Bourneville tuberous sclerosis ndi matenda ovuta a majini omwe amadziwika ndi kukula kwa chotupa chosaopsa (chopanda khansa) m'madera osiyanasiyana a thupi. Zotupazi zimatha kupezeka pakhungu, ubongo, impso, ndi ziwalo zina ndi minofu. Matendawa amathanso kuyambitsa mavuto akulu pakukula kwa munthu. Komabe, mawonetseredwe azachipatala ndi kuopsa kwa matendawa kumasiyana mosiyana ndi odwala.

Zomwe zimachitika pakhungu nthawi zambiri zimakhala zofanana ndi madontho a pakhungu kapena malo omwe khungu limakhala lopepuka kuposa thupi lonse. Kukula kwa zotupa pa nkhope kumatchedwa angiofibroma.

Pankhani ya kuwonongeka kwa ubongo, zizindikiro zachipatala ndi khunyu, mavuto a khalidwe (kuthamanga kwambiri, kupsa mtima, kulumala, kuphunzira, etc.). Ana ena omwe ali ndi matendawa amakhala ndi mtundu wina wa autism, matenda a chitukuko, omwe amakhudza kuyanjana ndi kulankhulana. Zotupa za muubongo za Benign zitha kuyambitsa zovuta zomwe zimatha kupha mutuwo.

Kukula kwa zotupa mu impso ndizofala kwa anthu omwe ali ndi tuberous sclerosis. Izi zingayambitse mavuto aakulu mu ntchito ya impso. Kuphatikiza apo, zotupa zimatha kukhala mu mtima, mapapo ndi retina. (2)

Ndi matenda osowa, kufalikira kwake (chiwerengero cha milandu mwa anthu opatsidwa nthawi) kumakhala 1/8 mpaka 000/1 anthu. (15)

Mawonetseredwe azachipatala okhudzana ndi tuberous sclerosis ya Bourneville amasiyana malinga ndi ziwalo zomwe zakhudzidwa. Kuonjezera apo, zizindikiro zomwe zimagwirizanitsidwa ndi matendawa zimasiyana kwambiri ndi munthu wina. Ndi zizindikiro kuyambira wofatsa mpaka wovuta.

Zizindikiro zodziwika bwino za matendawa ndi monga khunyu, kusokonezeka kwa chidziwitso ndi khalidwe, kusokonezeka kwa khungu, ndi zina zotero. Ziwalo zomwe zimakhudzidwa kwambiri ndi: ubongo, mtima, impso, mapapo ndi khungu.

Kukula kwa zotupa zowopsa (khansa) ndizotheka mu matendawa koma ndizosowa komanso zimakhudza kwambiri impso.

Zizindikiro za matendawa muubongo zimachokera ku kuukira kosiyanasiyana:

- kuwonongeka kwa ma cortical tubercles;

- ependymal nodules (SEN);

- chachikulu ependymal astrocytomas.

Izi zimabweretsa: kukula kwa kufooka kwamaganizidwe, zovuta kuphunzira, kusokonezeka kwamakhalidwe, nkhanza, kusokonezeka kwa chidwi, kusachita bwino kwambiri, kusokoneza bongo, etc.

Impso kuwonongeka yodziwika ndi chitukuko cha cysts kapena angiomyolipomas. Izi zingayambitse kupweteka kwa impso komanso kulephera kwa impso. Ngati magazi ambiri akuwonekera, mwina chifukwa cha kuchepa kwa magazi m'thupi kapena kuthamanga kwa magazi. Zotsatira zina zowopsa koma zosawerengeka zitha kuwonekanso, makamaka kukula kwa carcinomas (chotupa cha ma cell a epithelium).

Kuwonongeka kwa diso kumatha kukhala kofanana ndi mawanga owoneka pa retina, kumayambitsa kusokonezeka kwamaso kapena khungu.

Zovuta zapakhungu ndi zambiri:

- hypomelanic macules: zomwe zimabweretsa kuoneka kwa mawanga opepuka pakhungu, kulikonse pathupi, chifukwa cha kusowa kwa melanin, mapuloteni omwe amapereka utoto pakhungu;

- maonekedwe a mawanga ofiira pa nkhope;

- zigamba zofiirira pamphumi;

- zofooka zina zapakhungu, zodalira kuchokera kwa munthu kupita kwa wina.

Matenda a m'mapapo amapezeka mwa 1/3 mwa odwala omwe ali ndi vuto lachikazi. Zizindikiro zomwe zimagwirizanitsidwa nazo zimakhala zovuta kwambiri kapena zochepa kupuma.

Chiyambi cha matendawa ndi chibadwa komanso cholowa.

Kupatsirana kumakhudza masinthidwe amtundu wa TSC1 ndi TSC2. Ma jini osangalatsawa amayamba kupanga mapuloteni: hamartin ndi tuberin. Mapuloteni awiriwa amapangitsa kuti, kupyolera mu masewera oyanjana, kuyendetsa kuchuluka kwa maselo.

Odwala matenda amabadwa ndi chimodzi mutated buku la majini aliyense wa maselo awo. Kusintha kumeneku kumalepheretsa mapangidwe a hamartine kapena tubertine.

M'nkhani yomwe makope awiri a jini amasinthidwa, amalepheretsa kupanga mapuloteni awiriwa. Kuperewera kwa mapuloteniwa sikulolanso kuti thupi liziwongolera kukula kwa maselo ena ndipo, mwanjira iyi, kumabweretsa kukula kwa maselo otupa m'magulu osiyanasiyana komanso / kapena ziwalo.

Zomwe zimayambitsa matenda otere ndi majini.

Zowonadi, kufalikira kwa matendawa kumakhala kothandiza kudzera munjira yayikulu ya autosomal. Mwinanso, jini yosinthika yachidwi ili pa chromosome yosagwirizana ndi kugonana. Kuonjezera apo, kukhalapo kwa makope awiri okha a jini yosinthika ndikokwanira kuti matendawa athe.

M'lingaliro limeneli, munthu amene ali ndi mmodzi mwa makolo awiriwa omwe akudwala matendawa ali ndi chiopsezo cha 50% chokhala ndi phenotype wodwala yekha.

The matenda a matenda ndi choyamba kusiyana. Zimatengera mawonekedwe a thupi la atypical. Nthawi zambiri, woyamba khalidwe zizindikiro za matenda ndi: pamaso pa mobwerezabwereza khunyu khunyu ndi kuchedwa pa nkhaniyo chitukuko. Nthawi zina, zizindikiro zoyamba izi zimabweretsa mawanga pakhungu kapena kuzindikira chotupa chapamtima.

Pambuyo pa matenda oyambawa, mayeso owonjezera ndi ofunikira kuti atsimikizire matendawo kapena ayi. Izi zikuphatikizapo:

- kusanthula kwa ubongo;

- MRI (Maginito Resonance Imaging) ya ubongo;

- ultrasound ya mtima, chiwindi ndi impso.

Matendawa amatha kukhala othandiza pa kubadwa kwa mwana. Kupanda kutero, ndikofunikira kuti izi zichitike mwachangu kuti athe kuyang'anira wodwalayo posachedwa.

Panopa palibe mankhwala ochiza matendawa. Chifukwa chake, mankhwala omwe amagwirizana nawo amakhala osadalira zizindikiro zomwe zimaperekedwa ndi munthu aliyense.

Nthawi zambiri, mankhwala oletsa khunyu amaperekedwa kuti achepetse kukomoka. Komanso, mankhwala zochizira chotupa maselo a ubongo ndi impso amatchulidwanso. Pankhani ya zovuta zamakhalidwe, chithandizo chapadera cha mwana ndichofunikira.

Chithandizo cha matenda nthawi yaitali. (1)