Unoziva nezveCowden Syndrome here? Ngatitaurei nezvazvo zviri nyore!

Wakaona mapundu madiki asingawanzoitika mumuviri wako here? Kana kuti pamwe wakanzwa kuti mumwe munhu mumhuri yako akabatwa nekenza achiri mudiki. Dzimwe nguva pane chirwere chemajini chisingawanzoitika chiri shure kwezvinhu izvi. Chimwe chezvirwere zvakadaro iCowden Syndrome. Tingataura nezvazvo zvakadzama nhasi here?

Chii chinonzi Cowden Syndrome?

Zvichitaurwa zviri nyore, chirwere cheCowden chirwere chisingawanzoitiki chinopfuudzwa kuburikidza nemajini edu. Vanhu vane chirwere ichi vane mukana mukuru wekukura bundu risingaite kenza. Zvisinei, vari panjodzi yakakura yekubatwa nemamwe marudzi ekenza.

Izvi zvakajairika zvakadii?

Kwete chaizvo. Chirwere ichi, chinonzi Cowden Syndrome, hachiwanzoitiki . Sekureva kwenyanzvi dzezvekurapa, chinobata munhu mumwe chete pavanhu mazana maviri ezviuru. Zvisinei, dzimwe nguva zviratidzo zvacho hazvizivikanwe zvakanyanya, saka chinogona kusaonekwa.

Saka Cowden Syndrome igomarara here?

Kwete, chirwere cheCowden hachisi kenza. Zvisinei, vanhu vane chirwere ichi vane mukana mukuru wekuwana mamwe marudzi ekenza , uye vanogonawo kuwana vachiri vadiki pane zvakajairika (kutanga kwekutanga) . 'Kutanga kwekutanga' zvinoreva kuti chirwere ichi chinokura pazera diki pane zvakajairika. Semuenzaniso, mukadzi ane chirwere cheCowden anogona kuwana kenza yemazamu asati asvitsa makore makumi mana. Kenza yemazamu haiwanzoonekwa asati asvitsa makore makumi matanhatu. Kune mamwe marudzi ekenza anogona kunge akabatana nechirwere ichi:

• Kenza yechibereko (kenza yechibereko)
• Kenza yethyroid (kunyanya rudzi runonzi `follicular thyroid cancer`)
• Kenza yemudumbu
• Kenza yeitsvo
• Melanoma, kenza yeganda

Chii chinosiyanisa Cowden Syndrome nePTEN hamartoma tumor syndrome?

Iyi inyaya yakadzama, asi ndichairamba iri nyore. `PTEN hamartoma tumor syndrome (PHTS)` iboka rezviratidzo zvinogara nhaka zvinokonzerwa nekuchinja (kuchinja) mujini re`PTEN`. Munhu mumwe chete pavanhu vana vane Cowden syndrome akawanikwa aine kuchinja uku mujini re`PTEN`.

Zvisinei, nekuti zviratidzo zvezvose zvakafanana, kana uine Cowden syndrome kana chimwe chirwere chakafanana, chiremba wako achakubata sekunge une PHTS. Izvi zvinodaro nekuti kuongororwa kenza nguva nenguva kwakakosha mune zvese zviri zviviri.

Ndezvipi zviratidzo zveCowden Syndrome?

Zviratidzo zvechirwere ichi zvinowanzotanga kuonekwa mumuviri mumakore ekuma1920. Vamwe vanhu vanongoona kuti vane chirwere cheCowden pavanotsvaga rubatsiro rwechiremba, kungave nekuda kwemapundu anonzi hamartomas kana nekuda kwegomarara rinokura vachiri vadiki.

Hamartomas (inodudzwa kuti 'ha-ma-to-mas') ndiwo anonyanya kuonekwa uye anozivikanwa neCowden syndrome. Aya mabundu asina kenza, akafanana nebundu. Anogona kukura chero kupi zvako mumuviri, mukati nekunze. Anowanzo kuwanikwa pamutsipa, kumeso, nemusoro wemusoro.

Kune zvimwe zviratidzo:

• Kuva nemusoro wakakura kupfuura wakajairika (macrocephaly) .
• Mapundu madiki, akatsetseka paganda (trichilemmomas).
• Bvisa mapundu akaita semapundu pasi petsoka, zvanza, nekumashure kwemaoko (acral keratosis).
• Kukura kwakaita semapundu parurimi, matadza, kumashure kwehuro, uye matonsi (`oral papillomatosis`).

Asi zvakakosha kuyeuka izvi: Kungova nezvimwe zvezviratidzo izvi hazvirevi kuti une chirwere cheCowden. Vanachiremba vanowanzo fungidzira chirwere ichi kana uine musanganiswa wezviratidzo izvi .

Chii chinokonzera chirwere cheCowden?

Cowden syndrome inokonzerwa nemamwe majini anochinja-chinja aunotora nhaka. Zvichitaurwa zviri nyore, majini anodzora kukura, kupatsanurana, uye kufa kwemasero mumuviri wedu. MuCowden syndrome, nekuda kwekusakwana kwemajini aya, masero asina kujairika anokura asingadzoreki uye anoramba aripo panguva yaanofanira. Pakupedzisira, masero aya anobatana kuti aumbe bundu risiri rekenza rinonzi hamartomas.

Masayendisiti achiri kutsvaga shanduko dzemajini dzinowedzera njodzi yekubatwa negomarara iri, majini ane chekuita neCowden syndrome. Vamwe vanhu vane Cowden syndrome havana shanduko mujini re'PTEN'. Muvanhu vashoma, shanduko dzakawanikwa mune mamwe majini, akadai se'PIK3CA/AKT1`, 'SDHB-D`, 'KLLN` uye 'SEC23B`. Saka, vaongorori vezvekurapa vari kuramba vachiongorora izvi.

Izvi zvinopfuudzwa sei kubva kuzvizvarwa kusvika kuzvizvarwa?

Vanhu vane chirwere cheCowden vanowana chirwere ichi nenzira inonzi "autosomal dominant pattern." Izvi zvinoreva kuti unowana jini rakajairika kubva kune mumwe wevabereki vako chaivo uye jini rakachinja kubva kune mumwe mubereki. Izvi zvinoreva kuti mwana wega wega ane mukana we50% wekuwana jini rakachinja.

Ndezvipi zvinhu zvinokonzera njodzi yeCowden Syndrome?

Chinhu chikuru chinopa njodzi chakaonekwa kusvika pari zvino inhoroondo yemhuri . Izvi zvinoreva kuti kana mumwe munhu mumhuri yako aine chirwere cheCowden, une mukana wakakura wekuwanawo chirwere ichi.

Ndezvipi zvinetso zvinogona kuitika nekuda kwechirwere ichi?

Kana uine chirwere cheCowden syndrome, une mukana wakawanda wekuwana mamwe marudzi ekenza. Uyewo, unogona kuwana kenza uri mudiki , kana mhando dzinopfuura imwe dzekenza muhupenyu hwako.Zvinogona kuitika panguva dzakasiyana, saka zvakakosha kutaura nachiremba wako nezvekuti unofanira kuongororwa kenza riini uye kangani.

Vanachiremba vanoongorora sei chirwere cheCowden Syndrome?

Cowden syndrome chirwere chakaoma chine zviratidzo zvakawanda uye zvimwe zvirwere zvinoenderana nacho. Kunyangwe uine chimwe chezviratidzo izvi kana kupfuura, hazvirevi hazvo kuti une Cowden syndrome.

Kuti vaongorore chirwere cheCowden, vanachiremba vanofananidza chirwere chako nezviyero zvekuongorora zvakagadzirwa navanachiremba vanoongorora zvirwere zvegomarara zvakagarwa nhaka. Mukuita uku, chirwere chako chinoenderana nezviyero zvikuru nezviyero zvidiki . Unoonekwa uine chirwere cheCowden kana uine musanganiswa chaiwo wezviyero izvi.

Vanachiremba vanogona kufungidzira kuti une Cowden syndrome kana:

• Kunze kwe "macrocephaly" (musoro mukuru), pane zvinhu zvitatu zvikuru zvinodiwa .
• Kuva nechipimo chimwe chete chikuru kana zvitatu zvidiki .
• Kuva nezvinodiwa zvidiki zvina .
• Mumwe wehama dzako ane chirwere cheCowden syndrome kana chimwe chakafanana nacho chakadai seBannayan-Riley-Ruvalcaba syndrome (BRRS).

Zvinodiwa zveCowden Syndrome

Heano mamwe emitemo mikuru nemidiki iyo vanachiremba vanofunga nezvayo:

Zvinodiwa zvikuru:

• Kenza yemazamu
• Kenza yechibereko
• Kenza yefollicular thyroid
• Kuva nehamartomas dzakawanda mudumbu (GI) tract
• Macrocephaly - (kutenderera kwemusoro kunopfuura kukosha kwakatarwa)
• Kuvapo kwemavara matema (pigmented macules) panhengo yemurume ye glans
• Kana ganda rikatorwa roongororwa (biopsyed), rinoratidza zviratidzo zve "trichilemmoma"
• Kuva neganda rakakora rakawanda (palmoplantar keratosis) pamaoko netsoka
• Kuva nezvipembenene zvakawanda zvakaita semapundu (`papillomatosis`) mumuromo (mucosal yemuromo)
• Kuwanda kwemapundu akaita semapundu (`papules`) paganda rechiso (`cutaneous facial`)

Zvidimbu zvidiki:

• Kenza yemudumbu
• Esophageal glycogenic acanthosis (ichi chirwere chaicho chinoitika mugurokuro)
• Dambudziko reAutism spectrum
• Kuremara pakudzidza
• Kenza yethyroid yePapillary
• Matambudziko e thyroid (semuenzaniso goiters, adenomas)
• Kenza yeitsvo
• Matumbu ane mafuta (`Lipomas`)
• Kuva ne "hamartoma" imwe chete mudumbu
• Mafuta ari mumachende (`Testicular lipomatosis`)

Kana chiremba wako achifunga kuti une Cowden syndrome, achakubvunza nezvenhoroondo yemhuri yako uye anogonawo kuraira kuongororwa kwemajini kuti aone kana uine genetic mutation.

Unofanira kuitei kana uchifunga kuti une chirwere ichi?

Kana uine zviratidzo izvi, zvakakosha kuona nyanzvi yezvemajini kuti ikupe mazano . Vanogona kusarudza kana uchida kuita zvinhu zvakaita sekuongororwa kwemajini ePTEN. Vanogona zvakare kukutumira kune nyanzvi yezvemajini . Nyanzvi yezvemajini inogona kukubatsira kunzwisisa kuti mamiriro ezvemajini akadai sePTEN mutation angakukanganisa sei. Vanogonawo kutsanangura mhedzisiro yekuongororwa kwemajini uye kuti ndeapi maekisesaizi aunoda kana uine PTEN hamartoma tumor syndrome (PHTS). Nekuti Cowden syndrome chirwere chisingawanzoitiki, zvakanaka kutsvaga timu kana nzvimbo inyanzvi muPHTS neCowden syndrome.

Vanachiremba vanorapa sei chirwere cheCowden Syndrome?

Cowden syndrome chirwere chinokonzerwa nezvirwere zvakasiyana-siyana, kusanganisira matambudziko eganda nekenza. Kazhinji, vanhu vanozoona kuti vane Cowden syndrome pavanenge vachirapwa chimwe chirwere chine chekuita nechirwere ichi.

Zvisinei, zvakakosha kuti vanhu vane chirwere cheCowden syndrome, asi vasina kenza parizvino , vaongororwe kenza nguva nenguva . Heano mimwe mienzaniso mishoma:

• Kune kenza yemazamu: Kuongororwa kwemazamu gore rega rega kutanga pazera remakore makumi matatu. Kuongororwa kwemagineti (MRI) kunogonawo kukurudzirwa kune avo vane mazamu akakora.
• Kune kenza yethyroid: Ultrasound yegore negore ye thyroid inotanga pazera remakore manomwe. Zvisinei, kana uine zviratidzo (semuenzaniso, ganda re thyroid, kuoma kumedza), ungangoda kuongororwa uku kare.

Saizvozvowo, chiremba wako anogonawo kukurudzira kuongororwa kwemamwe marudzi ekenza (semuenzaniso, kenza yemuchibereko, yeitsvo, yeura) nguva nenguva, zvichienderana nemamiriro ako ega.

Chii chaunofanira kutarisira paunenge uchirarama nechirwere ichi?

Kana uine chirwere cheCowden, mupi wezano wako wezvemajini achakubatsira kunzwisisa mhedzisiro yekuongororwa kwemajini ako. Kana kuongororwa kwemajini kwako kukaratidza kuti une PTEN hamartoma tumor syndrome (PHTS), vachakutsanangurirawo kuti ndeapi maedzo egomarara aunoda. Ungave uine zera diki pane munhuwo zvake .Ungangofanira kutanga kuongororwa kenza iyi. Zvisinei, nekuongorora kenza iyi nguva dzose, unogona kuwana kenza usati watombova nezviratidzo.

Vanhu vane Cowden Syndrome vanotarisirwa kurarama hupenyu hwakaita sei?

Nguva yekurarama neCowden syndrome inoenderana nemamiriro ako ezvinhu. Semuenzaniso, kana ukaonekwa uine kenza yemazamu uri mudiki uye yapararira, nguva yekurarama kwako inogona kunge iri pfupi pane yemunhu akaonekwa aine kenza nekukurumidza ndokurapwa. Zvisinei, kuongororwa kenza kunokurudzirwa kunogona kukubatsira kudzivirira kenza kuti isatange, kana kuti kuibata ichiri kutanga painorapwa.

Ndinozvitarisira sei? / Unozvitarisira sei?

Kana uine chirwere cheCowden, zvakakosha kuti ugare uchiongororwa kenza kuti uone kenza usati wava nezviratidzo. Bvunza chiremba wako kana paine zviratidzo zvaunofanira kungwarira zvinogona kunge zviri kenza. Kana uine chirwere cheCowden, bvunza mupi wezano wezvemajini kana vamwe vemumhuri yako vachifanirawo kuongororwa majini.

Ndinofanira kuona chiremba here? / Ndinofanira kuona chiremba here?

Ehe, zvechokwadi. Cowden syndrome, kunyanya kana ukaonekwa uine ``germline PTEN mutation`` kana ``PTEN hamartoma tumor syndrome (PHTS),`` inobatanidzwa nemhando dzakawanda dzekenza. Chikwata chako chekurapa chichanyatsoongorora hutano hwako hwese pamwe nemigumisiro yekuongororwa kwekenza nguva dzose.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu? / Mibvunzo ipi yaunofanira kubvunza chiremba wako?

Zvakanaka kubvunza mibvunzo yakaita seiyi kana waona chiremba wako:

• "Ndakaita kenza yerudzi rumwe chete nekuda kwechirwere ichi. Zvinoita here kuti ndiite mamwe marudzi ekenza?"
• "Kuongororwa kwemajini kunoratidza kuti ndine jini re'PTEN' rakachinja. Vamwe vese vemhuri yangu vanofanira kuongororwa jini iri here?"
• "Chirwere ichi chingakanganisa vana vandichava navo mune ramangwana here?"
• "Ndine chirwere cheCowden, asi handina `PTEN` mutation. Saka ndedzipi dzimwe shanduko dzemajini dzinogona kukonzera izvi?"
• "Kuongororwa kwemajini kunoratidza kuti ndine jini rakachinja-chinja rinokonzera Cowden syndrome. Izvozvo zvichaita kuti ndive negomarara here?"

Cowden syndrome chirwere chisingawanzoitiki, chinogara nhaka uye chinonetsa kuona. Zvakanaka kuona nyanzvi yezvemajini kuti uzive kana uine PTEN hamartoma tumor syndrome (PHTS). Vanachiremba vako vanogona kuronga hurongwa hwekurapa hwakagadzirirwa mamiriro ako. Dzimwe nguva, kana kuongororwa kwemajini kukasawana PTEN mutation, ungangoda kuongororwa kwakasiyana-siyana kuti ubvise mamwe mamiriro ezvinhu. Mupi wezano wako wezvemajini achakutungamira pane zvekuita zvinotevera.

Zvinogona kuva pfungwa inotyisa kuziva kuti pane chimwe chinhu chisina kumira zvakanaka mumuviri wako, asi usingazive kuti chii kana kuti woita sei nezvazvo. Kana ukaona kuti une Cowden syndrome, uchafanira kurarama neruzivo rwekuti unogona kuva nekenza yemhando dzakasiyana-siyana kweupenyu hwako hwese. Kunyangwe uchiziva kuti kune bvunzo dzinogona kuona kenza zviratidzo zvisati zvaonekwa, pfungwa yacho inogona kutyisa zvikuru. Kana uine chirwere ichi, timu yako yezvekurapa ichagara ichitarisa hutano hwako nemigumisiro yebvunzo. Vachakurumidza kutora matanho ekurapa kenza isati yapararira. Saka, zvakakosha kuva neushingi, kutevedzera zano rachiremba wako, uye kugara uchiongororwa.

Kupfupisa zvese (Mharidzo Yekuenda Kumba)

Zvakanaka, ngatitarisei zvimwe zvezvinhu zvakakosha zvaunofanira kurangarira kubva pane zvatataura nezvazvo:

• Cowden Syndrome chirwere chisingawanzoitiki chinokonzera mapundu asiri ekenza (hamartomas) mumuviri, pamwe nekuwedzera njodzi yekubatwa nekenza yemhando dzakasiyana (kunyanya kenza yemazamu, thyroid, uye uterine).
• Iyi haisi kenza chaiyo, asi zvakakosha kuti munhu agare achiongororwa nekuda kwenjodzi yekubatwa nekenza .
• Zviratidzo zvinosiyana. Zvikuru imusoro mukuru (macrocephaly) uye mapundu chaiwo paganda nemuromo. Zviratidzo izvi chete hazvireve kuti chirwere chacho chiripo, uye kuongororwa kunoitwa zvichienderana nezvinodiwa nachiremba.
• Dambudziko iri rinowanzobatanidzwa nekuchinja kwejini `PTEN`. Kuongororwa kwemajini uye kupihwa mazano emajini zvakakosha zvikuru mune izvi.
• Kurapa kunonyanya kutarisisa pakuona kenza nekukurumidza uye kurapa . Saka, tora bvunzo (mammograms, ultrasound, nezvimwewo) dzaunokurudzirwa nachiremba wako nenguva.
• Kana muine kusava nechokwadi nezvechirwere ichi, kana kuti kana mumwe munhu mumhuri menyu aine zviratidzo izvi, musazeza kuona chiremba uye kutsvaga mazano. Zvakakosha zvikuru kuziviswa uye kutora matanho nekukurumidza.

Yeuka, kurarama nechirwere ichi kunogona kuoma, asi kana ukapihwa rubatsiro rwechiremba uye uchitarisirwa zvakanaka, unogona kuchigadzirisa. Hausi wega.

Cowden Syndrome, Zvirwere zveMajini, Njodzi yeKenza, Gene rePTEN, Mapundu eganda, Hematoma, Zvirwere zveNhaka, Kuongororwa kweKenza