutso; Ho latellana ha PTEN le ho hlakola / ho pheta-pheta

E sebelisetsoa eng?

Teko e sebelisetsoa ho batla phetoho ea liphatsa tsa lefutso tsa PTEN. Ha se teko e tloaelehileng. Hangata e fuoa batho ho latela nalane ea lelapa, matšoao, kapa tlhahlobo ea mofetše e fetileng, haholo-holo mofetše oa sefuba, qoqotho kapa popelo.

Hobaneng ha ke hloka tlhahlobo ea liphatsa tsa lefutso tsa PTEN?

Uena kapa ngoana oa hau le kanna la hloka tlhahlobo ea liphatsa tsa lefutso tsa PTEN haeba le na le nalane ea lelapa ea phetoho ea lefutso ea PTEN le / kapa e le 'ngoe kapa tse ling tsa maemo kapa matšoao a latelang:

• Multiple hamartomas, haholo-holo sebakeng sa masapo
• Macrocephaly (e kholo ho feta hlooho e tloaelehileng)
• Ho lieha ho ntlafatsa
• Autism
• Ho pherekano ho lefifi ha botona ho banna
• Kankere ea matsoele
• Kankere ea qoqotho
• Kankere ea popelo ho basali

Haeba u fumanoe u na le mofetše mme u se na nalane ea lelapa la lefu lena, mofani oa tlhokomelo ea bophelo ba hau a ka laela tlhahlobo ena ho bona hore na phetoho ea liphatsa tsa lefutso ea PTEN e kanna ea baka mofetše oa hau. Ho tseba hore na o na le phetoho ho ka thusa mofani oa hau ho bolela esale pele hore na lefu la hau le tla hlaha joang le ho tataisa kalafo ea hau.

Ho etsahalang nakong ea tlhahlobo ea liphatsa tsa lefutso tsa PTEN?

Teko ea PTEN hangata ke tlhahlobo ea mali. Nakong ea tlhahlobo ea mali, setsebi sa tlhokomelo ea bophelo se tla nka sampole ea mali mothapong o letsohong la hao, a sebelisa nale e nyane. Kamora hore nalete e kenngoe, ho tla bokelloa mali a manyane ka har'a pompo ea liteko. U ka ikutloa u hlaba hanyane ha nale e kena kapa e tsoa. Hangata hona ho nka nako e ka tlase ho metsotso e mehlano.

Na ke tla hloka ho etsa eng kapa eng ho itokisetsa tlhahlobo?

Hangata ha o hloke litokisetso tse khethehileng bakeng sa tlhahlobo ea PTEN.

Na ho na le likotsi tsa tlhahlobo?

Ho na le kotsi e nyane haholo ea ho etsa tlhahlobo ea mali. U kanna oa ba le mahlaba a fokolang kapa ho longoa moo nale e kentsoeng teng, empa matšoao a mangata a fela kapele.

Liphetho li bolelang?

Haeba liphetho tsa hau li bontša hore u na le phetoho ea PTEN, ha ho bolele hore u na le mofetše, empa kotsi ea hau e phahame ho feta batho ba bangata. Empa ho hlahlojoa hangata ha mofets'e ho ka fokotsa kotsi ea hau. Kankere e ka phekoleha ha e fumanoa mekhahlelong ea pele. Haeba u fetohile, mofani oa hao oa tlhokomelo ea bophelo a ka khothaletsa e le 'ngoe kapa tse' maloa tsa liteko tse latelang tsa tlhahlobo.

• Colonoscopy, ho qala ka lilemo tse 35-40
• Mammogram, ho qala ha a le lilemo li 30 bakeng sa basali
• Ho itlhahloba matsoele khoeli le khoeli bakeng sa basali
• Ho hlahloba basali ka selemo le selemo ka popelo
• Ho hlahloba selemo le selemo qoqotho
• Cheke ea selemo le selemo ea letlalo
• Ho hlahloba liphio selemo le selemo

Selemo le selemo ho hlahlojoa ha qoqotho le letlalo ho boetse ho khothaletsoa bana ba nang le phetoho ea liphatsa tsa lefutso tsa PTEN.

Ithute haholoanyane ka liteko tsa laboratori, libaka tsa litšupiso, le liphetho tsa kutloisiso.

Na ho na le eng kapa eng eo ke hlokang ho e tseba ka tlhahlobo ea liphatsa tsa lefutso ea PTEN?

Haeba u fumanoe u e-na le phetoho ea liphatsa tsa lefutso tsa PTEN kapa u nahana ka ho ea hlahlojoa, ho ka thusa ho bua le moeletsi oa liphatsa tsa lefutso. Moeletsi oa liphatsa tsa lefutso ke setsebi se koetlisitsoeng ka ho khetheha liphatseng tsa lefutso le liteko tsa lefutso. Haeba ha u e-so hlahlojoe, moeletsi a ka u thusa ho utloisisa likotsi le melemo ea tlhahlobo. Haeba o lekile, moeletsi a ka u thusa ho utloisisa litholoana le ho u tataisetsa ts'ehetsong ea lits'ebeletso le lisebelisoa tse ling.

Litšupiso

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Tlhahisoleseling e fumanehang sebakeng sena sa marang-rang ha ea lokela ho sebelisoa ho nka sebaka sa tlhokomelo ea bongaka le likeletso. Ikopanye le mofani oa tlhokomelo ea bophelo haeba u na le lipotso ka bophelo ba hau.