Ofuna ebizimba ebitali bya bulijjo ku mubiri gwo? Kino kiyinza okuba obulwadde bwa PTEN Hamartoma Tumor Syndrome (PHTS)!

Wali olabye ebizimba oba ebizimba ebyewuunyisa ku mubiri gwo oba ogw’omuntu mu maka go? Ebimu ku byo biyinza okulabika ng’ebitaliimu kweraliikirira, naye oluusi biyinza okuba obubonero obulaga embeera y’obujjanjabi. Leero, tugenda kwogera ku emu ku mbeera ezo z’osaanidde okweraliikirira.

Obulwadde bwa PTEN Hematoma Tumor Syndrome (PHTS) kye ki?

Mu ngeri ennyangu, PTEN Hamartoma Tumor Syndrome (PHTS) kibinja kya ndwadde ezireetebwa enkyukakyuka, oba enkyukakyuka, mu buzaale obuyitibwa `PTEN` mu mubiri gwaffe. Kati oyinza okuba nga weebuuza nti obuzaale bwa `PTEN` kye ki. Teebereza nti mu mubiri gwaffe mulimu omuntu afuga okukula kw’obutoffaali, akola ng’omukuumi. Bw'atyo obuzaale buno obwa `PTEN` bwe buli. Kino kibeera `ensengekera y'obutonde eziyiza ebizimba` . Kye kikola kwe kukola `enzyme` eremesa obutoffaali bwaffe okukula mu ngeri etafugibwa n'okukola ebizimba.

Kale, bwe wabaawo enkyukakyuka, oba ekikyamu, mu ggiini eno eya `PTEN`, okufuga okukula kw’obutoffaali tekukola bulungi. Olwo obutoffaali ne butandika okukula nga tebufugibwa, era ebintu ebiyitibwa `hamartomas` bisobola okutondebwawo. Hamartoma kikula ekitali kya kookolo (`benign`) , ekitali kya bulabe, ekiringa ekizimba. Bw’oba ​​olina PHTS, oba mu bulabe obw’okufuna ebika bino eby’ebizimba ebiyitibwa hematomas n’ebizimba ebirala ebitali bya kookolo. Ate era, oluusi wabaawo obulabe bwa kookolo (`malignant`) , ebizimba, ekitegeeza kookolo.

Bika ki eby’obulwadde obugwa mu kiti kya PHTS?

Ekika kino ekigazi ekya PHTS kirimu obulwadde bubiri obukulu: Cowden syndrome ne Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Abasawo baali batwala bino ebibiri ng’embeera ez’enjawulo, naye kati zombi zikwatagana n’enkyukakyuka mu ggiini ya PTEN, n’olwekyo zikuŋŋaanyizibwa wansi w’ekigambo kimu eky’omuggo, PHTS.

Obulabe bw’obulamu bw’omuntu alina PHTS, ka kibeere Cowden syndrome oba BRRS, bufaanagana nnyo. Oluusi, omuntu alina PHTS ayinza okufuna obubonero obukwatagana n‟obulwadde buno bwombi mu bulamu bwe.

• Obulwadde bwa Cowden syndrome: Kino kisinga kubeera mu bantu abakulu. Abantu bano basobola okufuna ebizimba ebitali birungi n’ebibi. Ebizimba bino bisinga kubeera mu mabeere, nnabaana, endwadde ya thyroid, mu nkola y’olubuto, olususu, olulimi n’ennyindo.
• Obulwadde bwa Bannayan-Riley-Ruvalcaba syndrome (BRRS): Kino kisinga kukwata baana bato. Abaana abalina BRRS bayinza okufuna ebizimba ku lususu n’obubonero bw’okuzaalibwa. Era bayinza okulwawo okukulaakulana .

Bubonero ki obw’obulwadde bwa PHTS?

PHTS esobola okuleeta hematomas okukola mu bitundu by’omubiri gwo eby’enjawulo. Obubonero obutuufu bw’olaba bujja kwawukana okusinziira ku kika kya PHTS ky’olina. Okutwaliza awamu, bw’oba ​​olina PHTS, oyinza okufuna obubonero bumu oba obusingawo ku buno wammanga:

Amabala g’olususu n’amabwa

• Ebikula ebitonotono ebirabika nga biwanikiddwa ku lususu (skin tags oba acrochordons) .
• Ebifo ebiddugavu, ebipapajjo ku bisambi n’engalo z’ebigere (palmoplantar keratoses ).
• Ebizimba ebitonotono ebiweweevu ku maaso (trichilemmomas ).
• Ebizimba ebya langi y’olususu, ebigulumivu ( papillomas ).
• Ebizimba by’amasavu ( lipomas ) ebikula wansi w’olususu.
• Ebizimba ebikalu ebiringa ennyindo munda mu kamwa (oral fibromas ).
• Okukula kw’emisuwa okulabika ku lususu ( hemangiomas and birthmarks ).
• Ebizimba ku bitundu by’ekyama by’omusajja (`ebizimba ku busajja bwo` ).

Ebika by’ebizimba ebitali bya kookolo (`Benign`).

• Thyroid nodules ( ebizimba mu nnywanto ya thyroid).
• Okugaziwa kw’endwadde z’ekibumba n’okutondebwawo kw’ennywanto eziwerako (multinodular goiters ).
• Ebizimba mu nnabaana ( uterine fibroids ).
• Fibroadenomas z'amabeere .
• Enkyukakyuka mu bitundu ebigonvu ebiyitibwa Cystic soft tissue mu mabeere ( fibrocystic breasts ).
• Ebikula ebitonotono ebikola mu kitundu eky’okungulu eky’enkola y’okugaaya emmere n’ekyenda ekinene (colon polyps ).

Ebizibu by’obwongo n’enkula

• Okubeera n’omutwe omunene okusinga ogwa bulijjo (macrocephaly ).
• Okubeera n’omutwe omuwanvu ennyo ( dolichocephaly ).
• Okulwawo kw'enkulaakulana .
• Obulwadde bwa autism spectrum disorder (Obulwadde bwa Autism spectrum disorder ).

Kiki ekivaako PHTS?

Nga bwe twayogeddeko emabegako, ekisinga okuvaako PHTS kwe kukyukakyuka, oba enkyukakyuka, mu ggiini ya `PTEN`. Ensengekera eno eya `PTEN` evunaanyizibwa ku kufulumya `enzyme` eraga obutoffaali okulekera awo okwawukana era era eraga obubonero ddi obutoffaali lwe bulina okufa (`apoptosis`). Kino olwo kifuula ekifo obutoffaali obupya era obulamu obulungi.

Mu PHTS, obuzaale bwa PTEN tekola bulungi. N’ekyavaamu, obutoffaali busobola okweyongera okwawukana ne bukula nga tebufugibwa. Oluvannyuma obutoffaali buno busobola okukula awamu ne bukola ebizimba. Wadde ebizimba bino bitera okuba nga tebirina bulabe, oluusi bisobola okufuuka kookolo.

PHTS mbeera ya buzaale eyisibwa okuyita mu milembe.Ekyo kitegeeza nti abaana basobola okusikira obuzaale buno obukyusiddwa okuva mu bazadde baabwe.

PHTS eva etya mu lunyiriri?

Osikira PHTS mu nkola ya ``autosomal dominant`` . Omanyi ekyo kye kitegeeza? Ffenna tulina kkopi bbiri ez'obuzaale bwa ``PTEN`` mu mibiri gyaffe. Ekimu kya maama waffe, ekirala kya kitaffe. Mu mbeera ya PHTS, osikira kkopi emu ennungi ey'obuzaale bwa ``PTEN`` ne kkopi emu eya ``mutated``. Ne bw’oba ​​olina kkopi emu ennungi, obuzaale bwa ``PTEN`` obukyusiddwa buleeta ebizibu ebikwatagana ne PHTS. Kino kitegeeza nti ne bwe kiba nti omu yekka ku bazadde y’alina obuzaale obukyusiddwa, emikisa 50% nti omwana waabwe ajja kubusikira.

Oluusi, tosikira buzaale bwa PTEN obukyusiddwa okuva mu bazadde bo. Mu kifo ky’ekyo, enkyukakyuka eyo esobola okukula nga tonnazaalibwa, oba ng’omwana ali embuto oba ng’omwana ali mu lubuto .

Ne bw’ofuna otya enkyukakyuka eno, bw’oba ​​olina, omwana wo alina emikisa gya 50% okusikira kkopi eyo ey’obuzaale eyakyusiddwa.

Obulabe ki obwa kookolo obukwatagana ne PHTS?

Bw’oba ​​olina obulwadde bwa Cowden syndrome, olina emikisa mingi egy’okufuna ebika bya kookolo ebimu okusinga abantu bonna. N’olwekyo, olina okwekebejjebwa kookolo obulamu bwo bwonna okusobola okuddukanya akabi kano. Wadde ng’okukebera kuno tekuyinza kuziyiza kookolo kutandika, singa azuulibwa nga bukyali, obujjanjabi busobola okutandika nga bukyali era ebivaamu bisobola okuba ebirungi.

Ebika bya kookolo by’oyinza okuba mu bulabe obw’amaanyi bye bino:

• Kookolo w’amabeere
• Kookolo w’ekibumba
• Kookolo w’ekibumba
• Kookolo wa nnabaana
• Kookolo w’olubuto n’omumwa gwa nnabaana
• Melanoma, kookolo w’olususu

Okunoonyereza okulala kukyagenda mu maaso ku bulabe bwa kookolo obukwatagana ne BRRS.

PHTS ezuulibwa etya?

Omusawo wo ajja kuzuula oba olina PHTS singa basanga enkyukakyuka mu PTEN gene. Ojja kwetaaga okukeberebwa obuzaale okulaba oba olina enkyukakyuka eno. Kino kitera okukolebwa nga bayita mu kukeberebwa omusaayi .

Waliwo ebiragiro ebikwata ku kukebera obuzaale okuzuula obulwadde bwa Cowden syndrome (okugeza, okuva mu National Comprehensive Cancer Network ne Cleveland Clinic). Enkola zino zitereezebwa buli kiseera okusinziira ku kunoonyereza okupya. Ekibiina kya International Cowden Consortium nakyo kitaddewo emisingi gy’okuzuula obulwadde bwa Cowden syndrome. Omusawo wo ajja kusalawo oba weetaaga okukeberebwa kuno okusinziira ku bubonero bwo, ebyafaayo by’amaka g’ebizimba, n’okumanya oba olina enkyukakyuka mu PTEN.

Wadde nga tewali nkola ya mutindo kuzuula bulwadde bwa BRRS, omusawo ayinza okukuwa amagezi okukeberebwa kwe kumu n’ebyo ebikozesebwa okuzuula obulwadde bwa Cowden syndrome.

Ekisinga obukulu nti bw’oba ​​okakasiddwa nti olina enkyukakyuka eno, kikulu nnyo n’abantu abalala mu maka go nabo bafune okukeberebwa kuno.

PHTS esobola okuwona ddala?

Ebyembi, mu kiseera kino tewali ddagala lya PHTS. Wabula bannassaayansi bakyagenda mu maaso n’okunoonyereza ku bujjanjabi ki obusinga okukola ku kookolo alina enkyukakyuka mu PTEN.

PHTS ejjanjabwa etya era eddukanyizibwa etya?

Bw’oba ​​olina PHTS, oyinza okuba ne ttiimu y’abasawo abalabirira obulamu bwo. Zijja kukuyamba okuddukanya buli kimu okuva ku bubonero bwo okutuuka ku kukula okutali kwa bulijjo okutuuka ku kulwawo okukula. Era bajja kwekenneenya obulabe bwo obwa kookolo era basalewo emirundi gy’osaanidde okwekebejjebwa kookolo.

Enkola z’obujjanjabi

Wadde nga tewali ndagiriro ntongole ku kujjanjaba ebizimba, ebya kookolo oba ebitali bya kookolo, n’enkyukakyuka ya PTEN, obujjanjabi bujja kusinziira ku bubonero bwo. Obujjanjabi buno buyinza okuli:

• Okulongoosa: Okuggyawo ebitundu ebitali bya bulijjo. Nga tannalongoosebwa, omusawo ayinza okutwala sampuli y’ebitundu by’omubiri okukebera obutoffaali bwa kookolo ( a biopsy ).
• Cryotherapy: Okukozesa ennyonta ennyo okusaanyaawo ebitundu ebitali bya bulijjo.
• Laser ablation: Okukozesa ebbugumu eringi okusaanyaawo ebitundu ebitali bya bulijjo.
• Ebizigo ebiteekebwa ku mubiri ebirina eddagala: Ebizigo eby’enjawulo ebikoleddwa okusaanyaawo ebizimba by’olususu.

Okukebera kookolo

Bw’oba ​​olina obulwadde bwa Cowden syndrome, ojja kwetaaga okulondoola buli kiseera, obulamu bwo bwonna okulondoola okukula okutali kwa kookolo n’okukula kwa kookolo. Kino kitegeeza nti singa wabaawo ebizibu byonna ebibaawo, bisobola okukwatibwa nga bukyali, mu kiseera ekisinga obulungi okubijjanjaba. Wadde nga tewali ndagiriro ya mutindo ku kulondoola abantu abalina BRRS, omusawo wo ayinza okukuwa amagezi okukeberebwa okufaananako n’ebyo ebikolebwa ku bulwadde bwa Cowden syndrome.

Enkola zino ez’okugezesa ziyinza okuli bino wammanga, ebitera okukolebwa:

• Mammograms: Okukebera nga bakozesa X-rays ezitali za ddoozi entono okukuba ebifaananyi by’ebitundu by’amabeere.
• Breast MRIs: Okukebera okukozesa magineeti ennene n’amayengo ga leediyo okukuba ebifaananyi by’ebitundu by’amabeere.
• Ultrasounds: Okukebera nga bakozesa amaloboozi okukuba ebifaananyi by’ebitundu by’amabeere.
• Colonoscopies: Okukebera okutunula munda mu kyenda ekinene nga tukozesa ekyuma ekiyitibwa camera-equipped tube (scope). Tubu eno era esobola okukozesebwa okuggyamu ebiwuka ebiyitibwa polyps. Kino kiyinza okuyimiriza okukula nga tezinnaba kufuuka kookolo.
• Endoscopy (`Endoscopies`): Okukebera mu mubiri (`Endoscopies`):Okugezesebwa nga mu kino bateekebwamu ttanka (scope) nga kuliko kkamera okutunuulira omusulo, olubuto, n’ekitundu eky’okungulu eky’ekyenda ekitono (duodenum).

Okusinziira ku bivudde mu kukeberebwa, kiyinza okwetaagisa okukebera omubiri okukakasa oba ekitundu ekitali kya bulijjo kirimu obutoffaali bwa kookolo.

PHTS esobola okuziyizibwa?

Tewali ngeri yonna gye tuyinza kuziyiza PHTS. Wabula okwekebejja kookolo buli kiseera kiyinza okuyamba okuzuula kookolo nga bukyali, ng’ate asinga kujjanjabibwa. N’olwekyo, kikulu okukeberebwa kuno ng’omusawo bw’akulagidde.

Omuntu alina PHTS ayinza okusuubira ebiseera eby’omu maaso eby’engeri ki?

Ebiseera byo eby’omu maaso bisinziira ku bintu bingi, omuli obubonero bwo n’obulamu bwo okutwalira awamu. Bw’oba ​​olina obulwadde bwa PHTS/Cowden syndrome, olina emikisa mingi egy’okufuna ebika bya kookolo ebimu. Eno y’ensonga lwaki okwekebejja kookolo kikulu nnyo. Okukwata n’okujjanjaba kookolo nga bukyali y’engeri esinga okutumbula emikisa gyo egy’okuwona (prognosis).

Ddi lwe nnina okulaba omusawo?

Goberera ebiragiro by’omusawo ku mirundi gy’osaanidde okwekebejjebwa kookolo. Era kikulu okumanya obubonero obulabula ku kookolo. Buuza omusawo obubonero bw’olina okumanya.

Okuzuula nti ggwe oba omwana wo olina embeera nga PHTS kiyinza okuba ekizibu ennyo. Embeera eyeetaaga okufaayo buli kiseera. Kiyinza okunyigiriza abantu bangi. Kyokka, okwekebejja n’obwegendereza kiyinza okukuyamba ennyo mu kutaasa oba okwongera ku bulamu bwo singa ofuna kookolo. Bw’oba ​​ozuuliddwa nti olina PHTS, kakasa nti oyiga ku bulabe bw’obulamu bwo, engeri ttiimu yo ey’abasawo gy’egenda okulondoola obulamu bwo, n’engeri enteekateeka yo ey’obujjanjabi gy’eyinza okulongoosa obulamu bwo obw’ekiseera ekiwanvu.

Ensengekera y’obutonde eya PTEN ereeta etya kookolo?

Nga bwe twayogeddeko emabegako, enkyukakyuka mu buzaale bwa PTEN esobola okuleetera obutoffaali okukula mu ngeri etafugibwa ne bukola ebizimba. Wadde nga PHTS esinga kukwatagana n’ebizimba ebitali bya kookolo ebiyitibwa hematomas, okukula kuno okw’obutoffaali okutafugibwa era kuyinza okuvaako ebizimba bya kookolo. Ebika by’ebizimba byombi biva ku butoffaali okweyawulamu amangu. Wadde ng’ebizimba ebitali bya kookolo bibeera mu kitundu, ebizimba bya kookolo bisobola okusaasaana mu mubiri gwonna (okusaasaana) . Bwe zikola bwe zityo, obutoffaali bwa kookolo bwonoona ebitundu ebiramu.

Ensonga ennyimpimpi z’olina okujjukira

Okay, kale ka tuddemu okukubaganya ebirowoozo ku bimu ku bintu ebikulu eby'okujjukira ku PHTS gye twogeddeko:

• PHTS mbeera ereetebwa enkyukakyuka mu buzaale obuyitibwa `PTEN`. Ensengekera eno eyamba okufuga okukula kw’obutoffaali bwaffe.
• Embeera eno esobola okuvaako ebizimba ebitali bya kookolo (hematomas) n’ebikula ebirala okutondebwa mu bitundu by’omubiri eby’enjawulo.
• Abantu abalina PHTS naddala abalina obulwadde bwa Cowden syndrome, bali mu bulabe obw’okufuna ebika bya kookolo ebimu (nga kookolo w’amabeere, thyroid, ekibumba, nnabaana, n’ekyenda ekinene).
• Eno mbeera eyinza okusikira . Bw’oba ​​olina, abaana bo balina emikisa gya 50% okugisikira.
• Mu kiseera kino PHTS tesobola kuwona ddala. Wabula obubonero busobola okufugibwa era n’obulabe bwa kookolo busobola okuddukanyizibwa.
• Okukebera kookolo buli kiseera kiyinza okutaasa obulamu, kubanga kookolo atera okujjanjabibwa n’okuwona singa azuulibwa nga bukyali.
• Bw’oba ​​ggwe oba omuntu mu maka go alina obubonero buno, kakasa nti onoonya amagezi g’omusawo. Okukebera obuzaale n’okulondoola obulungi abasawo kikulu nnyo.

Tosattira naye ekisinga obukulu kwe kutegeezebwa. Bw’oba ​​olina ekibuuzo ekirala kyonna, tolwawo kwogera na musawo wo.

` PTEN, Hematoma, Ekizimba, Obulwadde, Enkyukakyuka mu buzaale, Kookolo, Obulwadde bwa Cowden, BRRS