Uyazazi yini i-Cowden Syndrome? Ake sixoxe ngayo kalula!

Uke waphawula amaqhubu amancane angavamile akheka emzimbeni wakho? Noma mhlawumbe uke wezwa ukuthi othile emndenini wakho unesifo somdlavuza esemncane kakhulu. Ngezinye izikhathi kuba nesifo esingavamile sofuzo ngemuva kwalezi zinto. Esinye salezi zimo yiCowden Syndrome. Ingabe singaxoxa ngakho ngokuningiliziwe namuhla?

Iyini i-Cowden Syndrome?

Kalula nje, i-Cowden syndrome iyisimo esingavamile sofuzo esidluliselwa ngofuzo lwethu. Abantu abanalesi simo banamathuba amaningi okukhula nokukhula okufana nomdlavuza, okufana nomdlavuza. Kodwa-ke, basengozini enkulu kancane yokukhula ngezinhlobo ezithile zomdlavuza.

Kuvamile kangakanani lokhu?

Akunjalo ngempela. Lesi simo, esibizwa ngokuthi i-Cowden Syndrome, asivamile kakhulu . Ngokusho kochwepheshe bezokwelapha, sithinta cishe umuntu oyedwa kwabayizinkulungwane ezingamakhulu amabili. Kodwa-ke, ngezinye izikhathi izimpawu zaso azaziwa kahle, ngakho-ke singagcina singatholakalanga.

Ngakho-ke ingabe i-Cowden Syndrome ingumdlavuza?

Cha, i-Cowden syndrome ayiyona umdlavuza. Kodwa-ke, abantu abanalesi simo banamathuba amaningi okuthola izinhlobo ezithile zomdlavuza , futhi bangase bakhule besebancane kunokujwayelekile (ukuqala kwasekuqaleni) . 'Ukuqala kwasekuqaleni' kusho ukuthi lesi sifo sikhula sisebancane kunokujwayelekile. Isibonelo, owesifazane one-Cowden syndrome angase abe nomdlavuza webele ngaphambi kweminyaka engu-40. Umdlavuza webele awuvamile ukubonakala ngaphambi kweminyaka engu-60. Kunezinye izinhlobo zomdlavuza ezingase zihlotshaniswe nalesi simo:

• Umdlavuza we-endometrial (umdlavuza wesibeletho)
• Umdlavuza we-thyroid (ikakhulukazi uhlobo olubizwa ngokuthi 'umdlavuza we-thyroid we-follicular')
• Umdlavuza we-Colorectal
• Umdlavuza wezinso
• I-Melanoma, umdlavuza wesikhumba

Uyini umehluko phakathi kweCowden Syndrome kanye ne-PTEN hamartoma tumor syndrome?

Lokhu kuyindaba ejulile kancane, kodwa ngizoyigcina ilula. I-`PTEN hamartoma tumor syndrome (PHTS)` iyiqembu lezimpawu ezizuzwe njengefa ezibangelwa izinguquko (ukuguqulwa kwezakhi zofuzo) ku-`PTEN` gene. Cishe umuntu oyedwa kwabane abane-Cowden syndrome kutholakale ukuthi unalolu guquko ku-`PTEN` gene.

Kodwa-ke, ngenxa yokuthi izimpawu zazo zombili zifana kakhulu, uma une-Cowden syndrome noma isimo esifanayo, udokotela wakho uzokuphatha njengokungathi une-PHTS. Lokhu kungenxa yokuthi ukuhlolwa komdlavuza kusenesikhathi nokuvamile kubalulekile kuzo zombili.

Ziyini izimpawu ze-Cowden Syndrome?

Izimpawu zalesi simo zivame ukuqala ukuvela emzimbeni ngawo-1920. Abanye abantu bathola ukuthi bane-Cowden syndrome kuphela lapho befuna iseluleko sezokwelapha, kungaba ngenxa yamaqhubu abizwa ngokuthi ama-hamartoma noma ngenxa yomdlavuza oqala esemncane.

Ama-Hamartomas (abizwa ngokuthi 'ha-ma-to-mas') ayisici esivame kakhulu nesivelele se-Cowden syndrome. Ayizimila ezingezona umdlavuza, ezifana nezimila. Angakhula noma kuphi emzimbeni, ngaphakathi nangaphandle. Avame ukutholakala entanyeni, ebusweni nasekhanda.

Kunezinye izimpawu:

• Ukuba nekhanda elikhulu kunelijwayelekile (i-macrocephaly) .
• Amaqhubu amancane, abushelelezi esikhumbeni (ama-trichilemmoma).
• Amaqhubu acacile afana nama-blister ezinyaweni, ezintendeni zezandla, nasemhlane wezandla (i-acral keratosis).
• Ukukhula okufana nezinhlungu olimini, ezinsinini, ngemuva komphimbo, kanye nasezintanyeni (`i-oral papillomatosis`).

Kodwa kubalulekile ukukhumbula lokhu: Ukuthi nje unezinye zalezi zimpawu akusho ukuthi une-Cowden syndrome. Odokotela bavame ukusola lesi simo uma unenhlanganisela yalezi zimpawu ezithile .

Yini ebangela i-Cowden Syndrome?

I-Cowden syndrome ibangelwa izinguquko ezithile zofuzo ozizuza njengefa. Kalula nje, izakhi zofuzo zilawula indlela amangqamuzana emzimbeni wethu akhula, ahlukana ngayo, futhi afe ngayo. Ku-Cowden syndrome, ngenxa yephutha kula ma-gene, amangqamuzana angajwayelekile akhula engalawuleki futhi aqhubeke lapho kufanele. Ekugcineni, lawa maseli ahlangana ndawonye ukuze akhe izimila ezingezona umdlavuza ezibizwa ngokuthi ama-hamartoma.

Ososayensi basacwaninga ngezinguquko zofuzo ezandisa ingozi yalo mdlavuza, izakhi zofuzo ezihlotshaniswa ne-Cowden syndrome. Abanye abantu abane-Cowden syndrome abanalo ushintsho ku-'PTEN' gene. Ebantwini abambalwa, izinguquko zitholakale kwezinye izakhi zofuzo, njenge-'PIK3CA/AKT1`, `SDHB-D`, `KLLN` kanye ne-`SEC23B`. Ngakho-ke, abacwaningi bezokwelapha bayaqhubeka nokubheka lokhu.

Lokhu kudluliswa kanjani ezizukulwaneni ngezizukulwane?

Abantu abane-Cowden syndrome bazuza lesi simo ngendlela "ebonisa ukuthi umuntu unesifo esibizwa ngokuthi i-autosomal dominant pattern." Lokhu kusho ukuthi uthola i-gene evamile komunye wabazali bakho kanye ne-gene eguquliwe komunye umzali. Lokhu kusho ukuthi ingane ngayinye inethuba elingu-50% lokuthola i-gene eguquliwe.

Yiziphi izici eziyingozi ze-Cowden Syndrome?

Okuwukuphela kwesici esikhulu sengozi esitholiwe kuze kube manje umlando womndeni . Lokhu kusho ukuthi uma othile emndenini wakho ene-Cowden syndrome, nawe unethuba elikhulu lokuyithola.

Yiziphi izinkinga ezingaba khona ngenxa yalesi simo?

Uma une-Cowden syndrome, usengozini enkulu yokuthola izinhlobo ezithile zomdlavuza. Futhi, ungase ube nomdlavuza usemncane , noma izinhlobo ezingaphezu kowodwa zomdlavuza ngesikhathi sokuphila kwakho.Kungenzeka ngezikhathi ezahlukene, ngakho-ke kubalulekile ukukhuluma nodokotela wakho mayelana nokuthi kufanele uhlolwe umdlavuza nini futhi kangaki.

Odokotela bayixilonga kanjani i-Cowden Syndrome?

I-Cowden syndrome iyisifo esiyinkimbinkimbi esinezimpawu eziningi kanye nezimo ezihlobene nayo. Ngisho noma unesinye noma ngaphezulu salezi zimpawu, akusho ukuthi une-Cowden syndrome.

Ukuze kutholakale i-Cowden syndrome, odokotela baqhathanisa isimo sakho nezindlela zokuxilonga ezithuthukiswe odokotela abangochwepheshe be-syndromes yomdlavuza ezuzwe njengefa. Kule nqubo, isimo sakho sifaniswa nezindlela ezinkulu kanye nezindlela ezincane . Utholakala une-Cowden syndrome uma unenhlanganisela ethile yalezi zindlela.

Odokotela bangase basole ukuthi unesifo i-Cowden uma:

• Ngaphandle kwe-'macrocephaly' (ikhanda elikhulu), kunezindlela ezintathu eziyinhloko .
• Ukuba nenqubo eyodwa enkulu noma izindlela ezintathu ezincane .
• Ukuba nezindinganiso ezine ezincane .
• Omunye wezihlobo zakho une-Cowden syndrome noma isimo esihlobene naso njenge-Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Izindlela Zokuthola I-Cowden Syndrome

Nazi ezinye zezindlela ezinkulu nezincane odokotela abazicabangelayo:

Izindlela eziyinhloko:

• Umdlavuza webele
• Umdlavuza we-endometrial
• Umdlavuza we-thyroid we-follicular
• Ukuba ne-hamartomas eminingi endleleni yokugaya ukudla (GI)
• I-Macrocephaly - (ukujikeleza kwekhanda okungaphezu kwenani elithile)
• Ukuba khona kwamabala amnyama (ama-pigmented macules) epenis ye-glans
• Uma kuthathwa isikhumba futhi sihlolwa (kuhlolwe nge-biopsy), sibonisa izimpawu ze-'trichilemmoma'
• Ukuba nesikhumba esiningi esijiyile (palmoplantar keratosis) ezandleni nasezinyaweni
• Ukuba nezimila eziningi ezifana nezinsumpa (`papillomatosis`) emlonyeni (oral mucosal)
• Ubuningi bamaqhubu afana nezinsumpa (`ama-papules`) esikhumbeni sobuso (`ubuso obusesikhumbeni`)

Izindlela ezincane:

• Umdlavuza wamathumbu amakhulu
• I-esophageal glycogenic acanthosis (lesi yisimo esithile esenzeka emhubheni)
• Isifo se-Autism spectrum
• Ukukhubazeka kokufunda
• Umdlavuza we-thyroid we-papillary
• Izinkinga ze-thyroid (isb. ama-goiter, ama-adenoma)
• Umdlavuza wezinso
• Izimila ezinamafutha (`Lipomas`)
• Ukuba ne-'hamartoma' eyodwa ohlelweni lokugaya ukudla
• Ukugcwala kwamafutha emasendeni (`i-testicular lipomatosis`)

Uma udokotela wakho ecabanga ukuthi unesifo i-Cowden syndrome, uzobuza ngomlando womndeni wakho futhi angase acele ukuhlolwa kwezakhi zofuzo ukuze kubonakale ukuthi une-mutation yezakhi zofuzo.

Yini okufanele uyenze uma ucabanga ukuthi unalesi simo?

Uma unalezi zimpawu, kubalulekile ukubona uchwepheshe wezakhi zofuzo ukuze akunike iseluleko . Banganquma ukuthi udinga ukwenza izinto ezifana nokuhlolwa kwezakhi zofuzo ze-PTEN. Bangakudlulisela nakumeluleki wezakhi zofuzo . Umeluleki wezakhi zofuzo angakusiza uqonde ukuthi izimo zezakhi zofuzo ezifana nokuguqulwa kwe-PTEN zingakuthinta kanjani. Bangachaza nemiphumela yokuhlolwa kwezakhi zofuzo nokuthi yikuphi ukuhlolwa komdlavuza ongakudinga uma une-PTEN hamartoma tumor syndrome (PHTS). Ngenxa yokuthi i-Cowden syndrome iyisimo esingavamile, kungumqondo omuhle ukuthola ithimba noma isikhungo esikhethekile ku-PHTS kanye ne-Cowden syndrome.

Odokotela baphatha kanjani i-Cowden Syndrome?

I-Cowden syndrome yisimo esihlotshaniswa nezimo ezahlukahlukene, okuhlanganisa izinkinga zesikhumba nomdlavuza. Ngokuvamile, abantu bathola ukuthi bane-Cowden syndrome lapho belashwa esinye isimo esihlobene naleso sifo.

Kodwa-ke, kubalulekile ukuthi abantu abane-Cowden syndrome, kodwa abangenawo umdlavuza njengamanje , bahlolwe umdlavuza njalo, kusenesikhathi . Nazi izibonelo ezimbalwa:

• Ngomdlavuza webele: Ama-mammogram onyaka aqala eneminyaka engu-30. Ama-scan e-magnetic resonance imaging (MRI) anganconywa nakulabo abanamabele aminyene.
• Ngomdlavuza we-thyroid: I-ultrasound ye-thyroid yonyaka iqala eneminyaka engu-7. Kodwa-ke, uma unezimpawu (isib., iqhubu le-thyroid, ubunzima bokugwinya), kungadingeka ukuthi wenze lezi zivivinyo kusenesikhathi.

Ngokufanayo, udokotela wakho angase futhi ancome ukuhlolwa kwezinye izinhlobo zomdlavuza (isib., umdlavuza wesibeletho, wezinso, wamathumbu amakhulu) ngezikhathi ezithile, kuye ngesimo sakho.

Yini okufanele uyilindele uma uphila nalesi simo?

Uma une-Cowden syndrome, umeluleki wakho wezakhi zofuzo uzokusiza uqonde imiphumela yokuhlolwa kwakho kwezakhi zofuzo. Uma ukuhlolwa kwakho kwezakhi zofuzo kwembula ukuthi une-PTEN hamartoma tumor syndrome (PHTS), bazochaza nokuthi yiziphi izivivinyo zomdlavuza ozidingayo. Ungase ube neminyaka emincane kunomuntu ojwayelekile .Kungase kudingeke uqale ukuthola lezi zivivinyo zomdlavuza. Kodwa-ke, ngokwenza lezi zivivinyo njalo, ungathola umdlavuza ngaphambi kokuba ube nezimpawu.

Iyini isikhathi sokuphila kwabantu abane-Cowden Syndrome?

Isikhathi sokuphila nge-Cowden syndrome sincike ezimweni zakho. Isibonelo, uma utholakala unomdlavuza webele usemncane futhi ususakazekile, isikhathi sakho sokuphila singase sibe sifushane kunomuntu otholakale enomdlavuza kusenesikhathi futhi welashwa. Kodwa-ke, ukuthola ukuhlolwa komdlavuza okunconywayo kungakusiza ukuthi uvimbele umdlavuza ukuthi ungakhuli, noma okungenani uwuthole usesesigabeni sokuqala lapho ungelashwa.

Ngizinakekela kanjani? / Uzinakekela kanjani?

Uma une-Cowden syndrome, kubalulekile ukuthi uhlolwe njalo ngomdlavuza ukuze kutholakale umdlavuza ngaphambi kokuba ube nezimpawu. Buza udokotela wakho ukuthi kukhona yini izimpawu ezithile okufanele uziqaphele ezingaba umdlavuza. Uma une-Cowden syndrome, buza umeluleki wakho wezakhi zofuzo ukuthi amanye amalungu omndeni kufanele yini nawo ahlolwe izakhi zofuzo.

Ingabe kufanele ngibone udokotela? / Ingabe kufanele ngibone udokotela?

Yebo, impela. I-Cowden syndrome, ikakhulukazi uma kutholakale ukuthi une-"germline PTEN mutation" noma i-"PTEN hamartoma tumor syndrome (PHTS)," ihlotshaniswa nezinhlobo eziningi zomdlavuza. Ithimba lakho lezokwelapha lizoqapha impilo yakho iyonke kanye nemiphumela yokuhlolwa komdlavuza okuvamile.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami? / Yimiphi imibuzo okufanele uyibuze udokotela wakho?

Kungumqondo omuhle ukubuza imibuzo efana nale uma ubona udokotela wakho:

• "Ngithole uhlobo olulodwa lomdlavuza ngenxa yalesi simo. Kungenzeka yini ukuthi ngithole ezinye izinhlobo zomdlavuza?"
• "Ukuhlolwa kwezakhi zofuzo kubonisa ukuthi nginezakhi zofuzo ze-'PTEN' eziguquliwe. Ingabe wonke umndeni wami kufanele uhlolwe lesi sakhi sofuzo?"
• "Ingabe lesi simo singabathinta abantwana enginabo esikhathini esizayo?"
• "Nginesifo i-Cowden syndrome, kodwa anginayo i-'PTEN' mutation. Ngakho-ke yiziphi ezinye izinguquko zofuzo ezingadala lokhu?"
• "Ukuhlolwa kwezakhi zofuzo kubonisa ukuthi nginezakhi zofuzo eziguqukile ezibangela i-Cowden syndrome. Ingabe lokho kuzongenza ngibe nomdlavuza?"

I-Cowden syndrome iyisifo esingavamile, esidluliselwa ngofuzo okunzima ukusithola. Kungcono ukubona isazi sezakhi zofuzo ukuze uthole ukuthi une-PTEN hamartoma tumor syndrome (PHTS) ngempela. Odokotela bakho bangabe sebehlela uhlelo lokwelashwa oluhambisana nesimo sakho. Ngezinye izikhathi, uma ukuhlolwa kwezakhi zofuzo kungatholi ukuguqulwa kwe-PTEN, kungadingeka ukuthi ube nokuhlolwa okuningana okuhlukene ukuze kunqunywe ezinye izimo. Umeluleki wakho wezakhi zofuzo uzokuqondisa ukuthi yini okufanele uyenze ngokulandelayo.

Kungaba umcabango owesabekayo ukwazi ukuthi kukhona okungahambi kahle emzimbeni wakho, kodwa awazi ukuthi kuyini noma ukuthi wenzeni ngakho. Uma uthola ukuthi une-Cowden syndrome, kuzodingeka uphile ngolwazi lokuthi ungase ube nezinhlobo ezahlukene zomdlavuza impilo yakho yonke. Ngisho noma wazi ukuthi kunezivivinyo ezingabona umdlavuza ngaphambi kokuba kuvele izimpawu, umcabango ungaba owesabekayo ngempela. Uma unalesi simo, ithimba lakho lezokwelapha lizohlala liqapha impilo yakho kanye nemiphumela yokuhlolwa. Bazothatha isinyathelo esisheshayo sokwelapha umdlavuza ngaphambi kokuba usakazeke. Ngakho-ke, kubalulekile ukuba nesibindi, ulandele iseluleko sikadokotela wakho, futhi uthole ukuhlolwa njalo.

Ukufingqa konke (Umyalezo Wokuya Ekhaya)

Kulungile, ake sibheke ezinye zezinto ezibaluleke kakhulu okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-Cowden Syndrome yisimo esingavamile sofuzo esibangela ukwakheka kwamaqhubu angewona umdlavuza (ama-hamartoma) emzimbeni, kanye nengozi eyengeziwe yokuthola izinhlobo ezithile zomdlavuza (ikakhulukazi umdlavuza webele, i-thyroid, kanye nowesibeletho).
• Lokhu akulona umdlavuza ngqo, kodwa kubaluleke kakhulu ukuhlolwa njalo ngenxa yengozi yomdlavuza .
• Izimpawu ziyahlukahluka. Eziyinhloko ikhanda elikhulu (i-macrocephaly) kanye namaqhubu athile esikhumbeni nasemlonyeni. Lezi zimpawu zodwa azibonisi ukuthi lesi sifo sikhona, futhi ukuxilongwa kwenziwa ngokusekelwe ezindleleni zezokwelapha.
• Lesi simo sivame ukuhlotshaniswa nezinguquko ku-'PTEN' yesakhi sofuzo. Ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa kwezakhi zofuzo kubaluleke kakhulu kulokhu.
• Ukwelashwa kugxile kakhulu ekutholakaleni nasekulashweni komdlavuza kusenesikhathi . Ngakho-ke, thola izivivinyo (ama-mammogram, ama-ultrasound, njll.) ezinconywe udokotela wakho ngesikhathi.
• Uma unokungabaza ngalesi simo, noma uma othile emndenini wakho enalezi zimpawu, ungangabazi ukubona udokotela futhi ucele iseluleko. Kubaluleke kakhulu ukwaziswa nokuthatha isinyathelo kusenesikhathi.

Khumbula, ukuphila nalesi simo kungaba yinselele, kodwa ngokuphathwa kahle kwezokwelapha nokusekelwa, ungakwazi ukubhekana naso. Awuwedwa.

I- Cowden Syndrome, Izifo Zofuzo, Ingozi Yomdlavuza, I-PTEN Gene, Amaqhubu Esikhumba, I-Hematoma, Izifo Ezizuzwe Njengofuzo, Ukuhlolwa Komdlavuza