Overview
Tuberous sclerosis (aka tuberous sclerosis complex) isati isingazivikanwi nehutachiona hunokonzera bonde rinokuvadza kuti rikure mune zvakasiyana-siyana masangano, kusanganisira uropi, mafungiro, mwoyo, mapapu, maziso, chiropa, pancreas, uye ganda. Izvi zvinogona kukonzera kukurumidza kukura, kukanganisa, zvirwere zvepfungwa nezvimwe; zvisinei, kufungidzira kunowanzoenderana nehuwandu hwechirwere kuparadzira kana kupararira.
Pakupedzisira, vazhinji vane chirwere vanoramba vachirarama hupenyu hwakanaka.
Icho 'Tuberous Sclerosis' Zvinoreva
Ne tuberous sclerosis, tubers kana mbatata-sezviremara zvinokura muuropi. Iko kukura kunopedzisira kuverengwa, kuomeswa, uye kuputika . Tuberous sclerosis yakawanikwa makore anopfuura 100 akapfuura nechiremba wechiFrance uye yaimbozivikanwa nemamwe mazita maviri: epiloia kana Bourneville 's disease .
Kuwanda
Nemhaka yokuti tuberous sclerosis haina kunaka, zvakaoma kuputsa pasi zvaro zvechokwadi. Zvinofungidzirwa kuti chirwere ichi chinokanganisa pakati pe 25 000 ne40,000 veAmerica uye pakati pevanhu vane mamiriyoni maviri neviri munyika yose.
Cause
Tuberous sclerosis inogona kupiwa nhaka mumutambo unofambisa . Nezvirwere zvinotyisa zvinotyisa, mubereki mumwechete ndiye anofanira kuva nekopi ye mutered gene kuti apfuure chirwere ichi kumwanakomana kana mwanasikana. Zvichida-uye zvinowanzowanzo-tuberous sclerosis inogona kubva pane kuchinja kwemavara kana kushandiswa kwepakati kune mumwe munhu akabatwa, pasina mubereki anotakura gene mutation inokonzera kukonzera tuberous sclerosis.
Tuberous sclerosis inokonzerwa neine gene gene mutation mune TSC1 kana TSC2 , inosungira hamartin kana tuberin , maererano. ( TSC1 iri pane chromosome 9, uye TSC2 iri pa chromosome 16.) Uyezve, nokuti TSC1 geni iri pedo nePKD1 geni-zvichiita kuti kuwedzerwa kwemajini ose kuve kwakagadzikana-vanhu vazhinji vanogara nhaka yehutereous sclerosis vanogara nhaka yevotosomal polycystic kidyo chirwere (ADPKD).
Kungofanana ne tuberous sclerosis, autosomal inowanzobatanidza polycystic yechirwere chepfungwa inokonzera matumire kukura muitsvo.
Maererano nemagetsi, TSC1 uye TSC2 vanoita kukanganisa kwavo nekodhi ye hamartin kana tuberin iyo inopedzisira ichingopinda muprotini yakaoma. Iyi proteine yakaoma inoshandiswa panheyo ye cilia uye inovhiringidza intracellular kuisa chiratidzo, iyo inopindirana ne enzyme (protein kinase) mTOR. Nokupindira neTTOR, kupatsana kwemasero, kudzokorora uye kukura kunoshungurudzwa, uye kukura kusina kukwana kwemakumbo kunoguma. Zvinofadza kuti masayendisiti ari kuedza kukura mTOR inhibitor inogona kushandiswa seyrapi ye tuberous sclerosis.
Zviratidzo
Tuberous sclerosis yakaoma uye zvino inoratidza sezviratidzo zvinosanganisira zvirongwa zvakasiyana-siyana zvenhengo. Ngatitarisei mhinduro pamagadziro mana ehutano: uropi, itsvo, ganda uye moyo.
Kubatana kwebongo. Tuberous sclerosis inokonzera mhando mitatu yemakumbo muuropi: (1) cortical tubers , iyo inowanzoitika pahupamhi hweuropi asi inogona kuwedzera mukati muuropi; (2) mazuru emuviri , anowanikwa mumhepo. uye (3) supependymal giant-cell astroytomas , iyo inobva mumasukirwe e-supependymal uye inovhara kubuda kwemvura mukati meuropi, zvichiita kuti pave nekuvaka-muhutano hwehuropi hunoita kuti musoro uye zvisizvo zvionekwe.
Ubongo hutachiona hwechipiri kune tuberous sclerosis ndiyo inonyanya kukanganisa chirwere ichi. Kukanganisa nekukurumidza kunonoka kunonoka kune avo vane chirwere ichi.
Iropi kubatanidzwa. Kazhinji kazhinji tuberous sclerosis inoguma nehutachiona hwepfungwa uye kusagadzikana kwepso ; painonoka, urin sediment inowanzosakatika uye proteinuria (mazinga eprotini mumuguta) inononoka kusvika kuduku. (Vanhu vane zvirwere zvakanyanya zvepfungwa vanogona "kupera" kana kurasika mapuroteni mumuguta.)
Pane kudaro, itsvo zviratidzo uye zvinogoneka zviratidzo kune avo vane tuberous sclerosis zvinosanganisira kukura kwemakumbo anonzi angiomyolipomas .
Izvi zvinowanzoitika muzvipi zviviri (pamwe chete) uye zvinowanzotadza, kunyange kana zvikawanda zvakakwana (zvakakura kupfuura masentimita mana muhupamhi), dzinogona kubuda uye dzinoda kubviswa chirwere.
Nyaya isina kufanana nechirwere chinonzi polycystic inorwara, tuberous sclerosis inogona kuwedzera njodzi yekukudziridza renal cell carcinoma (kenza yeAAA yepfungwa). Vanhu vane tuberous sclerosis vanofanira kugara vachiongororwa vachishandura mafungiro ekufungidzira kuti vaongorore kukura kwekenza yempfungwa.
Kubatana kweganda. Inenge vanhu vose vane tuberous sclerosis iripo neganda zviratidzo zvechirwere chacho. Izvi zvinosanganisa zvinotevera:
- hypomelanotic macules ("ash leaf spots" iyo yakasvibirira paganda risina pigment uye saka rinopenya kupfuura ganda rakapoteredza)
- shagreen patch (focal leathery thickening yeganda)
- "Confetti" maronda
- bhata rakakomberedzwa
- facial angiofibromas
- ungual fibromas
- adenoma sebaceum
Kunyange zvazvo izvi zvipembenene zveganda zvakashata, kana zvisingaenzaniswi, zvinogona kukonzera kusagadziriswa, ndicho chikonzero vanogona kuvhiyiwa chirwere.
Kubatanidzwa kwemwoyo. Vana vacheche vakaberekwa ne tuberous sclerosis vanowanzouya nemavhutu emwoyo anonzi rhabdomyomas . Muvana vakawanda, matamu aya haabvumiri matambudziko uye anopera nezera. Kunyange zvakadaro, kana mamota acho achikura zvakakwana, anogona kudzivisa kuparadzirwa.
Kurapa
Hakuchina mushonga chaiwo we tuberous sclerosis. Pane kudaro, izvi zvakaoma zvinotarisirwa zviratidzo. Somuenzaniso, antiepileptic mishonga inogona kupiwa kuporesa matambudziko. Kuvhiya kunogona kuitwawo kubvisa maturu kubva paganda, uropi, nezvakadaro.
Vatsvakurudzi vari kutsvaga nzira dzinoverengeka dzokurapa tuberous sclerosis. Maererano neNational Institute of Neurological Disorders uye Stroke:
"Ongororo dzekutsvakurudza dzinotungamirira gamut kubva pane zvakanyanya svesayenzi kuongororwa kuchirongwa chekushandura kwekuchirapa. Semuenzaniso, vamwe vatsva vari kuedza kuzivisa mapuroteni ose ari mu "imwe nzira yekuisa" iyo iyo TSC1 uye TSC2 mapuroteni emiti uye protine mTOR inobatanidzwa. Zvimwe zvidzidzo zvakanyanyisa pakunzwisisa zvakadzama kuti chirwere chacho chinokura sei, zvose mumhuka yezvipfuwo uye kune varwere, kuti zviri nani kutsanangura nzira itsva dzekutonga kana kudzivirira kukura kwechirwere. Pakupedzisira, zviyero zvekurapa zve rapamycin zviri kuenderera mberi (pamwe neNINDS neCNI kutsigirwa) kurongedza zvakanakira kubatsirwa kwechikamu ichi kune zvimwe zviremara izvo zvinonetsa muvatachiona veTTsC. "
Shoko Rinobva
Kana iwe kana munhu waunoda akaonekwa kuti ane tuberous sclerosis, tapota ziva kuti kutaura kana kuti maonero emakore kwenguva yakareba nezvechiitiko ichi zvakasiyana zvikuru. Kunyange zvazvo vamwe vacheche vane chirwere ichi vanotarisana nekusingaperi kwehupenyu uye kukanganisika kwepfungwa, vamwe vanoramba vachirarama upenyu hwakasiyana. Zvirwere zvinopedzisira zvichienderana nehuwandu hwehutu hwekuparadzira kana kupararira. Kunyange zvakadaro, vanhu vane chirwere ichi vanofanira kunyatsoongororwa nekuda kwezvinetso nokuti pane nguva dzose kutyisidzirwa kwehupfungwa kana uropi hwepimpumu inogona kuva yakakomba uye kutyisidzira upenyu.
> Sources:
> Darling TN. Chitsauko 140. Tuberous Sclerosis Complex. Mu: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Fermpatrick's Dermatology in General Medicine, 8e . New York, NY: McGraw-Hill; 2012.
> Kemp WL, Burns DK, Brown TG. Chitsauko 6. Matambudziko ehutano. Mu: Kemp WL, Burns DK, Brown TG. eds. Pathology: The Big Picture . New York, NY.
> Tuberous Sclerosis Fact Sheet. National Institute of Neurological Disorders uye Stroke. http://www.ninds.nih.gov
> Zhou J, Pollak MR. Polycystic Kidney Disease nedzimwe Matambudziko Akakonzerwa neTubule Kukura uye Kubudirira. Muna: Kasper D, Fauci A, Hauser S, Longo D, Jameson J, Loscalzo J. eds. Harrison's Principles of Internal Medicine, 19e . New York, NY: McGraw-Hill; 2015.