Sibanzi
I-Tuberous sclerosis (i-aka tuberous sclerosis complex) isifo esingaqhelekanga sesifo sofuzo esibangela izilonda ezinobunzima ukuba zikhule kwiinkqubo ezahlukeneyo zesebe, kubandakanya ubuchopho, izintso, intliziyo, imiphunga, amehlo, isibindi, i-pancreas kunye nesikhumba. Ezi zicubu zinokubangela ukulibaziseka kokuphuhliswa, ukuxhatshazwa, izifo zesifo kunye nokunye; nangona kunjalo, ukugqalwa kwesigxina kukuxhomekeke kumlinganiselo we-tumor ukusasazwa okanye ukusasazeka.
Ekugqibeleni, abaninzi abaneemeko baya kuphila ubomi obuphilileyo.
Yiyiphi i-Tuberous Sclerosis
Ngesifo se-tuberous sclerosis, izilimo eziyizigaxa okanye amazambane-njengama-tumors zikhula kwingqondo. Ezi zikhula ekugqibeleni ziba zibalwa, zikhuni, kwaye zihlaziye . I-Tuberous sclerosis yafunyanwa ngaphezu kweminyaka eyi-100 edlulileyo ngumgqirha waseFransi kwaye wayezaziwa ngamanye amagama: i- epiloia okanye isifo sikaBourneville .
Ukukhula
Ngenxa yokuba i-tuberous sclerosis inqabile kakhulu, kunzima ukuphosa i-frequency yayo yangempela. Kuqikelelwa ukuba esi sifo sichaphazela phakathi kwama-25,000 kunye nama-40,000 aseMerika kunye naphakathi kwabantu abayizigidi nezigidi emhlabeni jikelele.
Isizathu
I-tuberous sclerosis inokufumana ilifa kwi- autosomal fashion. Ngezifo eziphambili ze-autosomal, umzali omnye kufuneka abe nekopi yomgubo oguqulwayo ukudlulisa ukugula phantsi kwonyana okanye intombi. Ngenye indlela-kwaye ngokuqhelekileyo-isifo se-tuberous sclerosis sinokuphuma ngokutshintshana ngokukhawuleza okanye okutshintshileyo kumntu ochaphazelekayo, kungekho nomzali obethwala ukuguquka komzimba obangela ukubola kwesifo.
I-Tuberous sclerosis ibangelwa ukuguquka kwemfuza kwi- TSC1 okanye i- TSC2 , ebeka i- hamartin okanye i- tuberin ngokulandelanayo. ( TSC1 ikhona kwi-chromosome 9, kunye ne- TSC2 ikhona kwi-chromosome 16.) Ngaphezu koko, ngokuba i-gene ye- TSC1 isondele kwimizi ye- PKD1 -okwandisa amathuba okuba iigesi zombini zichaphazeleka-abantu abaninzi abadla i-scerosis ye-tuberous bazuze i-autosomal ephezulu isifo sezintso ze-polycystic (ADPKD).
Njengesifo se-tuberous sclerosis, i-autosomal isifo sobomi se-polycystic isenza ukuba izikhumba zikhule ezintsheni.
Ngokomatshini, i- TSC1 kunye ne- TSC2 yenza umonakalo ngokubhala i-hamartin okanye i-tuberin ekugqibeleni iququzela kwiprotheni enzima. Le protoyini eyinkimbinkimbi edibeneyo kwisiseko se-cilia kwaye iphazamise ukubonakaliswa kwe-intracellular, edibaniswa yi-enzyme (protein kinase) mTOR. Ngokuphazamisana ne-MTOR, ukwahlukana kweeseli, ukuphindaphinda kunye nokukhula kuchaphazelekayo, kwaye ukukhula okungavumelekanga kweziphumo zezifo. Okuthakazelisayo, izazinzulu ngoku zizama ukuhlakulela i-MTOR inhibitors ezingasetyenziselwa unyango lwe-tuberous sclerosis.
Iimpawu
I-tuberous sclerosis iyinkimbinkimbi kwaye ibonakalise njengempawu ezibandakanya iinkqubo ezahlukeneyo zesebe. Makhe sijonge iziphumo kwiinkqubo ezine zesigqeba: ingqondo, iintso, ulusu nentliziyo.
Ukubandakanywa koBongo. I-tuberous sclerosis ibangela iintlobo ezintathu zeengxaki ezibuhlungu engqondweni: (1) izilimo eziyizikhuhlane ezinama-cortical , ezenzeka ngokusemgangathweni engqondweni kodwa zingakwazi ukuhlakula ingqondo; (2) ii-nodules ze-supependymal , ezenzeka kuma-ventricles; kunye (3) ne- astroytomas e-supependymal enkulu , ephuma kwiigununu ze-supependymal kwaye ivimba ukuhamba kwe-fluid engqondweni, ngaloo ndlela kubangele ukwakhiwa kwengcinezelo yengqondo eholele entlekweni kunye nombono ongenangqondo.
Ubunzima bokubeletha obunobulwelwazi obusondelene nesifo sobuleba ngokuqhelekileyo sisona siphumo esiyingozi kakhulu kwesi sifo. Ukuxakeka kunye nokulibaziseka kwentuthuko kuqhelekileyo phakathi kwabo banokugula.
Ukubandakanyeka kweengso. Kunqabile kakhulu ukuba i-tuberous sclerosis ibangelwa zizifo zentsholongwane ezingapheliyo kunye nokungaphumeleli kwezintso ; kwi-urinalysis, i-sedine sedine idla ngokungaqinisekiyo kunye neproteinuria (amanqanaba kwiprotheni emcinini) inobunzima. (Abantu abaneentsholongwane ezinzima zesifo "banokuchitha" okanye balahlekelwe amaprotheni kumchamo.)
Esikhundleni saloo, iimpawu zeentso kunye neempawu ezibonakalayo kulabo abane-tuberous sclerosis ziquka ukukhula kwezidumbu ezibizwa ngokuthi i- angiomyolipomas .
Ezi zicubu zenzeke kwiimbini zombini (kwaye zihlala zihlambulukileyo), nangona ziba zikhulu ngokwaneleyo (zikhulu kune-4 cm ububanzi), ziyakwazi ukuphaphaza kwaye ziza kufuneka zicutshwe ngokugqithiseleyo.
Ingqalelo ngokungafani nesifo sesifo se-polycystic, i-tuberous sclerosis inokunyusa umngcipheko wokuphucula i- renal cell carcinoma (umhlaza we-AKA umhlaza). Abantu abane-tuberous sclerosis kufuneka bahlaziywe rhoqo ngokusebenzisa ukucinga ngeso lengqondo ukuhlola ukuphuhliswa komhlaza weengso.
Ukubandakanya isikhumba. Phantse bonke abantu abane-tuberous sclerosis ekhoyo ngokubonakala kwesikhumba sesifo. Ezi zilonda ziquka ezi zilandelayo:
- i-hypomelanotic macules ("amabala amacembe e-ash ash" anamaqabunga elukhumbeni angenayo i-pigment kwaye ke ilula ngaphezu kwesikhumba ejikelezileyo)
- isiqwenga se-shagreen (egxile kwi-leathery thickening yolusu)
- "Confetti" izilonda
- plaque ebusweni
- i-angiofibromas ebusweni
- ii-fibromas
- adenoma sebaceum
Nangona ezi zilonda zesikhumba zinobungozi, okanye zingenanto, zingabangela ukuphazamiseka, kungenxa yoko ziyakususwa.
Ukubandakanywa kwentliziyo. Iintsana ezizalwe ngesifo se-sclerosis zihlala zihamba ngeentliziyo ezivuthayo ezibizwa ngokuba yi- rhabdomyomas . Kwiintsana ezininzi, ezi zihlamba azibangeli naziphi na iingxaki kwaye zinciphisa ngobudala. Nangona kunjalo, ukuba iimvumi ziba zikhulu ngokwaneleyo, zinokuvimba ukujikeleza.
Unyango
Ayikho ikhambi elithile le-tuberous sclerosis. Kunoko, le nkathazo iphathwa ngokuphawulekayo. Ngokomzekelo, amayeza e-antiepileptic anganikwa ukuphazamiseka. Uphando luyakwenziwa kwakhona ukususa izibilini kwesikhumba, ingqondo, njalonjalo.
Abaphandi bahlola iindlela ezintsha zokuphatha isifo se-scerosis. Ngokutsho kweNational Institute of Neurological Disorders and Stroke:
Uphando lwezifundo luqhuba i-gamut ukusuka kuphando olusisiseko lwezenzululwazi kwiphando yophando lweklinikhi. Ngokomzekelo, abanye abaphandi bazama ukuchonga zonke iiprotheni ezakhiweyo 'ngendlela efanayo yokubonisa' apho iimveliso zeprotheyini ze-TSC1 kunye ne-TSC2 kunye neprotheni ye-MTOR zibandakanyeka. Ezinye izifundo zijolise ekuqondeni ngokucacileyo ukuba isifo sifana njani, zombini kwizilwanyana zezilwanyana kunye nezigulane, ukucacisa ngakumbi iindlela ezintsha zokulawula okanye ukuthintela ukuphuhliswa kwesi sifo. Ekugqibeleni, izilingo ze-rapamycin ziyaqhubeka (kunye ne-NINDS kunye ne-NCI inkxaso) ukuvavanya ngokunyanisekileyo inzuzo enokubakho yale ngqungquthela kwezinye iimvumi ezinengxaki kwizigulane ze-TSC. "
ILizwi
Ukuba wena okanye umntu obathandayo ufumanisa ukuba une-tuberous sclerosis, nceda uyazi ukuba ukugxekwa okanye ukujonga ixesha elide le meko kuguquke kakhulu. Nangona ezinye iintsana ezile meko zijamelana nokubanjwa kwexesha elizeleyo kunye nokuphazamiseka kwengqondo, abanye baqhubeka bephila ubomi obunempilo. Ukuqhwabalala ekugqithweni kukuxhomekeke kumlinganiselo we-tumor ukusasazwa okanye ukusasazeka. Nangona kunjalo, abantu abaneli meko kufuneka bahlolisiswe ngokuthe ngqalelo ngenxa yeengxaki kuba kukho kusoloko kusongela ukuba isifo sengqondo okanye isifo seengso singabangela ingozi kwaye isongela ubomi.
> Imithombo:
> Darling TN. Isahluko 140. I-Tuberous Sclerosis Complex. Ku: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. I-Ditzatrick's Dermatology kwi-General Medicine, 8e . New York, NY: McGraw-Hill; 2012.
> Kemp WL, Burns DK, Brown TG. Isahluko 6. Izifo zoMzimba. Ku: Kemp WL, Burns DK, Brown TG. eds. I-Pathology: I-Big Picture . ENew York, NY.
> I-Tuberous Sclerosis Fact Sheet. Isiko seSizwe seNational Psychology and Stroke. http://www.ninds.nih.gov
> Zhou J, Pollak MR. I-Polycystic Iintsholongwane zeeNtliziyo kunye nezinye iingxaki ezizuzelelweyo zeTubule Growth and Development. Ku: Kasper D, Fauci A, Hauser S, uLongo D, Jameson J, Loscalzo J. eds. Iinqununu zeHarrison ze-Internal Medicine, 19e . New York, NY: McGraw-Hill; 2015.