Mwachidule
Tuberous sclerosis (aka tuberous sclerosis complex) ndi matenda omwe amachititsa kuti tizilombo toyambitsa matenda tizilombo toyambitsa matenda, tizilombo, impso, mtima, mapapo, maso, chiwindi, kapangidwe, ndi khungu. Ziphuphuzi zingabweretse kuchepa kwachitukuko, matenda opweteka, matenda a impso ndi zina zambiri; Komabe, matendawa amatengera kukula kwa chotupa kapena kufalikira.
Pamapeto pake, ambiri omwe ali ndi vutoli amakhala ndi moyo wathanzi.
Kodi 'Tuberous Sclerosis' Imatanthauza Chiyani?
Ndi tuberous sclerosis, tubers kapena mbatata-monga zotupa zimakula mu ubongo. Zokwera izi potsiriza zimakhala zowerengedwa, zowuma, ndi zowonongeka. Tuberous sclerosis inapezeka zaka zoposa 100 zapitazo ndi dokotala wina wa ku France ndipo nthawi ina ankadziwika ndi mayina ena awiri: epiloia kapena matenda a Bourneville .
Kukula
Popeza tuberous sclerosis ndi yosavuta, zimakhala zovuta kufotokozera maulendo ake enieni. Zikuoneka kuti matendawa amakhudza pakati pa Amitundu 25,000 ndi 40,000 komanso pakati pa anthu awiri ndi awiri padziko lonse lapansi.
Chifukwa
Tuberous sclerosis ingatengedwe mwakuya kwambiri pa autosomal . Ndi matenda oopsa autosomal, kholo limodzi lokha liyenera kukhala ndi jeremusi ya mutated gene kudutsa matenda mpaka mwana kapena wamkazi. Momwemonso-ndipo kawirikawiri-tuberous sclerosis ikhoza kukhala ndi kusintha kwadzidzidzi kapena kusinthasintha kwapadera kwa munthu yemwe ali ndi vutoli, ndipo palibe kholo lomwe limanyamula jini mutation yomwe imayambitsa matenda a tuberous sclerosis.
Tuberous sclerosis imayambitsidwa ndi jini mutation kaya TSC1 kapena TSC2 , yomwe imayika hamartin kapena tuberin , motero. ( TSC1 ili pa chromosome 9, ndipo TSC2 ili pa chromosome 16.) Komanso, chifukwa geni la TSC1 liri pafupi ndi jini la PKD1 , motero kuwonjezera mwayi wa ma jini awiri omwe akukhudzidwa-anthu ambiri omwe amalandira tuberous sclerosis amakhalanso ndi ma autosomal dominant matenda a impso a polycystic (ADPKD).
Monga tuberous sclerosis, autosomal yaikulu ya polycystic matenda a impso amachititsa zotupa kukula mu impso.
Pogwiritsa ntchito makina, TSC1 ndi TSC2 zimawononga kulemberana ndi hamartin kapena tuberin zomwe zimatha kukhala ndi mapuloteni osiyanasiyana. Mapuloteniwa amapezeka m'munsi mwa cilia ndipo amachititsa kuti tizilombo toyambitsa matenda tizilombo toyambitsa matenda tizilombo toyambitsa matenda. Mwa kusokoneza mTOR, kupatukana kwa selo, kubwereza ndi kukula kumakhudzidwa, ndi kukula kosazolowereka kwa zotupa zimayambitsa. Chochititsa chidwi n'chakuti asayansi akuyesera kupanga mTOR inhibitors omwe angagwiritsidwe ntchito ngati mankhwala a tuberous sclerosis.
Zizindikiro
Tuberous sclerosis ndi yovuta ndipo imasonyeza kuti ndi zizindikiro zogwirizana ndi ziwalo zosiyanasiyana. Tiyeni tiwone zotsatira pa machitidwe anayi apadera: ubongo, impso, khungu ndi mtima.
Kuphatikizidwa kwa ubongo. Tuberous sclerosis imayambitsa mitundu itatu ya zotupa mu ubongo: (1) cortical tubers , yomwe imachitika pamwamba pa ubongo koma ikhoza kukula mu ubongo; (2) mitsempha yapamtunda , yomwe imachitika m'matumbo; ndi (3) supependymal giant-cell astroytomas , yomwe imachokera ku mitsempha yotchedwa supependymal ndipo imayambitsa kutuluka kwa madzi m'bongo, motero kumayambitsa kukakamizidwa mu ubongo kumayambitsa mitu ndi masomphenya osowa.
Matenda a ubongo wachiwiri kwa tuberous sclerosis ndizo zotsatira zovulaza kwambiri za matendawa. Kugonjetsa ndi kuchedwa kwachitukuko ndizofala pakati pa omwe ali ndi matendawa.
Kukhudza kwa impso. Kawirikawiri matenda a tuberous sclerosis amachititsa matenda aakulu a impso komanso kusalimba kwa impso ; pa urinalysis, mitsempha ya mkodzo nthawi zambiri imakhala yosagwira ntchito komanso proteinuria (magulu a mapuloteni mu mkodzo) ndi ofatsa mpaka pang'ono. (Anthu omwe ali ndi matenda ambiri a impso akhoza "kuthira" kapena kutaya mapuloteni mu mkodzo.)
Mmalo mwake, impso zizindikiro ndi zotheka zizindikiro kwa iwo omwe ali ndi tuberous sclerosis zimakhudza kukula kwa zotupa zotchedwa angiomyolipomas .
Ziphuphuzi zimachitika mu impso zonse (zogwirizanitsa) ndipo nthawi zambiri zimakhala zonyozeka, ngakhale zitakhala zazikulu zokwanira masentimita 4 m'mimba mwake, zimatha kuuluka ndipo ziyenera kuchotsedwa opaleshoni.
Mosiyana ndi matenda a impso a polycystic, tuberous sclerosis ingapangitse chiopsezo cha renal cell carcinoma (kansa ya impso ya AKA). Anthu omwe ali ndi tuberous sclerosis ayenera kufufuzidwa kawirikawiri pogwiritsa ntchito chithunzi choyesa kuti apeze chitukuko cha khansa ya impso.
Kugwira khungu. Pafupifupi anthu onse omwe ali ndi tuberous sclerosis amakhala ndi khungu la matenda. Zilonda izi zikuphatikizapo zotsatirazi:
- hypomelanotic macules ("masamba a phulusa" omwe ali ndi zikopa pa khungu lomwe silingakhale ndi pigment ndipo motero limawala kuposa khungu lozungulira)
- Chigamba cha shagreen (focal leathery thickening khungu)
- "Confetti" zilonda
- chipika cha nkhope ya fibrous
- maso a nkhope
- ungual fibromas
- adenoma sebaceum
Ngakhale kuti zilonda za khunguzi ndizosaononga, zimakhala zosawonongeka, ndiye chifukwa chake amatha kuchotsedwa opaleshoni.
Kugwira mtima kwa mtima. Makanda obadwa ndi matenda a tuberous nthawi zambiri amakhala ndi ziphuphu zamtima zotchedwa rhabdomyomas . Pa makanda ambiri, zotupazi sizimayambitsa mavuto ndipo zimakhala ndi zaka. Komabe, ngati zotupazo zimakula mokwanira, zimatha kuletsa kufalikira.
Chithandizo
Palibe mankhwala enieni a tuberous sclerosis. Mmalo mwake, zovuta izi zimachiritsidwa mwachizindikiro. Mwachitsanzo, mankhwala a antiepileptic angaperekedwe pofuna kuthana ndi vuto. Kuchitanso opaleshoni kungathenso kuchotsa zotupa ku khungu, ubongo, ndi zina zotero.
Ofufuza akufufuza njira zatsopano zothandizira tuberous sclerosis. Malingana ndi National Institute of Neurological Disorders ndi Stroke:
"Kafufuzidwe kafukufuku amachititsa masewerawa kuchokera kufukufuku wapatali kwambiri wa sayansi ku kafukufuku wamaphunziro ovomerezeka. Mwachitsanzo, ena ofufuza akuyesera kuzindikira mapuloteni onse omwe ali ndi "njira yowonetsera" momwe TSC1 ndi TSC2 amapangira mapuloteni komanso mapuloteni a mTOR. Maphunziro ena akugwiritsidwa ntchito kumvetsetsa bwino momwe matendawa amakhalira, potsata zinyama ndi odwala, kuti athe kufotokoza bwino njira zatsopano zothandizira kapena kuteteza chitukuko cha matendawa. Potsirizira pake, mayesero a rapamycin akuyendetsedwa (ndi thandizo la NINDS ndi NCI) kuti ayese mwakhama phindu lomwe lingapindule nawo pamagulu ena omwe ali ovuta kwa odwala TSC. "
Mawu Ochokera
Ngati inu kapena wokondedwa wanu mumapezeka kuti muli ndi tuberous sclerosis, chonde dziwani kuti malingaliro kapena malingaliro a nthawi yaitali a chikhalidwe ichi ndi osiyana kwambiri. Ngakhale ana ena omwe ali ndi vutoli amakumana ndi mavuto aakulu komanso amakhala ndi vuto la maganizo, ena amakhala ndi moyo wathanzi. Matendawa amatengera kukula kwa chotupa kapena kufalikira. Komabe, anthu omwe ali ndi vutoli ayenera kuyang'anitsitsa chifukwa cha vutoli chifukwa nthawi zonse amatha kukhala ndi vuto lalikulu la ubongo kapena impso.
> Zotsatira:
> Darling TN. Chaputala 140. Complex Tuberous Sclerosis. Mu: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, DJ Leffell, Wolff K. eds. Dermatology ya Fitzpatrick mu General Medicine, 8e . New York, NY: Hill ya McGraw; 2012.
> Kemp WL, Burns DK, Brown TG. Mutu 6. Matenda Achibadwa. Mu: Kemp WL, Burns DK, Brown TG. eds. Mafupa: Chithunzi chachikulu . New York, NY.
> Chipepala Chotsimikizika cha Tuberous Sclerosis. National Institute of Neurological Disorders ndi Stroke. http://www.ninds.nih.gov
> Zhou J, Pollak MR. Matenda a Polycystic Impso ndi Zovuta Zina Zopanda Kukula kwa Tubule ndi Kukula. Mu: Kasper D, Fauci A, Hauser S, Longo D, Jameson J, Loscalzo J. eds. Mfundo za Harrison za Internal Medicine, 19e . New York, NY: Hill ya McGraw; 2015.