Izifo Zethambo Elixhuma, kusuka ku-Genetic kuya ku-Autoimmune

-Delile

• Izinhlobo zesifo sezicubu ezixhuma
• Izifo zezicubu ezixhuma ngenxa yokukhubazeka kohlobo olulodwa
• Izifo zezicubu ezixhumanayo ezibonakala ngokuvuvukala kwezicubu
• Izimbangela nezimpawu zesifo sezicubu ezixhumene nofuzo
• Isifo se-Ehlers-Danlos
• I-Epidermolysis bullosa
• Isifo seMarfan
• I-Osteogenesis imperfecta
• Izimbangela nezimpawu zesifo sezicubu ezixhuma ngokuzenzakalela
• I-Polymyositis ne-dermatomyositis
• Isifo samathambo
• I-Scleroderma
• I-Sjogren's syndrome
• Uhlelo lupus erythematosus (SLE noma lupus)
• I-Vasculitis
• Ukwelashwa
• Izinkinga
• Umbono

Ukubuka konke

Izifo zezicubu ezixhuma zifaka inani elikhulu lokuphazamiseka okuhlukahlukene okungathinta isikhumba, amafutha, imisipha, amalunga, imisipha, imisipha, ithambo, uqwanga, ngisho neso, igazi, nemithambo yegazi. Izicubu ezixhunyiwe zigcina amaseli omzimba wethu ehlangene. Ivumela ukunwetshwa kwezicubu okulandelwa ukubuyela ekuqineni kwayo koqobo (njengebhande lenjoloba). Yenziwe ngamaprotheni, njenge-collagen ne-elastin. Izakhi zegazi, njengamaseli amhlophe egazi namaseli amancane, nawo afakiwe ekwakhekeni kwawo.

Izinhlobo zesifo sezicubu ezixhuma

Kunezinhlobo eziningi zesifo sezicubu ezixhumanayo. Kuyasiza ukucabanga ngezigaba ezimbili ezinkulu. Isigaba sokuqala sifaka lezo ezizuzwe njengefa, imvamisa ngenxa yesici sofuzo olulodwa olubizwa ngokuthi ukuguquka kwezakhi zofuzo. Isigaba sesibili sifaka phakathi lapho izicubu ezixhunyanisiwe kungumgomo wama-antibodies aqondiswe kuwo. Lesi simo sidala ububomvu, ukuvuvukala nobuhlungu (obaziwa nangokuthi ukuvuvukala).

Izifo zezicubu ezixhuma ngenxa yokukhubazeka kohlobo olulodwa

Izifo zezicubu ezixhuma ngenxa yokukhubazeka kohlobo olulodwa zidala inkinga ekwakhiweni nasekuqineni kwezicubu ezixhuma. Izibonelo zale mibandela zifaka:

• Isifo se-Ehlers-Danlos (EDS)
• I-Epidermolysis bullosa (EB)
• Isifo seMarfan
• I-Osteogenesis imperfecta

Izifo zezicubu ezixhumanayo ezibonakala ngokuvuvukala kwezicubu

Izifo zezicubu ezixhumanayo ezibonakala ngokuvuvukala kwezicubu zibangelwa amasosha omzimba (abizwa ngokuthi ama-autoantibodies) umzimba awenza ngokungafanele ngokumelene nezicubu zawo. Lezi zimo zibizwa ngokuthi izifo ezizimele. Kulesi sigaba kufakwe imibandela elandelayo, evame ukuphathwa ngudokotela wezokwelapha obizwa nge-rheumatologist:

• I-Polymyositis
• Dermatomyositis
• Isifo samathambo (RA)
• I-Scleroderma
• I-Sjogren's syndrome
• Uhlelo lwe-lupus erythematosis
• I-Vasculitis

Abantu abanezifo zezicubu ezixhunyiwe bangaba nezimpawu zezifo ezingaphezu kwesisodwa ze-autoimmune. Kulezi zimo, odokotela bavame ukubhekisa ekuxilongweni njengesifo sezicubu ezixubile.

Izimbangela nezimpawu zesifo sezicubu ezixhumene nofuzo

Izimbangela nezimpawu zesifo sezicubu ezixhunyanisiwe ezibangelwa ukukhubazeka kohlobo olulodwa kuyahlukahluka njengomphumela wamaprotheni akhiqizwa ngokungajwayelekile yilesakhi sofuzo esingalungile.

Isifo se-Ehlers-Danlos

I-Ehlers-Danlos syndrome (i-EDS) ibangelwa inkinga yokwakheka kwe-collagen. I-EDS empeleni iyiqembu lokuphazamiseka okungaphezu kwe-10, konke okubonakala ngesikhumba eselulekayo, ukukhula okungajwayelekile kwezicubu ezibomvu, kanye namalunga aguquguqukayo ngokweqile. Ngokuya ngohlobo oluthile lwe-EDS, abantu bangaba nemithambo yegazi ebuthakathaka, umgogodla ogobile, izinsini ezophayo noma izinkinga ngama-valve enhliziyo, amaphaphu, noma ukugaya. Izimpawu zisukela kokumnene kuya kokubi kakhulu.

I-Epidermolysis bullosa

Izinhlobo ezingaphezu kweyodwa ze-epidermolysis bullosa (EB) zenzeka. Amaprotheni wezicubu axhuma njenge-keratin, i-laminin, ne-collagen angajwayelekile. I-EB ibonakala ngesikhumba esibuthaka ngokukhethekile. Isikhumba sabantu abane-EB sivame ukuvuvukala noma siklebhule noma iqhubu elincane noma kwesinye isikhathi ngisho nasembatho wokuzihlikihla kuso. Ezinye izinhlobo ze-EB zithinta umgudu wokuphefumula, umgudu wokugaya ukudla, isinye, noma imisipha.

Isifo seMarfan

I-Marfan syndrome ibangelwa ukukhubazeka kwezicubu zomzimba ezixhumene ne-fibrillin. Ithinta imigqa, amathambo, amehlo, imithambo yegazi, nenhliziyo. Abantu abane-Marfan syndrome bavame ukuba bade ngokungajwayelekile futhi bazacile, banamathambo amade kakhulu neminwe nezinzwane ezondile. Kungenzeka ukuthi u-Abraham Lincoln wayenayo. Kwesinye isikhathi abantu abane-Marfan syndrome banengxenye ekhulisiwe ye-aorta yabo (i-aortic aneurysm) engaholela ekuqhumeni okubulalayo.

I-Osteogenesis imperfecta

Abantu abanezinkinga ezahlukahlukene zofuzo olulodwa ezibekwe ngaphansi kwalesi sihloko bonke banokungajwayelekile kwe-collagen kanye nobukhulu bemisipha ephansi, amathambo a-brittle, kanye nemisipha namalunga akhululekile. Ezinye izimpawu ze-osteogenesis imperfecta zincike ebunzimeni obuthile be-osteogenesis imperfecta abanazo. Lokhu kungafaka isikhumba esincanyana, umgogodla ogobile, ukungezwa, izinkinga zokuphefumula, amazinyo aphuka kalula, kanye nombala ompunga oluhlaza okwesibhakabhaka kwabamhlophe bamehlo.

Izimbangela nezimpawu zesifo sezicubu ezixhuma ngokuzenzakalela

Izifo zezicubu ezixhuma ngenxa yesimo sokuzivikela komzimba zivame kakhulu kubantu abanenhlanganisela yezakhi zofuzo ezandisa amathuba okuthi behle nalesi sifo (imvamisa njengabantu abadala). Zenzeka kaningi nakwabesifazane kunamadoda.

I-Polymyositis ne-dermatomyositis

Lezi zifo ezimbili zihlobene. I-Polymyositis ibangela ukuvuvukala kwemisipha. I-dermatomyositis ibangela ukuvuvukala kwesikhumba. Izimpawu zezifo zombili ziyafana futhi zingafaka ukukhathala, ubuthakathaka bemisipha, ukuphefumula okuncane, ubunzima bokugwinya, ukwehla kwesisindo nomkhuhlane. Umdlavuza ungaba yisimo esihambisanayo kwezinye zalezi ziguli.

Isifo samathambo

Ku-rheumatoid arthritis (RA), amasosha omzimba ahlasela ulwelwesi oluncane olugudla amalunga. Lokhu kubangela ukuqina, ubuhlungu, ukufudumala, ukuvuvukala nokuvuvukala emzimbeni wonke. Ezinye izimpawu zingafaka i-anemia, ukukhathala, ukungathandi ukudla, kanye nomkhuhlane. I-RA ingalimaza unomphela amalunga futhi iholele ekukhubazekeni. Kunezinhlobo zobuntwana zabantu abadala nezingajwayelekile kakhulu zalesi simo.

I-Scleroderma

I-Scleroderma idala isikhumba esiqinile, esijiyile, inqwaba yezicubu ezibomvu, nokulimala kwezitho zomzimba.Izinhlobo zalesi simo ziwela emaqenjini amabili: i-localized noma i-systemic scleroderma. Ezimweni ezenziwe zasendaweni, lesi sifo sigcina esikhunjeni kuphela. Amacala e-systemic afaka nezitho ezinkulu nemithambo yegazi.

I-Sjogren's syndrome

Izimpawu eziyinhloko ze-Sjogren's syndrome umlomo owomile namehlo. Abantu abanalesi simo nabo bangathola ukukhathala okukhulu nobuhlungu emajoyintini. Isimo sandisa ubungozi be-lymphoma futhi singathinta amaphaphu, izinso, imithambo yegazi, uhlelo lokugaya ukudla, nohlelo lwezinzwa.

Uhlelo lupus erythematosus (SLE noma lupus)

ILupus idala ukuvuvukala kwesikhumba, amalunga, nezitho. Ezinye izimpawu zingafaka ukuqubuka ezihlathini nasemakhaleni, izilonda zomlomo, ukuzwela elangeni, uketshezi enhliziyweni nasemaphashini, ukulahleka kwezinwele, izinkinga zezinso, i-anemia, izinkinga zememori, nokugula kwengqondo.

I-Vasculitis

I-Vasculitis elinye iqembu lezimo ezithinta imithambo yegazi kunoma iyiphi indawo yomzimba. Izimpawu ezivamile zifaka phakathi ukulahlekelwa isifiso sokudla, ukuncipha komzimba, ubuhlungu, umkhuhlane nokukhathala. Unhlangothi kungenzeka uma imithambo yegazi yobuchopho ivuvuka.

Ukwelashwa

Okwamanje alikho ikhambi lanoma yiziphi izifo ezixhuma izicubu. Ukuqhamuka ekwelashweni kofuzo, lapho kuthuliswa khona izakhi zofuzo ezithile, kubamba isithembiso sezifo zofuzo olulodwa zezicubu ezixhuma.

Ngezifo ezizimele zezicubu ezixhunyiwe, ukwelashwa kuhloswe ukusiza ukunciphisa izimpawu. Izindlela zokwelashwa ezintsha zezimo ezinjenge-psoriasis ne-arthritis zingacindezela ukugula komzimba okudala ukuvuvukala.

Imithi evame ukusetshenziswa ekwelapheni izifo zomzimba ezixhuma ngokuzenzakalela yilezi:

• Ama-Corticosteroids. Le mithi isiza ukuvikela amasosha omzimba ekuhlaseleni amaseli akho nokuvikela ukuvuvukala.
• Ama-immunomodulators. Le mithi izuzisa amasosha omzimba.
• Izidakamizwa ezilwa namagciwane. Ama-Antimalarials angasiza lapho izimpawu zimnene, futhi zingavimbela nokuqubuka.
• Ama-block block wesiteshi seCalcium. Le mithi isiza ukukhulula imisipha ezindongeni zemithambo yegazi.
• IMethotrexate. Lo muthi usiza ukulawula izimpawu zesifo samathambo.
• Imishanguzo yomfutho wegazi ophezulu. Le mithi ivula imithambo yegazi emaphashini athinteka ukuvuvukala okuzenzakalelayo, ivumela igazi ukuba ligobhoze kalula.

Ngokuhlinzwa, ukuhlinzwa nge-aortic aneurysm yesiguli esine-Ehlers Danlos noma ama-syndromes kaMarfan kungasindisa impilo. Lokhu kuhlinzwa kuphumelela ikakhulukazi uma kwenziwa ngaphambi kokuqhekeka.

Izinkinga

Ukutheleleka kaningi kuyinkimbinkimbi yezifo ezizimele.

Labo abane-Marfan syndrome bangaba ne-aortic aneurysm eqhume noma eqhekekile.

Iziguli ze-Osteogenesis Imperfecta zingakhula ukuphefumula kanzima ngenxa yezinkinga zomgogodla nezimbambo.

Iziguli ezine-lupus zivame ukuba nokuqoqwa kuketshezi okuzungeze inhliziyo okungabulala. Iziguli ezinjalo zingaba nokuquleka ngenxa ye-vasculitis noma i-lupus inflammation.

Ukuhluleka kwezinso kuyinkinga evamile ye-lupus ne-scleroderma. Kokubili lokhu kuphazamiseka nezinye izifo zomzimba ezixhumanayo kungaholela ezinkingeni namaphaphu. Lokhu kungaholela ekuphefumuleni, ukukhwehlela, ukuphefumula kanzima, nokukhathala okukhulu. Ezimweni ezimbi kakhulu, izinkinga zamaphaphu zesifo sezicubu ezihlanganayo zingabulala.

Umbono

Kunokwehlukahluka okubanzi kokuthi iziguli ezine-single-gene noma izifo ezisebenza ngokuzicindezela ezisebenza ngokuhamba kwesikhathi zenza kanjani ngokuhamba kwesikhathi. Ngisho nangokwelashwa, izifo ezixhuma izicubu zivame ukuba zimbi kakhulu. Kodwa-ke, abanye abantu abanezinhlobo ezimnene ze-Ehlers Danlos syndrome noma iMarfan syndrome abadingi ukwelashwa futhi bangaphila baze babe badala.

Ngenxa yokwelashwa kwamasosha omzimba okusha kwezifo ezizimele, abantu bangajabulela iminyaka eminingi yemisebenzi emincane yezifo futhi bangazuza lapho ukuvuvukala "kusha" ngokuguga.

Sekukonke, iningi labantu abanezifo zezicubu ezixhumayo lizophila okungenani iminyaka eyi-10 ngemuva kokutholakala kwabo. Kepha noma yisiphi isifo sezicubu esixhumanayo, noma ngabe yisakhi esisodwa noma sihlobene nomzimba, singaba nesibikezelo esibi kakhulu.