Kodi Turcot Syndrome ndi chiyani? Kodi ingakukhudzeni? Tiyeni tikambirane mwatsatanetsatane!

Kodi mudamvapo za matenda osowa majini? Nthawi zina, matupi athu amatha kukhala ndi mavuto omwe sitikudziwa kuti tili nawo. Lero, tikambirana za vuto limodzi losowa kwambiri lomwe ndi lofunika kwambiri kulidziwa. Limatchedwa Turcot Syndrome.

Kodi Turcot Syndrome ndi chiyani kwenikweni?

Mwachidule, Turcot Syndrome ndi matenda osowa kwambiri omwe amabwera chifukwa cha majini. Amakhudza makamaka kukula kwa tinthu ting'onoting'ono (tomwe timatchedwanso ma polyps) m'thupi lathu, kutanthauza m'matumbo, ndi zotupa mu ubongo kapena msana. Tangoganizirani momwe zingakhalire zokhumudwitsa kukhala ndi mavuto m'malo awiri nthawi imodzi.

Ziphuphu zazing'onozi zikayamba m'matumbo, anthu ena amatha kukhala ndi zizindikiro monga kutuluka magazi m'matumbo, kutuluka m'mimba kwambiri (kutsegula m'mimba), komanso kupweteka m'mimba . Komanso, kutengera kukula ndi malo a chotupa muubongo kapena msana , zizindikiro za mitsempha monga mutu, kusawona bwino, kulephera kukhazikika, komanso kugwa pafupipafupi zimatha kuchitika.

Ofufuza ena azachipatala amakhulupirira kuti Turcot Syndrome ikhoza kukhala mtundu wa Familyal Adenomatous Polyposis (FAP). Komabe, izi sizinatsimikizidwebe. FAP ndi vuto lomwe ma polyp ambiri ang'onoang'ono amakula m'matumbo khansa isanayambe. Pakhoza kukhala kulumikizana pakati pa awiriwa, chifukwa odwala ena a Turcot Syndrome ali ndi kusintha kwa majini a APC. Kusintha kwa majini a APC kungayambitsenso FAP.

Izi n’zosowa kwambiri moti milandu yochepa kwambiri, pafupifupi 150, ndi yomwe yalembedwa m’mabuku azachipatala padziko lonse lapansi. Ndiye mutha kuganiza momwe izi zilili zachilendo.

Kodi iyi ndi matenda obadwa nawo? Kodi munthu amadwala bwanji?

Inde, Turcot Syndrome ndi matenda obadwa nawo a majini, zomwe zikutanthauza kuti amapatsirana kuchokera kwa makolo kupita kwa ana kudzera m'majini . Amayambitsidwa ndi kusintha kwina, kapena kusintha kwa majini athu. Angatikhudze m'njira ziwiri zazikulu:

1. Matenda a Turcot a Mtundu 1: Izi zimadziwikanso kuti matenda a Turcot "enieni". Amabadwa ngati khalidwe lodziyimira pawokha. Mwachidule, kuti mwana akhale ndi vutoli, makolo onse awiri ayenera kulandira kusintha kwa majini. Zili ngati kupambana lottery (koma si chinthu chabwino!). Mtundu uwu nthawi zambiri umayamba chifukwa cha kusintha kwa majini `(MLH1)` ndi `(PMS2)`.

2. Matenda a Turcutt a Mtundu Wachiwiri:Izi zimatengera cholowa ngati "khalidwe lolamulira la autosomal." Izi zikutanthauza kuti, mwana akhoza kukhala ndi matendawa ngakhale atalandira kusintha kwa majini kuchokera kwa kholo limodzi lokha, kaya mayi kapena bambo. Izi zimachitika chifukwa cha kusintha kwa majini a `(APC)``. Ntchito ya jini iyi ya `(APC)`` kwenikweni ndikuletsa kupangika kwa zotupa za khansa m'thupi lathu kapena kuziletsa kukula. Chifukwa chake jini imeneyo ikapanda kugwira ntchito bwino, mavuto amayamba.

Kodi zizindikiro zazikulu za matendawa ndi ziti?

Zizindikiro zazikulu za Turcot Syndrome ndi monga tafotokozera kale , ma polyp m'matumbo ndi chotupa chimodzi kapena zingapo mu ubongo kapena msana. Anthu ena amatha kukhala ndi ma polyp ambiri awa, zomwe zikutanthauza kuti amayamba kukula ali aang'ono kwambiri.

Zizindikiro za kukula pang'ono (ma polyps) m'matumbo

Chiwerengero cha tinthu tating'onoting'ono tomwe timamera mwa munthu chimasiyana malinga ndi munthu.

• Ma polyps amenewa omwe amapezeka mwa anthu omwe ali ndi matenda a Type 1 Turcotte syndrome amakhala ndi mwayi waukulu wopeza khansa.
• Anthu omwe ali ndi matenda a mtundu wa 2 Turcotte ali ndi mwayi waukulu wokhala ndi matenda otchedwa ``Familial Adenomatous Polyposis (FAP)`` omwe atchulidwa kale.

Tizilombo tating'onoting'ono (tinthenal polyps) tomwe timapangika m'matumbo tingayambitse zizindikiro monga:

• Kupweteka m'mimba
• Kudzimbidwa
• Kutsegula m'mimba
• Kutuluka magazi m'thupi
• Kuchepetsa thupi, ndiko kuti, kuchepetsa thupi

Zizindikiro za Zotupa za Ubongo/Msana

Zotupa zomwe zimakula mu ubongo kapena msana zimatha kukhudza dongosolo lathu la mitsempha (CNS). Dongosolo lathu la mitsempha ndi lomwe limayang'anira ntchito zambiri za thupi, kuphatikizapo ubongo ndi msana. Izi zingayambitse zizindikiro monga:

• Kutaya kulinganiza bwino, kugwa pafupipafupi (Mavuto a kulinganiza bwino)
• Mutu waukulu
• Kutaya kumva - dzanzi m'manja, miyendo, kapena ziwalo zina za thupi
• Kusanza kapena kusanza
• Kugwidwa ndi khunyu
• Mavuto a masomphenya, kuphatikizapo masomphenya awiri kapena masomphenya osawoneka bwino
• Kufooka m'mbali imodzi ya thupi lanu (monga mkono umodzi, mwendo umodzi, kapena mbali imodzi ya thupi lanu)

Makhalidwe ndi mitundu ina ya khansa yomwe ili ndi chiopsezo chowonjezeka

Anthu omwe ali ndi Turcot Syndrome nthawi zina amakhala ndi zotupa zamafuta zomwe sizili khansa (lipomas) kapena madontho ang'onoang'ono abulauni (café-au-lait spots) pakhungu .

Kuphatikiza apo, vutoli limawonjezera chiopsezo chotenga mitundu ina ya khansa ndi zotupa. Zofunika kwambiri ndi izi:

• Khansa ya m'matumbo
• Astrocytoma (mtundu wa chotupa cha muubongo)
• Ependymoma (mtundu wa chotupa chomwe chimayambira m'maselo omwe ali m'malo odzaza madzi mu ubongo ndi msana)
• Glioma (zotupa zomwe zimachokera ku maselo othandizira a ubongo)
• Glioblastoma (mtundu woopsa kwambiri wa khansa ya muubongo)
• Medulloblastoma (mtundu wa khansa yomwe imayamba mu cerebellum, kutanthauza kuti, m'munsi mwa ubongo pafupi ndi chigaza)
• Khansa ya basal cell ya pakhungu

Kodi matendawa amapezeka bwanji? (Kuzindikira)

Kuti adziwe ngati muli ndi Turcot Syndrome, dokotala wanu adzakuyesani mayeso angapo, makamaka poyang'ana ubongo wanu ndi madera ozungulira matumbo anu.

• Mayeso monga X-ray, MRI, ndi CT scan angachitike kuti aone ngati pali zotupa muubongo kapena ma polyp m'matumbo. Nthawi zina zapadera, PET scan ingalimbikitsidwenso.
• Colonoscopy: Izi zimaphatikizapo kulowetsa chubu chaching'ono, chowala kudzera mu anus kuti muwone mkati mwa matumbo akulu ndi rectum ngati pali vuto lililonse.
• Kuyezetsa kwa biopsy: Ngati chotupa chapezeka m'matumbo kapena muubongo, chidutswa chaching'ono cha minofu chimatengedwa ndikuwunikidwa pansi pa maikulosikopu.

Chofunika kwambiri, ngati m'modzi mwa makolo anu ali ndi Turcot Syndrome, muli ndi mwayi woti mufufuzidwe ngati muli ndi vutoli.

Pankhaniyi, dokotala angakulimbikitseni zinthu monga:

• Kuyesa kwa DNA: Kuyesa kwa majini kumeneku kumatha kuzindikira kukhalapo kwa majini osinthika omwe amayambitsa Turcotte syndrome.
• Sigmoidoscopy: Iyi imafufuza gawo la pansi la matumbo akuluakulu (sigmoid colon). Achinyamata omwe adalandira jini ya Turcotte syndrome akhoza kupitiriza kuyesedwa m'matumbo mpaka atakwanitsa zaka 35. Izi zimathandiza kuzindikira msanga ndi kuchiza zotupa zazing'ono (polyps) m'matumbo.

Kodi mankhwala a Turcot Syndrome ndi ati?

Chithandizo cha Turcot Syndrome chimasiyana malinga ndi zizindikiro.

Mungafunike kuchitidwa opaleshoni ya polypectomy kuti muchotse tinthu tating'onoting'ono (ma polyp) m'matumbo anu. Dokotala wanu angakulangizeninso opaleshoni zingapo kuti mulepheretse kuti tinthu tating'onoting'onoti tisapangidwenso. Mwachitsanzo:

• `Ileoproctostomy`: Matumbo akuluakulu amachotsedwa ndipo rectum ndi matumbo ang'onoang'ono zimalumikizana.
• `Ileostomy`:Chotupacho chimachotsedwa ndipo matumbo ang'onoang'ono amalumikizidwa ndi kunja kwa mimba (kuti pakhale njira yapadera yotulutsira ndowe).
• `Ileoanal anastomosis`: Imalumikiza matumbo ang'onoang'ono ndi thako.
• Kuchotsa ziwalo za m'mimba: Kuchotsa gawo kapena matumbo onse.
• `Proctocolectomy`: M'mimba ndi m'matumbo onse awiri zimachotsedwa.

Chithandizo cha zotupa mu ubongo kapena msana chimasiyana. Madokotala nthawi zambiri amayesa kuchotsa chotupacho. Pa chithandizo, amayesetsa kuchepetsa kuwonongeka kwa minofu yathanzi yozungulira. Kuti muchite izi:

• 'Chithandizo cha Mankhwala'
• Chithandizo cha radiation
• Opaleshoni

Njira zochizira monga:

Kodi inenso ndili pachiwopsezo chotenga matendawa?

Ngati m'modzi mwa makolo anu ali ndi Turcot Syndrome, muli ndi mwayi waukulu wopeza matendawa. Kapena, mwina ndinu wonyamula majini. Kukhala wonyamula majini kumatanthauza kuti mulibe zizindikiro, koma muli ndi jini yomwe imayambitsa vutoli, kotero ana anu akhoza kulipatsira.

Ngati mukukayikira kuti mwina muli ndi Turcot Syndrome, dokotala wanu angakulangizeni kuti muyesedwe DNA. Izi zitha kutsimikizira ngati pali kusintha kwa majini komwe kukufunika.

Kodi chimachitika ndi chiyani mukakhala ndi matendawa? Kodi ndi osachiritsika?

Mwatsoka, palibe mankhwala a Turcot Syndrome. Ngati muli ndi vutoli, chofunika kwambiri ndikugwira ntchito ndi dokotala wanu kuti akafufuze nthawi zonse za zotupa za muubongo ndi khansa ya m'matumbo. Mukazindikira msanga chinthu chonga khansa, mwayi wanu wopambana umakhala wabwino. Chifukwa chake, ndikofunikira kuti musachite mantha ndikutsatira malangizo a dokotala wanu.

Mafunso ofunikira oti mufunse dokotala wanu

Mungathe kufunsa dokotala wanu mafunso monga awa:

• Kodi ndi chifukwa chiyani chomwe chingayambitse zizindikiro zanga?
• Ndi mayeso ati omwe ndiyenera kuchita kuti ndidziwe ngati ndili ndi Turcot Syndrome?
• Kodi ndine wonyamula jini ya matendawa?
• Kodi njira zochiritsira Turcot Syndrome ndi ziti?
• Kodi chingachitike n’chiyani ngati sindilandira chithandizo?
• Kodi mwayi wanga woti ndikhale ndi mwana ndi Turcot Syndrome ndi wotani?

Kumbukirani, zotupa za muubongo monga glioblastoma nthawi zambiri sizimakhala zobadwa nazo. Komabe, anthu omwe ali ndi matenda obadwa nawo monga Turcot Syndrome nthawi zina amatha kukhala ndi zotupazi.

Pomaliza, zinthu zingapo zoti muzikumbukira

Turcot Syndrome ndi matenda osowa kwambiri, omwe amabadwa nawo omwe amayambitsa kukula pang'ono m'matumbo (polyps) ndi zotupa mu ubongo kapena msana. Chithandizo chimasiyana malinga ndi zizindikiro. Mungafunike opaleshoni kuti muchotse gawo la matumbo anu kapena chotupa mu ubongo wanu kapena msana. Ngakhale kuti palibe mankhwala a vutoli, kuyang'anira zizindikiro zanu, kuyezetsa nthawi zonse , komanso kulandira chithandizo msanga kungakuthandizeni kuthana ndi vutoli. Chifukwa chake, ndikofunikira kusamalira thanzi lanu.

Matenda a Turcot , matenda a majini, ma polyps a m'matumbo, zotupa muubongo, chiopsezo cha khansa, kuyezetsa majini