Bayani
Ciwon kwayar cututtuka na kwayoyin cuta (cututtuka mai tsauri) shine cututtukan kwayoyin cututtukan da ke haifar da ciwon sukari masu girma a wasu kwayoyin halitta, ciki har da kwakwalwa, kodan, zuciya, huhu, idanu, hanta, pancreas, da fata. Wadannan ciwace-ciwacen za su iya haifar da jinkirin cigaba, kisa, cutar koda kuma mafi; Duk da haka, ƙwarewar ƙarshe ya dogara ne akan yaduwar watsawa ko yadawa.
Daga qarshe, mutane da yawa tare da yanayin sun ci gaba da rayuwa mai kyau.
Menene Ma'anar 'Cutar Sclerosis'
Tare da tube-sclerosis, tubers ko dankali-kamar ciwace-ciwacen daji girma a cikin kwakwalwa. Wadannan ci gaba suna ƙidayar, da wuya, da kuma sclerotic . An gano kimanin shekaru 100 da kwayar cutar scrrosis ta hanyar likitan Faransa kuma sunaye sunaye biyu sun san su: epiloia ko cutar ta Bourneville .
Tsarin jima'i
Saboda tuble sclerosis kyauta ne mai wuya, yana da wuyar ƙaddamar da ainihin mita. An kiyasta cewa wannan cuta yana shafar tsakanin 25,000 da 40,000 Amirkawa da kuma tsakanin mutane miliyan daya da miliyan a dukan duniya.
Dalilin
Za a iya samun kyakyawan kwayar cutar ta hanyar kyamara a cikin wani tsari mai mahimmanci . Tare da cututtuka masu kamuwa da jini, iyaye guda ɗaya kawai suna buƙatar samun kwafin mahaukaciyar mutuntaka don aukuwar rashin lafiya zuwa ga ɗa ko 'yar. Sauran-kuma mafi yawan kwayar cutar screrosis na iya haifar da maye gurbi ko kuma maye gurbi a cikin mutumin da ya shafa, ba tare da iyaye da ke ɗauke da maye gurbin mutum wanda ke da alhakin haifar da sclerosis ba.
Magungunan sclerosis na kwayoyin cutar yana haifar da maye gurbi a cikin ko dai TSC1 ko TSC2 , wanda ya hada da hamartin ko tuberin , daidai da haka. ( TSC1 yana samuwa a kan chromosome 9, kuma TSC2 yana samuwa a kan chromosome 16.) Bugu da ƙari kuma, saboda ƙwayar TSC1 tana kusa da gwargwadon PKD1 - saboda haka yana kara yiwuwar dukkanin kwayoyin cutar da ke faruwa-mutane da dama wadanda suka gaji sclerosis mai magungunan kuma sun sami rinjaye masu rinjaye polycystic koda cuta (ADPKD).
Kamar kambi na tuberous sclurosis, ƙaƙƙarfar magungunan ƙwayoyin cuta na polycystic zai haifar da ciwace-ciwacen daji a cikin kodan.
Dangane da masu aikin injiniya, TSC1 da TSC2 sunyi lalacewa ta hanyar coding ga hamartin ko tuberin wanda ya ƙare har zuwa cikin hadarin gina jiki. Wadannan bayanan sunadaran gina jiki a gindin cilia kuma suna tsangwama tare da sigina na intracellular, wanda ake yaduwa da enzyme (protein kinase) mTOR. Ta hanyar tsangwama tare da mTOR, rarrabawar kwayar halitta, rikitawa da ci gaba sun shafi, da kuma ciwo mai mahimmanci na sakamakon ciwace-ciwacen ƙwayoyi. Abin sha'awa shine, masana kimiyya suna ƙoƙari su ci gaba da maganin masu kwantar da hankulan mTOR waɗanda za a iya amfani dashi a matsayin maganin scletrosis.
Cutar cututtuka
Harshen sclerosis mai zurfi yana da hadari kuma ta haka yana nuna kamar bayyanar cututtuka da ke tattare da tsarin tsarin kwayoyin halitta. Bari mu dubi tasiri akan wasu sassan kwayoyin halitta guda hudu: kwakwalwa, kodan, fata da zuciya.
Shafin hannu. Magungunan sclerosis na cututtuka yana haifar da nau'i-nau'i guda uku a cikin kwakwalwa: (1) ƙwayar cortical , wadda yawanci ke faruwa a kan kwakwalwa amma zai iya zurfafawa cikin kwakwalwa; (2) nodules supependymal , wanda ke faruwa cikin ventricles; da kuma (3) giant-cell astroytomas , wanda ya fito ne daga nodules mai zurfi kuma ya kwantar da ruwan kwarara a cikin kwakwalwa, saboda haka ya haifar da ginawa a cikin kwakwalwar kwakwalwa don kawo ciwon kai da hangen nesa.
Ƙwararren ilimin likita na kwakwalwa na biyu zuwa tube sclerosis yawanci shine mafi yawan lalacewa sakamakon wannan cuta. Riga da kuma jinkirta ci gaba suna da yawa a cikin waɗanda ke fama da wannan rashin lafiya.
Takaddun koda. Very wuya ba tuberous sclerosis haifar da na kullum koda cuta da kuma koda gazawar ; a kan gaggawa, fitsari sutura ne sau da yawa rashin jin dadi da kuma proteinuria (matakan gina jiki a cikin fitsari) yana da muni kadan. (Mutanen dake da cutar koda mai tsanani suna iya "zubar" ko kuma sun rasa furotin a cikin fitsari.)
Maimakon haka, alamun koda da alamun bayyanar cututtuka a waɗanda suke tare da kwayar cututtuka na tuberous sun hada da ci gaban ciwon sukari da ake kira angiomyolipomas .
Wadannan ciwace-ciwacen da ke faruwa a cikin kodan biyu (haɗin gwiwa) kuma yawanci suna da alhakin, ko da yake idan sun sami girma (fiye da 4 inimita a diamita), za su iya zub da jini kuma zasu buƙaci a cire su ta jiki.
Bayanin kula da irin cutar cututtukan polycystic, tube sclerosis zai iya ƙara haɗarin bunkasa ƙwayar halittar ƙwayar halitta ta jiki (AKA ciwon daji). Mutanen da ke dauke da sclerosis ya kamata a duba su a kai a kai ta yin amfani da hotunan bincike don bincika ci gaba da ciwon ƙwayar koda.
Takaddun fata. Kusan duk mutanen da ke dauke da kwayar cututtuka na tuberous da suke nunawa da bayyanar fata na cutar. Wadannan raunuka sun haɗa da wadannan:
- magungunan hypomelanotic ("spots ash leaf" wanda yake da alamun fata akan fata wanda ba shi da alade kuma yana da haske fiye da kewaye da fata)
- shagreen patch (mai da hankali leathery thickening na fata)
- "Raunuka" confetti "
- fibrous facial plaque
- facial angiofibromas
- unbual fibromas
- adenoma sebaceum
Ko da yake waɗannan raunuka na fata ba su da kyau, ko kuma ba su da kariya, za su iya haifar da lalacewa, wanda shine dalilin da ya sa za a iya cire su ta jiki.
Hanyar zuciya. Yara da aka haifa tare da tube-sclerosis mai sauƙi sukan kasance tare da ciwon ƙwayar zuciya da ake kira rhabdomyomas . A mafi yawan jarirai, wadannan ciwon sukari ba sa haifar da matsalolin da suke raguwa da shekaru. Duk da haka, idan ciwon sukari ya sami girma, zasu iya toshe sassan.
Jiyya
Babu magani na musamman don tube scletrosis. Maimakon haka, wannan tsari yana bi da alama. Alal misali, magungunan antiepileptic za a iya ba da magani. Za'a iya yin aikin tiyata don cire ƙwayar warkaswa daga fata, kwakwalwa, da sauransu.
Masu bincike suna nazarin hanyoyin da za su bi da maganin sclerosis. Bisa ga Cibiyar Nazarin Cibiyoyin Kwayoyin Tsaro ta Duniya da Hutun daji:
"Nazarin bincike yana gudanar da gamuwa daga binciken kimiyya na ainihin bincike na bincike na asibiti. Alal misali, wasu masu binciken suna ƙoƙarin gano duk abubuwan da suka shafi sunadarai wadanda suke cikin hanyar 'alamar sigina' wadda ke da alamun TSC1 da TSC2 da furotin mTOR. Sauran nazarin suna mayar da hankali kan fahimtar yadda cutar ta taso, a cikin dabbobin dabba da kuma marasa lafiya, don ƙaddara sababbin hanyoyi na sarrafawa ko hana ci gaban cutar. A ƙarshe, gwagwarmayar gwagwarmaya na rapamycin suna gudana (tare da NINDS da NCI goyon baya) don gwada gwagwarmayar amfani da wannan fili ga wasu daga cikin ciwon daji wanda ke da matsala a cikin marasa lafiyar TSC. "
Kalma Daga
Idan kai ko wanda kake ƙaunata an gano shi tare da kwayar cutar tuberous, don Allah san cewa hangen nesa ko hangen zaman gaba na tsawon lokaci don wannan yanayin yana da matukar canji. Kodayake wasu jarirai da wannan yanayin sun fuskanci kullun rayuwa da kuma mummunar tashin hankali, wasu suna ci gaba da zama lafiya. Fahimcin ƙwarewa ya dogara ne akan ƙaddamarwar yaduwa ko yadawa. Duk da haka, mutanen da ke cikin wannan yanayin ya kamata a kula da su sosai don matsalolin saboda akwai barazanar cewa kwakwalwa ko ƙwayar koda zai iya zama mummunar barazanar rayuwa.
> Sources:
> Darling TN. Babi na 140. Cibiyar Sclerosis ta Tuberous. A cikin: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Fitzpatrick ta Dermatology a General Medicine, 8th . New York, NY: McGraw-Hill; 2012.
> Kemp WL, Burns DK, Brown TG. Babi na 6. Rawanin Halitta. A cikin: Kemp WL, Burns DK, Brown TG. eds. Hoto: Babban Hoton . New York, NY.
> Rubutun Magunguna Sclerosis. Ƙungiyar Cibiyar Kwayoyin Tsaro ta Duniya da Tashin Kashe. http://www.ninds.nih.gov
> Zhou J, Pollak MR. Cututtuka na ƙwayoyin ƙwayoyin cutar ta Polycystic da sauran cututtukan da aka haɗu na Tubule Growth da Development. A: Kasper D, Fauci A, Hauser S, Longo D, Jameson J, Loscalzo J. eds. Ka'idodin Magungunan Ciki na Harrison, 19th . New York, NY: McGraw-Hill; 2015.