I-Bourneville tuberous sclerosis yisifo sofuzo esiyinkimbinkimbi esibonakala ngokukhula kwesimila esiyingozi (okungewona umdlavuza) ezingxenyeni ezahlukene zomzimba. Lezi zimila zingabe sezitholakala esikhunjeni, ebuchosheni, ezinso, nakwezinye izitho nezicubu. Le pathology ingabangela nezinkinga ezinkulu ekuthuthukiseni komuntu ngamunye. Kodwa-ke, ukubonakaliswa komtholampilo kanye nobunzima besifo kuyahlukahluka kuye ngesiguli.

Ukungajwayelekile kwesikhumba okuhambisana nakho ngokuvamile kufana namachashaza esikhumbeni noma ezindaweni lapho isikhumba sikhanya khona kunawo wonke umzimba. Ukuthuthukiswa kwezimila ebusweni kubizwa ngokuthi i-angiofibroma.

Emongweni wokulimala kobuchopho, izimpawu zomtholampilo ukuquleka, izinkinga zokuziphatha (ukungasebenzi kahle, ulaka, ukukhubazeka kwengqondo, izinkinga zokufunda, njll.). Ezinye izingane ezinalesi sifo zize zibe nohlobo oluthile lwe-autism, ukuphazamiseka kokukhula, okuthinta ukuxhumana nomphakathi kanye nokuxhumana. Izimila zobuchopho ezingezinhle nazo zingadala izinkinga ezingaba yingozi esihlokweni.

Ukuthuthukiswa kwezimila ezinsweni kuvamile kubantu abane-tuberous sclerosis. Lokhu kungabangela izinkinga ezinzima ekusebenzeni kwezinso. Ngaphezu kwalokho, izimila zingakhula enhliziyweni, emaphashini nase-retina. (2)

Kuyisifo esiyivelakancane, ukusabalala kwaso (inani lamacala kubantu abathile ngesikhathi esinikeziwe) sifinyelela ku-1/8 kuya ku-000/1 abantu. (15)

Ukubonakaliswa komtholampilo okuhlotshaniswa ne-tuberous sclerosis yaseBourneville kuyahlukahluka kuye ngezitho ezithintekile. Ngaphezu kwalokho, izimpawu ezihambisana nalesi sifo ziyahlukahluka kuye ngokuthi umuntu nomuntu. Ngezimpawu ezisuka kokuncane kuye kwezinzima.

Izimpawu zalesi sifo ezihlonzwe kakhulu zihlanganisa isithuthwane, ukuphazamiseka kwengqondo nokuziphatha, ukungahambi kahle kwesikhumba, njll. Izitho ezithinteka kakhulu yilezi: ubuchopho, inhliziyo, izinso, amaphaphu nesikhumba.

Ukukhula kwezimila eziyingozi (umdlavuza) kungenzeka kulesi sifo kodwa azivamile futhi zithinta kakhulu izinso.

Izimpawu zomtholampilo zalesi sifo ebuchosheni zivela ekuhlaselweni emazingeni ahlukene:

- ukulimala kwe-cortical tubercles;

- ama-nodule ependymal (SEN);

- i-astrocytomas enkulu ye-ependymal.

Ziphumela kulokhu: ukuthuthukiswa kokukhubazeka kwengqondo, ubunzima bokufunda, ukuphazamiseka kokuziphatha, ulaka, ukuphazamiseka kokunaka, ukuxakeka ngokweqile, ukuphazamiseka kokuphoqeleka kokuphoqeleka, njll.

Ukulimala kwezinso kubonakala ngokuthuthukiswa kwama-cysts noma i-angiomyolipomas. Lokhu kungabangela ubuhlungu bezinso ngisho nokwehluleka kwezinso. Uma ukopha okukhulu kubonakala, kungase kube yi-anemia enzima noma umfutho wegazi ophezulu. Eminye imiphumela emibi kakhulu kodwa engavamile ingase ibonakale, ikakhulukazi ukuthuthukiswa kwe-carcinomas (isimila samaseli ayingxenye ye-epithelium).

Ukulimala kwamehlo kungase kufane namachashaza abonakalayo ku-retina, kubangele ukuphazamiseka kokubona noma ngisho nokungaboni.

Ukungajwayelekile kwesikhumba kuningi:

- i-hypomelanic macules: okuholela ekubonakaleni kwamabala akhanyayo esikhumbeni, noma kuphi emzimbeni, ngenxa yokuntuleka kwe-melanin, iphrotheni enikeza umbala esikhumbeni;

- ukuvela kwamabala abomvu ebusweni;

– amabala agugekile ebunzini;

- okunye ukungahambi kahle kwesikhumba, kuncike komunye nomunye.

Izilonda zamaphaphu zikhona ku-1/3 yeziguli ezinobukhulu obuncane besifazane. Izimpawu ezihambisana nazo ziba nobunzima bokuphefumula obucishe bube bukhulu kakhulu.

Imvelaphi yalesi sifo iwufuzo kanye nefa.

Ukudluliselwa kuhilela ukuguqulwa kofuzo lwe-TSC1 kanye ne-TSC2. Lezi zakhi zofuzo ezithakazelisayo zidlala indima ekwakhekeni kwamaprotheni: i-hamartin ne-tuberin. Lawa maprotheni amabili enza kube nokwenzeka, ngomdlalo osebenzisanayo, ukulawula ukwanda kwamaseli.

Iziguli ezinalesi sifo zizalwa nekhophi okungenani eyodwa eguquliwe yalezi zakhi zofuzo kuseli ngalinye lazo. Lezi zinguquko zibe zikhawulela ukwakheka kwe-hamartine noma i-tubertine.

Esimweni lapho amakhophi amabili esakhi sofuzo eguqulwa khona, avimbela ngokuphelele ukukhiqizwa kwalawa maprotheni amabili. Ngakho-ke lokhu kushoda kwamaprotheni akusawuvumeli umzimba ukuthi ulawule ukukhula kwamangqamuzana athile futhi, ngalo mqondo, kuholela ekwakhiweni kwamaseli wesimila kumathishu ahlukene kanye / noma izitho.

Izici eziyingozi zokuthuthukisa i-pathology enjalo ziwufuzo.

Ngempela, ukudluliselwa kwalesi sifo kuphumelela ngemodi evelele ye-autosomal. Kuphakathi kokuthi, ufuzo olushintshile lwentshisekelo lutholakala ku-chromosome engeyona ezocansi. Ngaphezu kwalokho, ukuba khona kwekhophi eyodwa kuphela yamakhophi amabili ofuzo oluguquliwe kwanele ukuthi lesi sifo sithuthuke.

Ngalo mqondo, umuntu onoyedwa walaba bazali ababili abanalesi sifo unengozi engu-50% yokuba ne-phenotype egulayo ngokwakhe.

Ukuxilongwa kwesifo kuqala kukho konke okuhlukile. Isekelwe kumbandela womzimba we-atypical. Ezimweni eziningi, izimpawu zokuqala zesici zesifo yilezi: ukutholakala kwesifo sokuwa okuphindaphindiwe nokubambezeleka ekuthuthukisweni kwesihloko. Kwezinye izimo, lezi zimpawu zokuqala ziphumela esikhunjeni noma ukuhlonza isimila senhliziyo.

Ngemva kwalokhu kuxilongwa kokuqala, ukuhlolwa okwengeziwe kubalulekile ukuze kuqinisekiswe ukuxilongwa noma cha. Lokhu kubandakanya:

- ukuhlolwa kwengqondo;

- i-MRI (i-Magnetic Resonance Imaging) yobuchopho;

- i-ultrasound yenhliziyo, isibindi nezinso.

Ukuxilongwa kungasebenza ngempumelelo ekuzalweni kwengane. Uma kungenjalo, kubalulekile ukuthi yenziwe ngokushesha ngangokunokwenzeka ukuze kuthathwe umthwalo wesiguli ngokushesha ngangokunokwenzeka.

Njengamanje alikho ikhambi lalesi sifo. Ngakho-ke ukwelapha okuhambisana nakho kuzimele ezimpawini ezivezwa umuntu ngamunye.

Ngokuvamile, izidakamizwa ezilwa nesithuthwane zinikezwa ukunciphisa ukuquleka. Ngaphezu kwalokho, izidakamizwa zokwelapha amangqamuzana e-tumor obuchopho nezinso nazo zibekiwe. Esimweni sezinkinga zokuziphatha, ukwelashwa okuqondile kwengane kuyadingeka.

Ukwelashwa kwalesi sifo kuvame ukuthatha isikhathi eside. (1)