Bourneville tuberous sclerosis chirwere chakaoma chemajini chinoratidzwa nekukudziridzwa kwebundu risina kenza (risina kenza) munzvimbo dzakasiyana dzemuviri. Aya mapundu anogona kuzowanikwa muganda, uropi, itsvo, uye dzimwe nhengo nematishu. Iyi pathology inogonawo kukonzera matambudziko akakomba mukukura kwemunhu. Zvisinei, kuratidzwa kwekliniki uye kuoma kwechirwere kunosiyana kubva kune murwere kusvika kune murwere.

Kukanganiswa kweganda kunowanzofanana nemakwapa paganda kana kunzvimbo dzine ganda rakareruka pane muviri wese. Kukura kwemamota kumeso kunonzi angiofibroma.

Mumamiriro ezvinhu ekukuvara kwehuropi, zviratidzo zvekiriniki ndezvekubatwa nepfari, matambudziko ehunhu (hyperactivity, hutsinye, hurema hwepfungwa, matambudziko ekudzidza, nezvimwewo). Vamwe vana vane chirwere vanotova nemhando ye autism, kusagadzikana kwekukura, kukanganisa kushamwaridzana kwevanhu uye kutaurirana. Benign brain tumors zvakare inogona kukonzera matambudziko anogona kuuraya kune iyo nyaya.

Kukura kwemamota muitsvo kwakajairika kune vanhu vane tuberous sclerosis. Izvi zvinogona kukonzera matambudziko akaomarara mukushanda kweitsvo. Mukuwedzera, mapundu anogona kukura mumoyo, mapapu uye retina. (2)

Icho chirwere chisingawanzoitiki, kuwanda kweiyo (nhamba yezviitiko muhuwandu hwakapihwa panguva yakatarwa) inokwana 1/8 kusvika 000/1 vanhu. (15)

Kuratidzwa kwekiriniki kwakabatana ne tuberous sclerosis yeBourneville kunosiyana zvichienderana nenhengo dzakabatwa. Mukuwedzera, zviratidzo zvine chokuita nechirwere zvinosiyana zvakasiyana kubva kune mumwe munhu kune mumwe. Nezviratidzo zvakapfava kusvika zvakanyanyisa.

Zviratidzo zvinonyanya kuzivikanwa zvechirwere ichi zvinosanganisira pfari, kuvhiringika kwendangariro nemaitiro, kusakwana kweganda, nezvimwewo. Mitezo inowanzobatwa nechirwere ichi ndeiyi: uropi, mwoyo, itsvo, mapapu neganda.

Kukura kwemamota akaipa (cancer) kunokwanisika muchirwere ichi asi haawanzowanikwi uye anonyanya kukanganisa itsvo.

Zviratidzo zvekiriniki zvechirwere muuropi zvinobva mukurwiswa pamatanho akasiyana:

- kukuvadza kune cortical tubercles;

- ependymal nodules (SEN);

- hofori ependymal astrocytomas.

Zvinoguma ne: kukura kwekuremara kwepfungwa, kuomerwa nekudzidza, kusazvibata, hutsinye, kusagadzikana kwekutarisa, hyperactivity, obsessive-compulsive disorders, nezvimwe.

Kukuvadzwa kwetsvo kunoratidzwa nekuvandudzwa kwe cysts kana angiomyolipomas. Izvi zvinogona kukonzera marwadzo eitsvo uye kunyange kusashanda zvakanaka kweitsvo. Kana kubuda ropa kwakanyanya kuchionekwa, kungava kubva kuanemia kwakanyanya kana BP. Zvimwe zvakakomba asi zvisingawanzo mhedzisiro zvinogonawo kuoneka, kunyanya kukura kwecarcinomas (bundu remaseru anoumba epithelium).

Kukuvadzwa kweziso kunogona kufanana nemakwapa anooneka paretina, zvichikonzera kuvhiringika kwekuona kana kutoona.

Skin abnormalities akawanda:

- hypomelanic macules: izvo zvinokonzera kuonekwa kwemavara akajeka paganda, chero kupi zvako pamuviri, semugumisiro wekushayikwa kwe melanin, puroteni inopa ruvara kune ganda;

- kuonekwa kwemavara matsvuku pachiso;

- zvigamba zvakasvibiswa pahuma;

- zvimwe zvisizvo zveganda, zvinoenderana kubva kune mumwe munhu kuenda kune mumwe.

Maronda emumapapu aripo mu1/3 yevarwere vane hukadzi hushoma. Zviratidzo zvakabatana zvinova zvakanyanya kana kushoma zvakanyanya kuoma kwekufema.

Mhedzisiro yechirwere ndeye genetic uye nhaka.

Kutapurirana kunosanganisira shanduko muTSC1 uye TSC2 majini. Aya majini ekufarira anopinda mukuumbwa kwemapuroteni: hamartin uye tuberin. Aya mapuroteni maviri anoita kuti zvikwanisike, kuburikidza nemutambo unopindirana, kugadzirisa kuwedzera kwesero.

Varwere vane chirwere vanozvarwa vaine kopi imwe yakashandurwa yemajini aya mune imwe neimwe yemasero avo. Idzi shanduko dzinobva dzadzikamisa kuumbwa kwe hamartine kana tubertine.

Mumamiriro ezvinhu apo makopi maviri ejini anoshandurwa, anodzivirira zvachose kugadzirwa kwemapuroteni maviri aya. Uku kushomeka kweprotein saka hakuchabvumiri muviri kuti udzore kukura kwemamwe maseru uye, mupfungwa iyi, zvinotungamira mukukudziridzwa kwemaseru bundu mumatishu akasiyana uye / kana nhengo.

Zvikonzero zvinokonzeresa kuti pave nechirwere chakadaro igenetic.

Zvechokwadi, kutapurirana kwechirwere kunoshanda kuburikidza ne autosomal dominant mode. Pamwe, geni rakashandurwa rekufarira rinowanikwa pane isiri yebonde chromosome. Mukuwedzera, kuvapo kweimwe chete yemakopi maviri ejini yakashandurwa yakakwana kuti chirwere chiwedzere.

Nenzira iyi, munhu ane mumwe wevabereki vaviri ava vari kurwara nechirwere ichi ane mukana we50% wekuita chirwere che phenotype pachake.

Kuongororwa kwechirwere ndiko kutanga kwezvose zvakasiyana. Inobva pane atypical physical criteria. Muzviitiko zvakawanda, zviratidzo zvekutanga zvechirwere ndezvi: kuvapo kwekudzokorora kwepfari pfari uye kunonoka mukukura kwechidzidzo. Mune zvimwe zviitiko, zviratidzo zvekutanga izvi zvinoguma nemavara eganda kana kuzivikanwa kwebundu remoyo.

Kutevera kuongororwa kwekutanga uku, kumwe kuongorora kwakakosha kuitira kusimbisa kuongororwa kana kwete. Izvi zvinosanganisira:

- kuongorora uropi;

- MRI (Magnetic Resonance Imaging) yeuropi;

- Ultrasound yemoyo, chiropa uye itsvo.

Kuongororwa kunogona kushanda pakuberekwa kwemwana. Zvikasadaro, zvakakosha kuti iitwe nekukurumidza sezvinobvira kuitira kutora mutoro wemurwere nekukurumidza.

Parizvino, hapana mushonga wechirwere ichi. Mishonga inobatanidzwa naizvozvo yakasununguka pane zviratidzo zvinoratidzwa nemunhu mumwe nomumwe.

Kazhinji, anti-epileptic mishonga inopihwa kuderedza pfari. Mukuwedzera, mishonga yekurapa masero europi uye itsvo inorayirwawo. Mumamiriro ezvinhu ematambudziko ekuzvibata, kurapwa kwakananga kwemwana kunokosha.

Kurapa kwechirwere kunowanzotora nguva refu. (1)