Bourneville tuberous sclerosis cuta ce mai rikitarwa ta hanyar haɓakar ƙwayar cuta (wanda ba ta da kansa) a sassa daban-daban na jiki. Wadannan ciwace-ciwacen suna iya kasancewa a cikin fata, kwakwalwa, koda, da sauran gabobin jiki da kyallen takarda. Wannan Pathology kuma na iya haifar da matsaloli masu tsanani a cikin ci gaban mutum. Koyaya, bayyanar asibiti da tsananin cutar sun bambanta daga haƙuri zuwa majiyyaci.

Matsalolin fata masu alaƙa gabaɗaya suna kama da tabo akan fata ko wuraren da fatar ta yi sauƙi fiye da na sauran jiki. Ci gaban ciwace-ciwace a cikin fuska ana kiransa angiofibroma.

A cikin mahallin lalacewar kwakwalwa, alamun asibiti sune ciwon farfaɗo, matsalolin halayya (hawan jini, tashin hankali, rashin hankali, matsalolin ilmantarwa, da dai sauransu). Wasu yara masu cutar ma suna da wani nau'i na Autism, cututtuka na ci gaba, da ke shafar hulɗar zamantakewa da sadarwa. Ciwon daji mara kyau na kwakwalwa kuma na iya haifar da rikice-rikicen da ka iya zama kisa ga batun.

Ci gaban ciwace-ciwacen ciwace-ciwace a cikin kodan ya zama ruwan dare a cikin mutanen da ke fama da cutar sclerosis. Wannan na iya haifar da rikitarwa mai tsanani a cikin aikin koda. Bugu da ƙari, ciwace-ciwacen daji na iya tasowa a cikin zuciya, huhu da retina. (2)

Wata cuta ce da ba kasafai ba, wanda yawansu (yawan lokuta a cikin adadin da aka bayar a wani lokaci) ya kai 1/8 zuwa 000/1 mutane. (15)

Bayyanar cututtuka da ke hade da tuberous sclerosis na Bourneville sun bambanta bisa ga gabobin da abin ya shafa. Bugu da ƙari, alamun da ke tattare da cutar sun bambanta sosai daga mutum ɗaya zuwa wani. Tare da alamun da ke kama daga m zuwa mai tsanani.

Alamomin da aka fi sani da wannan cuta sun hada da ciwon farfadiya, rashin fahimtar juna da halayya, rashin daidaituwar fata, da dai sauransu. Gabobin da suka fi shafa su ne: kwakwalwa, zuciya, koda, huhu da fata.

Ci gaban ciwace-ciwacen daji (cancer) yana yiwuwa a cikin wannan cutar amma ba kasafai ba ne kuma galibi yana shafar kodan.

Alamomin asibiti na cutar a cikin kwakwalwa sun samo asali ne daga hare-hare a matakai daban-daban:

- lalacewa ga tubercles na cortical;

Ependymal nodules (SEN);

- giant ependymal astrocytomas.

Suna haifar da: haɓakar haɓakar tunani, matsalolin ilmantarwa, rikice-rikice na ɗabi'a, tashin hankali, rashin kulawa, haɓakawa, rikice-rikice masu rikitarwa, da sauransu.

Lalacewar koda yana halin haɓakar cysts ko angiomyolipomas. Wadannan na iya haifar da ciwon koda har ma da gazawar koda. Idan an ga zubar jini mai yawa, yana iya kasancewa daga anemia mai tsanani ko hawan jini. Sauran sakamako masu tsanani amma da ba kasafai ake iya gani ba, musamman ci gaban carcinomas (tumor na kwayoyin halitta na epithelium).

Lalacewar ido na iya zama kamance da tabo da ake iya gani akan idon ido, yana haifar da damuwa na gani ko ma makanta.

Nakasassun fata suna da yawa:

- hypomelanic macules: wanda ke haifar da bayyanar haske a kan fata, a ko'ina cikin jiki, sakamakon rashi a cikin melanin, sunadaran da ke ba da launi ga fata;

- bayyanar jajayen aibobi a fuska;

- launuka masu launi a goshi;

- sauran rashin daidaituwa na fata, dogara daga mutum ɗaya zuwa wani.

Raunin huhu yana samuwa a cikin 1/3 na marasa lafiya tare da ƙananan rinjaye na mace. Alamomin da ke da alaƙa sannan sun fi ko žasa wahalar numfashi.

Asalin cutar ta gado ce kuma ta gado.

Watsawa ya ƙunshi maye gurbi a cikin kwayoyin halittar TSC1 da TSC2. Wadannan kwayoyin halittar sha'awa suna shiga cikin samuwar sunadaran: hamartin da tuberin. Wadannan sunadaran guda biyu suna ba da damar, ta hanyar wasan kwaikwayo, don daidaita yaduwar kwayar halitta.

Ana haifan majinyatan da ke da cutar da aƙalla kwafi guda ɗaya na waɗannan kwayoyin halitta a cikin kowane ɗayansu. Wadannan maye gurbi suna iyakance samuwar hamartine ko tubertine.

A cikin mahallin da aka canza kwafin kwayoyin halitta guda biyu, sun hana samar da wadannan sunadaran guda biyu gaba daya. Wannan rashi sunadaran don haka baya barin jiki ya daidaita haɓakar wasu ƙwayoyin cuta kuma, ta wannan ma'ana, yana haifar da haɓaka ƙwayoyin ƙari a cikin kyallen takarda da / ko gabobin daban-daban.

Abubuwan haɗari don haɓaka irin wannan ilimin cututtuka sune kwayoyin halitta.

Lalle ne, watsa cutar yana da tasiri ta hanyar yanayin da ke da rinjaye na autosomal. Ko dai, maye gurbi na sha'awa yana samuwa a wani chromosome wanda ba na jima'i ba. Bugu da kari, kasancewar daya kawai daga cikin kwafi biyu na kwayoyin halittar da aka canza ya wadatar da cutar.

A wannan ma'ana, mutumin da ke da ɗayan waɗannan iyaye biyu masu fama da cutar yana da haɗarin 50% na haɓaka yanayin rashin lafiya da kansa.

Binciken cutar da farko shine bambanci. Ya dogara ne akan ma'auni na zahiri. A mafi yawan lokuta, alamun farko na alamun cutar sune: kasancewar kamuwa da cututtuka na yau da kullun da kuma jinkiri a cikin ci gaban batun. A wasu lokuta, waɗannan alamun farko suna haifar da tabo fata ko gano ciwon zuciya.

Bayan wannan ganewar asali na farko, ƙarin gwaje-gwaje suna da mahimmanci don tabbatar da ganewar asali ko a'a. Waɗannan sun haɗa da:

– duban kwakwalwa;

- wani MRI (Hoton Resonance na Magnetic) na kwakwalwa;

– duban dan tayi na zuciya, hanta da koda.

Sakamakon ganewar asali na iya zama tasiri a lokacin haihuwar yaro. In ba haka ba, yana da mahimmanci a aiwatar da shi da sauri don ɗaukar nauyin majiyyaci da wuri-wuri.

A halin yanzu, babu maganin cutar. Don haka magungunan da ke da alaƙa sun kasance masu zaman kansu daga alamun da kowane mutum ya gabatar.

Yawancin lokaci, ana ba da magungunan anti-epileptik don iyakance kamewa. Bugu da kari, ana kuma ba da magunguna don maganin ƙwayoyin tumor na kwakwalwa da koda. A cikin yanayin matsalolin hali, takamaiman magani na yaron ya zama dole.

Maganin cutar yawanci dogon lokaci ne. (1)