Kodi matenda a Tuberous Sclerosis ndi chiyani? Musachite mantha, tiyeni tikambirane za matendawa.

Kodi mukuda nkhawa ndi mawanga oyera a mwana wanu? Kapena mukuda nkhawa kuti mwana wanu azidwala matenda otupa ziwalo pafupipafupi? Chifukwa cha zizindikirozi chikhoza kukhala vuto losowa. Lero tikambirana za vuto limodzi losowa koma lotheka kulithetsa. Ndi chifuwa chachikulu.

Mwachidule, kodi tuberous sclerosis ndi chiyani?

Tuberous Sclerosis Complex (TSC) ndi matenda osowa kwambiri omwe amayambitsa zotupa zopanda khansa m'thupi lonse, makamaka m'ziwalo monga ubongo, khungu, impso, mtima, ndi mapapo. Ndikofunikira kukumbukira kuti iyi si khansa .

Mmene matendawa amakhudzira munthu aliyense zimasiyana kwambiri. Anthu ena amakhala ndi zizindikiro zochepa ndipo amakhala moyo wabwinobwino. Koma kwa ena, vutoli likhoza kukhala lalikulu kwambiri. Chifukwa chake, mavuto aakulu amatha kuchitika.

Matendawa amayamba pang'onopang'ono pakapita nthawi. Ngakhale kuti zizindikiro zina zingawonekere ali mwana, zina zingatenge zaka kuti ziwonekere. Chifukwa chake, ndikofunikira kwambiri kuti munthu amene ali ndi vutoli azikhala pansi pa utsogoleri wa dokotala moyo wake wonse.

Ndani amene amakhudzidwa kwambiri ndi matendawa?

Imeneyi ndi vuto lobadwa nalo. Nthawi zambiri, mwana amapezeka ndi matendawa ali ndi miyezi pafupifupi 7. Komabe, zingatenge zaka kuti matendawa apezeke mwa anthu omwe ali ndi zizindikiro zochepa. Aliyense akhoza kudwala matendawa, mosasamala kanthu za jenda, mtundu, kapena chipembedzo. Akuti anthu pafupifupi miliyoni imodzi padziko lonse lapansi ali ndi matendawa.

Kodi zizindikiro za tuberous sclerosis ndi ziti?

Zizindikiro nthawi zambiri zimadalira chiwalo chomwe chotupacho chili. Tiyeni tigawane zizindikirozi m'magulu atatu akuluakulu.

1. Zizindikiro zokhudzana ndi ubongo

2. Zizindikiro zokhudzana ndi khungu

3. Zizindikiro zokhudzana ndi ziwalo zina za thupi

1. Zizindikiro zokhudzana ndi ubongo

Matenda ofala kwambiri a matendawa ali mu ubongo. Ngakhale kuti matendawa si a khansa, amatha kusokoneza ntchito ya ubongo.

• Kugwidwa ndi khunyu: Ichi ndi chizindikiro chofala kwambiri komanso choopsa. Pali mitundu yosiyanasiyana ya khunyu yomwe ingachitike.
• Zotupa muubongo: Zotupa (Subependymal giant cell astrocytoma - SEGA) zimatha kuchitika m'ma ventricles a ubongo. Ngati izi zikukula, madzi amatha kusonkhana muubongo, zomwe zimayambitsa matenda otchedwa hydrocephalus.
• Kuchedwa kukula ndi mavuto a m'maganizo: Si aliyense amene ali ndi vutoli, koma ana ena amakumana ndi mavuto a kuphunzira komanso kuchedwa kulankhula.
• Mavuto a khalidwe:Matenda monga autism spectrum disorder kapena attention deficit hyperactivity disorder (ADHD) amatha kuchitika limodzi ndi matendawa.

2. Zizindikiro zokhudzana ndi khungu

Matendawa nthawi zambiri amapezeka koyamba kudzera mu zizindikiro za pakhungu. Pafupifupi 90% ya anthu omwe ali ndi matendawa amakumana ndi chimodzi kapena zingapo mwa zizindikiro izi:

3. Makhalidwe okhudzana ndi ziwalo zina za thupi

• Mavuto a impso:Miyala kapena ma cysts a impso amatha kupangika mu impso. Izi zingayambitse kulephera kwa impso, kupweteka kwa msana kapena chiuno, komanso magazi mu mkodzo. Nthawi zambiri, kulephera kwa impso kapena khansa ya impso (renal cell carcinoma) kumachitika.
• Matenda a mtima otchedwa rhabdomyomas: Izi zimapezeka kwambiri mwa ana aang'ono. Nthawi zambiri zimachepa mwana akamakula. Komabe, zotupa zina zazikulu zimatha kuletsa magazi kupita kumtima.
• Mavuto a maso: Ngakhale kuti zotupa zimatha kupangika mu retina ya diso, mavuto a masomphenya ndi osowa kwambiri.
• Kusintha kwa pakamwa: Mungaone zinthu monga ziphuphu zazing'ono pakamwa kapena mano oboola m'mano.

Kodi n’chiyani chimayambitsa matenda a chifuwa chachikulu (tuberous sclerosis)?

Mwachidule, izi zimachitika chifukwa cha kusintha kwa majini. Pali mapuloteni m'thupi lathu omwe amalamulira kukula ndi kugawikana kwa maselo. Mu matendawa, pali vuto m'majini lomwe limawalangiza kupanga mapuloteni awa (otchedwa majini a TSC1 kapena TSC2). Kenako maselo amakula mosalamulirika ndikupanga ziphuphu.

Pali njira ziwiri zomwe vutoli limachitikira:

1. Mosakhalitsa: Nthawi zambiri (pafupifupi magawo awiri pa atatu), vuto la majini limeneli limachitika mwatsopano. Ndiko kuti, mayi kapena bambo sali ndi matendawa. Vuto la majini limeneli limachitika mwangozi mwana akangotenga pakati.

2. Cholowa: Pafupifupi gawo limodzi mwa magawo atatu a milandu, mwana amalandira matendawa kuchokera kwa kholo lomwe lili ndi matendawa.

Kodi mungazindikire bwanji matendawa?

Dokotala amazindikira matendawa pofufuza zizindikiro. Zizindikirozi zimagawidwa m'magulu awiri: "mawonekedwe akuluakulu" ndi "mawonekedwe ang'onoang'ono."

Nthawi zina, chifukwa zizindikiro zimakula pakapita nthawi, matendawa amatha kufotokozedwa ngati "TSC yotheka."

Zina mwa mayeso omwe amagwiritsidwa ntchito pozindikira matendawa ndi awa:

• Kwa ubongo: Kujambula ubongo ndi MRI kapena CT, EEG test kuti muwone ngati pali khunyu.
• Kwa khungu: Kuwunika khungu, makamaka kuunika nyali ya Wood kuti muwone bwino mawanga oyera.
• Kwa impso: Kujambula m'mimba ndi ultrasound kapena MRI scan.
• Kwa mtima: Echocardiogram.
• Kuyezetsa majini: Kuyezetsa magazi kungatsimikizire ngati pali vuto mu majini a TSC1 kapena TSC2.

Dokotala wanu adzasankha mayeso ofunikira kutengera zizindikiro zanu.

Kodi mankhwala ochizira izi ndi otani?

Matenda a chifuwa chachikulu (tuberous sclerosis) sangachiritsidwe kotheratu. Komabe, pali mankhwala othandiza oletsa ndi kuchiza zizindikiro. Chithandizo chimadalira mtundu wa zizindikirozo.

• Mankhwala:
• Kuletsa khunyu: Pali mitundu yosiyanasiyana ya mankhwala a khunyu.
• Kuchepetsa zotupa: Mankhwala otchedwa mTOR inhibitors amatha kulamulira kukula kwa zotupa mu ubongo, impso, ndi malo ena ndikuzichepetsa.
• Opaleshoni: Nthawi zina, zotupa zazikulu zomwe zimawononga ziwalo zingafunike kuchotsedwa opaleshoni. Ndikofunikira kwambiri kuchotsa zotupa zomwe zikuletsa kuyenda kwa madzi muubongo.
• Chithandizo cha matenda a khungu: Anthu ena angachite manyazi ndi maonekedwe a ziphuphu pankhope ndi pakhungu. Mankhwala monga laser skin resurfacing ndi dermabrasion angachepetse mawonekedwe awo.
• Mankhwala ena: Mankhwala monga kulankhula ndi ntchito zimathandizanso kwambiri kwa ana omwe ali ndi vuto la kukula mochedwa.

Kodi mungayembekezere chiyani mukakhala ndi matendawa?

Anthu ambiri omwe ali ndi matendawa amafunika kuyesedwa ngati MRIs kamodzi pa chaka chimodzi kapena ziwiri, makamaka ali ana, kuti aone kukula kwa zotupa.

Zotsatira za matendawa zimasiyana kwambiri pakati pa munthu ndi munthu.

• Anthu omwe ali ndi zizindikiro zochepa: Zizindikiro zake zimakhala zochepa kwambiri. Angafunike kumwa mankhwala. Koma akhoza kukhala moyo wabwinobwino popanda kusokoneza kwambiri miyoyo yawo.
• Omwe ali ndi mphamvu zochepa: Ngakhale kuti zizindikiro zimayambitsa kusokonezeka pang'ono, zimatha kuthandizidwa bwino ndi chithandizo komanso kuyang'aniridwa ndi dokotala nthawi zonse.
• Anthu okhudzidwa kwambiri: Anthuwa akhoza kukhala ndi khunyu lalikulu, matenda amisala, ndi zina zotero. Angavutike kukhala okha ndipo angafunike chithandizo chamankhwala nthawi zonse.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati inu kapena mwana wanu ali ndi matenda a TSC, ndikofunikira kuonana ndi dokotala nthawi zonse pa moyo wanu wonse. Izi zingathandize kuzindikira ndikuchiza mavuto atsopano msanga.

Kodi muyenera kupita ku Emergency Treatment Unit (ETU) liti?

Khunyu lomwe limatenga mphindi zoposa 5 (kukhala bwino) kapena khunyu zingapo motsatizana (status epilepticus) ndi vuto lachipatala. Zikatero, wodwalayo ayenera kutengedwera ku chipatala cha Emergency Treatment Unit (ETU) nthawi yomweyo.

Kuphatikiza apo, ngati mukupeza zizindikiro zomwe dokotala wanu wakuuzani kuti muzisamala nazo kwambiri (monga mutu waukulu, kupweteka kwa impso), funsani upangiri wa dokotala nthawi yomweyo.