Sibutsetelo
I-tuberous sclerosis (i-aka tuberous sclerosis complex) isifo esiyingqayizivele sezakhi zofuzo ezidala izicubu ezinobuthi ukuze zikhule ezinhlotsheni ezihlukahlukene zomzimba, kuhlanganise nobuchopho, izinso, inhliziyo, amaphaphu, amehlo, isibindi, ama-pancreas kanye nesikhumba. Lezi zicubu zingabangela ukubambezeleka kokuthuthukiswa, ukugula, isifo sezinso nokuningi; Kodwa-ke, ukuguqulwa ekugcineni kuncike ekutheni isisakaze sisakaze noma sisakaze kangakanani.
Ekugcineni, abaningi abanesimo baqhubeka bephila impilo enempilo.
Yikuphi 'Tuberous Sclerosis' okushoyo
Nge-tuberous sclerosis, izilimo eziyizigaxa noma izimbungulu ezinjengezambane zikhula ebuchosheni. Lezi zikhula ekugcineni zibalelwa, zizinzile, futhi zihlushwa . I-tuberous sclerosis yatholwa eminyakeni engaphezu kwengu-100 eyedlule udokotela waseFrance futhi wayaziwa ngamanye amagama amabili: i- epiloia noma isifo sikaBourneville .
Ukuvama
Ngenxa yokuthi i-tuberous sclerosis iyinto engavamile, kunzima ukuphoqa imvamisa yayo yangempela. Kulinganiselwa ukuthi lesi sifo sithinta phakathi kuka-25 000 no-40,000 baseMelika kanye naphakathi kwabantu abayizigidi ezimbili nezigidi emhlabeni jikelele.
Isizathu
I-tuberous sclerosis ingazuza njengefa elikude ngendlela ehamba phambili . Ngezifo ezivelele ze-autosomal, umzali oyedwa kuphela okudingeka abe nekhophi yesakhi esithintekile esidlulisela ukugula phansi kwendodana noma indodakazi. Ngenye indlela-futhi ngokujwayelekile-isifo sofuba se-tuberous singabangelwa ukuguquguquka okuzenzekelayo noma okuphambene naso kumuntu othintekile, ngaphandle komzali ophethe izakhi zofuzo obangela ukubola kwesifo sofuba.
I-tuberous sclerosis ibangelwa ukuguquguquka kwezakhi zofuzo ku- TSC1 noma i- TSC2 , ehlanganisa i- hamartin noma i- tuberin , ngokulandelana. ( TSC1 itholakale ku-chromosome 9, futhi i- TSC2 itholakale ku-chromosome 16.) Ngaphezu kwalokho, ngoba isakhi se- TSC1 siseduze nefulethi le- PKD1 -ngaleyo ndlela sandisa amathuba okuba izakhi zombili zofuzo zithinteke-abantu abaningi abazuza i-tuberous sclerosis bazuze i-autosomal ephezulu isifo sezinso ze-polycystic (ADPKD).
Njengesifo se-tuberous sclerosis, isifo se-polycystic esiphezulu se-autosomal esibangela ukuthi izicubu zikhule ezinso.
Ngokuphathelene ne-mechanics, i- TSC1 ne- TSC2 yenza umonakalo ngokufaka ikhodi ye-hamartin noma i-tuberin egcina ihlanganisa ukungena kwiprotheni eyinkimbinkimbi. Lezi zindlovu eziyinkimbinkimbi zisekelini ze-cilia futhi ziphazamisa ukubonakaliswa kwe-intracellular, okuhlanganyelwe yi-enzyme (protein kinase) mTOR. Ngokuphazamisa i-mTOR, ukuhlukaniswa kwamaseli, ukuphindaphinda nokukhula kuyathinteka, futhi ukukhula okungavamile kwezinto ezibuhlungu kuphumela. Ngokuthakazelisayo, ososayensi bazama ukuthuthukisa i-mTOR inhibitors engasetshenziselwa ukwelashwa kwe-tuberous sclerosis.
Izimpawu
I-tuberous sclerosis iyinkimbinkimbi futhi ibonisa ukuthi yizimpawu ezibandakanya izinhlelo ezihlukahlukene zemizimba. Ake sibheke imiphumela emisebenzini emine yesigungu: ubuchopho, izinso, isikhumba nenhliziyo.
Ukubandakanya ubuchopho. I-Tuberous sclerosis ibangela izinhlobo ezintathu zezifo emqondweni: (1) izilimo eziyizigaxa ezikhanda , ezivame ukuvela ebuchosheni kodwa zingathuthuka ngokujulile ebuchosheni; (2) ama-nodules ase-supependymal , ayenzeka emaqenjini; futhi (3) i- astroytomas e-giant-cell e-supependymal , ephuma emigqumeni ye-supependymal futhi ivimbele ukugeleza kobuchopho ebuchosheni, ngaleyo ndlela kubangele ukwakhiwa kwengcindezi ebuchosheni okuholela emakhanda kanye nombono ongenalutho.
I-Brain pathology eyiseceleni kwesifo se-tuberous sclerosis ngokuvamile iyisiphumo esiyingozi kunazo zonke zalesi sifo. Ukubambezeleka nokuphuza ukuthuthukiswa kuvamile kulabo abanalesi sifo.
Ukubandakanyeka kwezinso. Ngokuvamile kakhulu i-tuberous sclerosis iholela ekufweni kwezinso ezingapheli nokuhluleka kwezinso ; lapho u-urinalysis, i-urine sediment ngokuvamile ayinakwenzeka futhi iproteinuria (amazinga amaprotheni emcinini) alula kancane. (Abantu abanesifo esinzima kakhulu sezinso bangakwazi "ukuchitha" noma balahle amaprotheni emcintini.)
Esikhundleni salokho, izimpawu zezinso kanye nezibonakaliso ezingenzeka kulabo abane-tuberous sclerosis zihlanganisa ukukhula kwezifo ezibizwa nge- angiomyolipomas .
Lezi zinambuzane zenzeka kuzo zombili izinso (ngokubili) kanti ngokuvamile ziba nesibindi, nakuba ziba zikhulu ngokwanele (ezingaphezu kwamamitha angu-4 ububanzi) zingakwazi ukuphuma futhi zizodingeka zisuswe ngokuhlinzwa.
Ngokungafani nesifo sezinso ze-polycystic, i-tuberous sclerosis ingandisa ingozi yokuthuthukisa i- renal cell carcinoma (umdlavuza we-AKA). Abantu abane-tuberous sclerosis kufanele bahlolwe njalo ngokusebenzisa i-imaging yokuxilonga ukuze bahlole ukuthuthukiswa komdlavuza wezinso.
Ukubandakanya isikhumba. Cishe bonke abantu abane-tuberous sclerosis abakhona ngezibonakaliso zesikhumba sesifo. Lezi zilonda zihlanganisa okulandelayo:
- ama-hypomelanotic macules ("amaqabunga e-ash ash" afaka isikhumba esikhunjeni esingenayo i-pigment futhi ngaleyo ndlela elula kunesikhumba esiseduze)
- i-shagreen patch (ukugxila isikhumba esikhumbeni)
- "Confetti" izilonda
- i-plaque ebusweni bomzimba
- ama-angiofibromas ebusweni
- i-fibromas yama-ungual
- i-adenoma sebaceum
Nakuba lezi zilonda zesikhumba zinobungozi, noma zingenakuqhathaniswa, zingabangela ukungasebenzi kahle, yingakho zingasuswa ngokuhlinzwa.
Ukubandakanyeka kwenhliziyo. Izinsana ezalwa nge-tuberous sclerosis zivame ukuletha izinambuzane zenhliziyo ezibizwa ngokuthi i- rhabdomyomas . Ezinganeni eziningi, lezi zicubu azibangeli izinkinga futhi zinciphisa ubudala. Kodwa-ke, uma izicubu zihola ngokwanele, zingavimbela ukujikeleza.
Ukwelapha
Ayikho ikhambi eliqondile le-tuberous sclerosis. Esikhundleni salokho, lokhu kuyinkimbinkimbi kuphathwa ngendlela efanele. Ngokwesibonelo, imishanguzo yokulwa nesifo sofuba inganikezwa ukuphatha izifo. Ukwelashwa kungenziwa futhi ukususa izicubu esikhumbeni, ebuchosheni, njalonjalo.
Abacwaningi bahlola izindlela ezintsha zokuphatha i-tuberous sclerosis. Ngokusho kweNational Institute of Neurological Disorders and Stroke:
"Ucwaningo lwezokucwaninga luqhuba i-gamut ekuphenyweni oluyisisekelo kakhulu lwesayensi kumcwaningi wokuhumusha emtholampilo. Isibonelo, abanye abaphenyi bazama ukuthola zonke izingxenye zeprotheni ezifanayo 'endleleni yokubonisa' lapho imikhiqizo yamaphrotheni ye-TSC1 ne-TSC2 ne-protein mTOR ibandakanyeka. Ezinye izifundo zigxile ekuqondeni ngokuningiliziwe ukuthi lesi sifo siqala kanjani, kokubili ezithombeni zezilwane nasezigulini, ukuchaza kangcono izindlela ezintsha zokulawula noma ukuvimbela ukuthuthukiswa kwesifo. Okokugcina, ukuvivinywa kokwelashwa kwe-rapamycin kuyaqhubeka (nge-NINDS ne-NCI ukwesekwa) ukuhlola ngobuqotho inzuzo engaba khona yalesi sakhi kwezinye zezifo eziyinkinga kwiziguli ze-TSC. "
Izwi elivela
Uma wena noma othandekayo kuthiwa une-tuberous sclerosis, sicela wazi ukuthi ukubikezela noma umbono wesikhathi eside salesi simo kuguquke kakhulu. Nakuba ezinye izinsana ezinalezi zimo zibhekene nokuhlukunyezwa okuqhubekayo nokucindezeleka okukhulu kwengqondo, abanye bayaqhubeka baphila impilo enempilo. Ukuguqulwa ekugcineni kuncike ekutheni usakaze yini ukusabalalisa noma ukusabalalisa. Noma kunjalo, abantu abanezimo kufanele bahlolwe ngokucophelela ngenxa yezinkinga ngoba kuhlale kusongelwa ukuthi isifo sobuchopho noma sezinso singaba sína futhi sengozini yokuphila.
> Imithombo:
> Darling TN. Isahluko 140. Isiklomelo se-Tuberous Sclerosis. Ku: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Dermatology ka-Fitzpatrick ku-General Medicine, 8e . ENew York, NY: McGraw-Hill; 2012.
> Kemp WL, Burns DK, Brown TG. Isahluko 6. Ukuphazamiseka Kwemfuyo. Ku: Kemp WL, Burns DK, Brown TG. ama-eds. Ukukhubazeka: Isithombe Esikhulu . ENew York, NY.
> I-Tuberous Sclerosis Fact Sheet Sheet. I-National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov
> Zhou J, Pollak MR. Izifo ze-Polycystic zezinso nezinye iziphazamiso ezibalwe yi-Tubule Growth and Development. Ku: Kasper D, Fauci A, Hauser S, Longo D, Jameson J, Loscalzo J. eds. I-Harrison's Principals of Internal Medicine, 19e . ENew York, NY: McGraw-Hill; 2015.