Ngaba uyayazi iCowden Syndrome? Makhe sithethe ngayo ngokulula!

Ngaba ukhe waphawula amaqhuma amancinci angaqhelekanga aqala emzimbeni wakho? Okanye mhlawumbi ukhe weva ukuba umntu kusapho lwakho unesifo somhlaza eselula kakhulu. Ngamanye amaxesha kukho imeko engaqhelekanga yemfuza emva kwezi zinto. Enye yezi meko yiCowden Syndrome. Ngaba singathetha ngale nto ngokweenkcukacha namhlanje?

Yintoni iCowden Syndrome?

Ngamafutshane, iCowden syndrome sisifo esingaqhelekanga semfuza esidluliselwa kwiijini zethu. Abantu abanale meko banamathuba amaninzi okukhula nokukhula okufana nomhlaza, okungengomhlaza. Nangona kunjalo, basengozini enkulu yokukhula ngeentlobo ezithile zomhlaza.

Kuqheleke kangakanani oku?

Akunjalo ngokwenene. Le meko, ebizwa ngokuba yiCowden Syndrome, ayiqhelekanga kakhulu . Ngokutsho kweengcali zonyango, ichaphazela malunga nomntu omnye kumakhulu amabini amawaka. Nangona kunjalo, ngamanye amaxesha iimpawu zayo azaziwa kakuhle, ngoko ke inokungafunyaniswa.

Ngoko ke, ngaba iCowden Syndrome ngumhlaza?

Hayi, iCowden syndrome ayingomhlaza. Nangona kunjalo, abantu abanale meko banamathuba amaninzi okufumana iintlobo ezithile zomhlaza , kwaye banokukhula besebancinci kunesiqhelo (kwasekuqaleni) . 'Ukuqala kwangoko' kuthetha ukuba esi sifo sikhula besebancinci kunesiqhelo. Umzekelo, umfazi oneCowden syndrome unokufumana umhlaza webele ngaphambi kokuba afikelele kwiminyaka engama-40. Umhlaza webele awubonakali rhoqo ngaphambi kokuba afikelele kwiminyaka engama-60. Kukho ezinye iintlobo zomhlaza ezinokunxulunyaniswa nale meko:

• Umhlaza we-endometrial (umhlaza wesibeleko)
• Umhlaza we-thyroid (ingakumbi uhlobo olubizwa ngokuba yi-`follicular thyroid cancer`)
• Umhlaza weColoral
• Umhlaza wezintso
• I-Melanoma, umhlaza wolusu

Yintoni umahluko phakathi kweCowden Syndrome kunye nePTEN hamartoma tumor syndrome?

Le yingxaki enzulu kancinci, kodwa ndiza kuyigcina ilula. I-`PTEN hamartoma tumor syndrome (PHTS)` liqela leempawu ezizuzwe njengelifa ezibangelwa lutshintsho (utshintsho) kwijini ye-`PTEN`. Malunga nomntu omnye kwabane abane-Cowden syndrome bafunyenwe benale nguqu kwijini ye-`PTEN`.

Nangona kunjalo, ngenxa yokuba iimpawu zazo zombini zifana kakhulu, ukuba uneCowden syndrome okanye imeko efanayo, ugqirha wakho uza kukuphatha ngokungathi une-PHTS. Oku kungenxa yokuba ukuhlolwa kwangoko nokuhlolwa rhoqo komhlaza kubalulekile kuzo zombini.

Zithini iimpawu zeCowden Syndrome?

Iimpawu zale meko zihlala ziqala ukubonakala emzimbeni kwiminyaka yoo-1920. Abanye abantu bafumanisa ukuba baneCowden syndrome kuphela xa befuna iingcebiso zonyango, nokuba kungenxa yamaqhuqhuva abizwa ngokuba yi-hamartomas okanye ngenxa yomhlaza okhula besebancinci.

I-Hamartomas (ebizwa ngokuba yi-'ha-ma-to-mas') zezona zinto zixhaphakileyo nezibonakalayo kwiCowden syndrome. Azizo ezikhula njengomhlaza, zifana nethumba. Zinokuvela naphi na emzimbeni, ngaphakathi nangaphandle. Zifumaneka kakhulu entanyeni, ebusweni nasentlokweni.

Kukho nezinye iimpawu:

• Ukuba nentloko enkulu kuneqhelekileyo (i-macrocephaly) .
• Amaqhuma amancinci, agudileyo eluswini (ii-trichilemmomas).
• Amaqhuma acacileyo afana namaqhubu ezinyaweni, ezintendeni zezandla, nasemva kwezandla (i-acral keratosis).
• Ukukhula okufana neentsumpa elulwimini, kwiintsini, ngasemva komqala, nakwiitoni (`oral papillomatosis`).

Kodwa kubalulekile ukukhumbula oku: Ukuba nje unezinye zezi mpawu akuthethi ukuba uneCowden syndrome. Oogqirha badla ngokuyikrokrela le meko ukuba unendibaniselwano yezi mpawu .

Yintoni ebangela iCowden Syndrome?

I-Cowden syndrome ibangelwa ziinguqu ezithile zemfuza ozizuza njengelifa. Ngamafutshane, ii-genes zilawula indlela iiseli emzimbeni wethu ezikhula ngayo, zahlulahlula ngayo, kwaye zife ngayo. Kwi-Cowden syndrome, ngenxa yesiphene kwezi jini, iiseli ezingaqhelekanga zikhula zingalawuleki kwaye zihlala ixesha elide xa kufuneka. Ekugqibeleni, ezi seli ziyahlangana ukuze zenze ii-tumor ezingezizo umhlaza ezibizwa ngokuba yi-hamartomas.

Izazinzulu zisaphanda ngotshintsho lwemfuza olunyusa umngcipheko womhlaza, ii-genes ezinxulumene ne-Cowden syndrome. Abanye abantu abane-Cowden syndrome abanayo i-mutation kwi-gene ye-'PTEN'. Kwinani elincinci labantu, i-mutations ifunyenwe kwezinye ii-genes, ezifana ne-'PIK3CA/AKT1`, `SDHB-D`, `KLLN` kunye ne-`SEC23B`. Ngoko ke, abaphandi bezonyango bayaqhubeka nokujonga oku.

Oku kudluliswa njani kwizizukulwana ngezizukulwana?

Abantu abane-Cowden syndrome bazuza le meko ngendlela ethi "autosomal dominant pattern." Oku kuthetha ukuba ufumana i-gene eqhelekileyo komnye wabazali bakho bemvelo kunye ne-gene eguquliweyo komnye umzali. Oku kuthetha ukuba umntwana ngamnye unethuba elingama-50% lokufumana i-gene eguquliweyo.

Ziziphi izinto ezibangela umngcipheko weCowden Syndrome?

Eyona nto ibalulekileyo ebangela umngcipheko echongiweyo ukuza kuthi ga ngoku yimbali yosapho . Oku kuthetha ukuba ukuba umntu kusapho lwakho uneCowden syndrome, nawe unethuba elikhulu lokuba nayo.

Ziziphi iingxaki ezinokubakho ngenxa yale meko?

Ukuba uneCowden syndrome, usemngciphekweni omkhulu wokufumana iintlobo ezithile zomhlaza. Kwakhona, unokufumana umhlaza usemncinci , okanye iintlobo ezingaphezu kwesinye zomhlaza ebomini bakho.Inokwenzeka ngamaxesha ahlukeneyo, ngoko ke kubalulekile ukuthetha nogqirha wakho malunga nokuba kufuneka uye kuhlolwe umhlaza nini kwaye kangaphi.

Oogqirha bayixilonga njani iCowden Syndrome?

I-Cowden syndrome sisifo esintsonkothileyo esineempawu ezininzi kunye neemeko ezinxulumene nayo. Nokuba unenye okanye ngaphezulu kwezi mpawu, akuthethi ukuba unesifo seCowden.

Ukuze kuchongwe iCowden syndrome, oogqirha bathelekisa imeko yakho neendlela zokuxilonga ezenziwe ngoogqirha abaziingcali kwizifo zomhlaza ezizuzwe njengelifa. Kule nkqubo, imeko yakho ihambelana neendlela eziphambili kunye neendlela ezincinci . Ufunyaniswa uneCowden syndrome ukuba unendibaniselwano ethile yezi ndlela.

Oogqirha banokukrokrela ukuba uneCowden syndrome ukuba:

• Ngaphandle kwe-'macrocephaly' (intloko enkulu), kukho iindlela ezintathu eziphambili .
• Ukuba nekhrayitheriya enye enkulu okanye iikhrayitheriya ezintathu ezincinci .
• Ukuba neendlela ezine ezincinci .
• Omnye wezalamane zakho uneCowden syndrome okanye imeko efana neBannayan-Riley-Ruvalcaba syndrome (BRRS).

Iimpawu zeCowden Syndrome

Nazi ezinye zezona ndlela ziphambili nezincinci eziqwalaselwa ngoogqirha:

Iikhrayitheriya eziphambili:

• Umhlaza webele
• Umhlaza we-endometrial
• Umhlaza we-thyroid we-follicular
• Ukuba ne-hamartomas ezininzi kwindlela yesisu (GI)
• I-Macrocephaly - (umjikelo wentloko odlula ixabiso elithile)
• Ubukho bamabala amnyama (ii-pigmented macules) kwi-glans penis
• Xa isiqwenga sesikhumba sithathwa size sihlolwe (sijongwa nge-biopsy), sibonisa iimpawu ze-'trichilemmoma'
• Ukuba nolusu oluninzi olujiyileyo (palmoplantar keratosis) ezandleni nasezinyaweni
• Ukuba nokukhula okufana neentsumpa (`papillomatosis`) emlonyeni (umlomo we-mucosal)
• Ubuninzi bamaqhuqhuva afana neentsumpa (`papules`) kulusu lobuso (`cutaneous facial`)

Iikhrayitheriya ezincinci:

• Umhlaza wamathumbu amakhulu
• I-Esophageal glycogenic acanthosis (le yimeko ethile eyenzeka kwi-esophagus)
• Isifo se-Autism spectrum
• Ukukhubazeka kokufunda
• Umhlaza we-thyroid we-Papillary
• Iingxaki ze-thyroid (umz. ii-goiters, i-adenomas)
• Umhlaza wezintso
• Iithumba ezinamafutha (`iiLipomas`)
• Ukuba ne-'hamartoma' enye kwinkqubo yokugaya ukutya
• Ukugcwala kwamafutha emasendeni (`i-testicular lipomatosis`)

Ukuba ugqirha wakho ucinga ukuba usenokuba uneCowden syndrome, uza kukubuza ngembali yosapho lwakho kwaye angayalela uvavanyo lwemfuza ukuze abone ukuba ngaba unayo na inguqu yemfuza.

Yintoni omele uyenze ukuba ucinga ukuba unale meko?

Ukuba unale mpawu, kubalulekile ukubona ingcali yezakhi zofuzo ukuze ikunike iingcebiso . Banokugqiba ukuba ngaba kufuneka wenze izinto ezifana novavanyo lwezakhi zofuzo lwe-PTEN. Banokukuthumela kumcebisi wezakhi zofuzo . Umcebisi wezakhi zofuzo angakunceda uqonde indlela iimeko zezakhi zofuzo ezifana nokuguqulwa kwezakhi zofuzo ezinokukuchaphazela ngayo. Banokuchaza neziphumo zovavanyo lwezakhi zofuzo kunye nokuhlolwa komhlaza onokukufuna ukuba une-PTEN hamartoma tumor syndrome (PHTS). Ngenxa yokuba i-Cowden syndrome yimeko engaqhelekanga, licebo elihle ukufumana iqela okanye iziko eligxile kwi-PHTS kunye ne-Cowden syndrome.

Oogqirha bayinyanga njani iCowden Syndrome?

I-Cowden syndrome yimeko enxulunyaniswa neemeko ezahlukeneyo, kuquka iingxaki zolusu kunye nomhlaza. Rhoqo, abantu bafumanisa ukuba bane-Cowden syndrome xa benyangwa enye imeko enxulumene nale syndrome.

Nangona kunjalo, kubalulekile ukuba abantu abaneCowden syndrome, kodwa abangenayo umhlaza okwangoku , bahlolwe umhlaza rhoqo kwangethuba . Nazi imizekelo embalwa:

• Kumhlaza webele: Iimammogram zonyaka eziqala kwiminyaka engama-30 ubudala. Iiskeni ze-magnetic resonance imaging (MRI) nazo zinokucetyiswa kwabo banamabele axineneyo.
• Ngomhlaza we-thyroid: I-ultrasound yonyaka ye-thyroid iqala xa uneminyaka esi-7 ubudala. Nangona kunjalo, ukuba uneempawu (umz., iqhubu le-thyroid, ubunzima bokuginya), kunokufuneka ukuba wenze olu vavanyo kwangethuba.

Ngokufanayo, ugqirha wakho unokucebisa ukuba uhlolwe ezinye iintlobo zomhlaza (umz., umhlaza wesibeleko, wezintso, wamathumbu amakhulu) ngamaxesha athile, kuxhomekeke kwimeko yakho.

Yintoni omele uyilindele xa uphila nale meko?

Ukuba uneCowden syndrome, umcebisi wakho wezemfuza uza kukunceda uqonde iziphumo zovavanyo lwakho lwemfuza. Ukuba uvavanyo lwakho lwemfuza lubonisa ukuba une-PTEN hamartoma tumor syndrome (PHTS), baza kuchaza nokuba loluphi uvavanyo lomhlaza olufunekayo. Usenokuba uneminyaka engaphantsi kunomntu oqhelekileyo .Kusenokufuneka uqale ukufumana ezi mvavanyo zomhlaza. Nangona kunjalo, ngokuzifumana rhoqo ezi mvavanyo, ungafumana umhlaza ungekabi nazimpawu.

Ingakanani iminyaka yokuphila yabantu abaneCowden Syndrome?

Ixesha lokuphila ngeCowden syndrome lixhomekeke kwiimeko zakho. Umzekelo, ukuba ufunyaniswa unomhlaza webele usemncinci kwaye usasazekile, ixesha lokuphila kwakho linokuba lifutshane kunomntu owafunyaniswa enomhlaza kwangethuba waza wanyangwa. Nangona kunjalo, ukufumana uhlolo lomhlaza olucetyiswayo kunokukunceda uthintele umhlaza ukuba ungakhuli, okanye ubuncinci uwufumane kwangethuba xa unokunyangeka.

Ndizinyamekela njani? / Uzinyamekela njani?

Ukuba uneCowden syndrome, kubalulekile ukuba uhlolwe rhoqo umhlaza ukuze ufumane umhlaza ngaphambi kokuba ube neempawu. Buza ugqirha wakho ukuba kukho naziphi na iimpawu ezithile ekufuneka uziqaphele ezinokuba ngumhlaza. Ukuba uneCowden syndrome, buza umcebisi wakho wezemfuza ukuba amanye amalungu osapho kufuneka enze uvavanyo lwemfuza.

Ngaba kufuneka ndiye kugqirha? / Ngaba kufuneka ndiye kugqirha?

Ewe, ngokuqinisekileyo. I-Cowden syndrome, ingakumbi ukuba ufunyaniswe une-"germline PTEN mutation" okanye i-"PTEN hamartoma tumor syndrome (PHTS), inxulunyaniswa neentlobo ezininzi zomhlaza. Iqela lakho lezonyango liza kujonga impilo yakho iyonke kunye neziphumo zovavanyo lomhlaza rhoqo.

Yeyiphi imibuzo ekufuneka ndiyibuze ugqirha wam? / Yeyiphi imibuzo ekufuneka uyibuze ugqirha wakho?

Kungcono ukubuza imibuzo efana nale xa ubona ugqirha wakho:

• "Ndifumene uhlobo olunye lomhlaza ngenxa yesi sifo. Ngaba kunokwenzeka ukuba ndifumane ezinye iintlobo zomhlaza?"
• "Uvavanyo lwemfuza lubonisa ukuba ndine-gene ye-'PTEN' eguquliweyo. Ngaba lonke usapho lwam kufuneka luvavanywe olu gene?"
• "Ngaba le meko ingayichaphazela na abantwana endinabo kwixesha elizayo?"
• "NdineCowden syndrome, kodwa andinayo i-'PTEN' mutation. Ngoko ke zeziphi ezinye iinguqu zemfuza ezinokubangela oku?"
• "Uvavanyo lwemfuza lubonisa ukuba ndinemfuza eguqukileyo ebangela iCowden syndrome. Ngaba oko kuya kundenza ndibe nomhlaza?"

I-Cowden syndrome sisifo esingaqhelekanga, esidluliselwa kwilifa esinzima ukusifumanisa. Kungcono ukubona ingcali yemfuza ukuze ufumane ngokuqinisekileyo ukuba unayo i-PTEN hamartoma tumor syndrome (PHTS). Oogqirha bakho banokucwangcisa isicwangciso sonyango esilungiselelwe imeko yakho. Ngamanye amaxesha, ukuba uvavanyo lwemfuza alufumani utshintsho lwe-PTEN, kunokufuneka ube novavanyo olwahlukeneyo ukuze kuthintelwe ezinye iimeko. Umcebisi wakho wemfuza uya kukhokela kwinto omawuyenze ngokulandelayo.

Kunokuba yinto eyoyikisayo ukwazi ukuba kukho into engalunganga emzimbeni wakho, kodwa awazi ukuba yintoni okanye yintoni omawuyenze ngayo. Ukuba ufumanisa ukuba uneCowden syndrome, kuya kufuneka uphile unolwazi lokuba unokuba neentlobo ezahlukeneyo zomhlaza ubomi bakho bonke. Nangona uyazi ukuba kukho iimvavanyo ezinokubona umhlaza ngaphambi kokuba kuvele iimpawu, loo ngcinga inokuba yinto eyoyikisayo. Ukuba unale meko, iqela lakho lezonyango liya kuhlala lijonga impilo yakho kunye neziphumo zovavanyo. Baza kuthatha amanyathelo ngokukhawuleza ukunyanga umhlaza ngaphambi kokuba usasazeke. Ngoko ke, kubalulekile ukuba nesibindi, ulandele icebiso likagqirha wakho, kwaye ufumane uhlolo rhoqo.

Ukushwankathela konke (Umyalezo Wokuya Ekhaya)

Kulungile, makhe sijonge ezinye zezona zinto zibalulekileyo ekufuneka uzikhumbule kwizinto esithethe ngazo:

• I-Cowden Syndrome sisifo esingaqhelekanga semfuza esibangela ukuba kubekho amaqhuma angengomhlaza (ii-hamartoma) emzimbeni, kunye nomngcipheko ophezulu wokufumana iintlobo ezithile zomhlaza (ingakumbi umhlaza wamabele, i-thyroid, kunye nomhlaza wesibeleko).
• Lo asingomhlaza ngokuthe ngqo, kodwa kubaluleke kakhulu ukuba nokuhlolwa rhoqo ngenxa yomngcipheko wokuba nomhlaza .
• Iimpawu ziyahluka. Ezona ziphambili yintloko enkulu (i-macrocephaly) kunye namaqhuma athile eluswini nasemlonyeni. Ezi mpawu zodwa azibonisi ukuba kukho isifo, kwaye ukuxilongwa kwenziwa ngokusekelwe kwiindlela zonyango.
• Le meko idla ngokunxulunyaniswa notshintsho kwi-gene `PTEN`. Uvavanyo lwe-genetic kunye neengcebiso ze-genetic zibaluleke kakhulu koku.
• Unyango lujolise kakhulu ekufumaneni umhlaza kwangethuba kunye nonyango . Ngoko ke, fumana uvavanyo (ii-mammogram, ii-ultrasound, njl.njl.) olucetyiswe ngugqirha wakho kwangethuba.
• Ukuba unamathandabuzo malunga nale meko, okanye ukuba kukho umntu kusapho lwakho onale mpawu, ungathandabuzi ukubona ugqirha kwaye ucele ingcebiso. Kubaluleke kakhulu ukwaziswa kwaye uthathe amanyathelo kwangethuba.

Khumbula, ukuphila nale meko kunokuba nzima, kodwa ngokulawulwa ngokufanelekileyo kwezonyango kunye nenkxaso, unokukwazi ukuyilawula. Awuwedwa.

Isifo sikaCowden , Izifo zofuzo, umngcipheko womhlaza, i-PTEN Gene, amaqhuma olusu, iHematoma, izifo ezidluliselwa kwilifa, uvavanyo lomhlaza