Izifo zethishu edibeneyo, ukusuka kwi-Genetic ukuya kwi-Autoimmune

Umxholo

• Iintlobo zezifo ezinxulumene nezihlunu
• Izifo ezinxibelelanayo zomzimba ngenxa yeziphene zohlobo olunye
• Izifo ezinxibelelanayo zezihlunu ezibonakaliswa kukudumba kwezicubu
• Oonobangela kunye neempawu zesifo sezicubu zomzimba
• Isifo se-Ehlers-Danlos
• Epidermolysis bullosa
• Isifo seMarfan
• I-Osteogenesis egqibeleleyo
• Oonobangela kunye neempawu zesifo sokuqina komzimba
• Polymyositis kunye nedermatomyositis
• Irheumatoid Arthritis
• Iscleroderma
• Isifo seSjogren
• Inkqubo yelupus erythematosus (SLE okanye lupus)
• I-Vasculitis
• Unyango
• Iingxaki
• Imbonakalo

Ushwankathelo

Izifo zezicubu ezinxibelelanayo zibandakanya inani elikhulu leengxaki ezahlukeneyo ezinokuchaphazela ulusu, amanqatha, izihlunu, amalungu, imisipha, imisipha, ithambo, intlala, kunye neliso, igazi kunye nemithambo yegazi. Izicubu ezinxibelelanayo zigcina iiseli zomzimba wethu kunye. Ivumela ukolulwa kwezicubu kulandele ukubuyela kuxinzelelo lwayo lwantlandlolo (njengebhanti yerabha). Yenziwe ziiproteni, ezinjenge-collagen kunye ne-elastin. Izinto zegazi, ezinje ngeeseli ezimhlophe zegazi kunye neeseli zemasti, nazo zibandakanyiwe ekwenzeni kwayo.

Iintlobo zezifo ezinxulumene nezihlunu

Kukho iintlobo ezininzi zezifo ezinxulumene nezihlunu. Kuyanceda ukucinga ngeendidi ezimbini eziphambili. Udidi lokuqala lubandakanya ezo zizuzwe njengelifa, zihlala zibangelwa sisiphene semfuza esinye esibizwa ngokuba lutshintsho. Udidi lwesibini lubandakanya ezo kulapho izihlunu eziqhagamsheleneyo kujolise kuzo kwiintsholongwane ezichasene nayo. Le meko ibangela ubomvu, ukudumba, kunye nentlungu (ekwabizwa ngokuba kukudumba).

Izifo ezinxibelelanayo zomzimba ngenxa yeziphene zohlobo olunye

Izifo ezinxibelelanayo zomzimba ngenxa yesiphene sodidi olunye kubangela ingxaki kulwakhiwo kunye namandla ezinyama ezihlangeneyo. Imizekelo yale miqathango ibandakanya:

• Isifo se-Ehlers-Danlos (EDS)
• Epidermolysis Bullosa (EB)
• Isifo seMarfan
• I-Osteogenesis egqibeleleyo

Izifo ezinxibelelanayo zezihlunu ezibonakaliswa kukudumba kwezicubu

Izifo ezinxibelelanayo zethishu ezibonakaliswa kukudumba kwezicubu zibangelwa zizikhuseli zomzimba (ezibizwa ngokuba zii-autoantibodies) ezenziwe ngokungachanekanga ngumzimba ngokuchasene nezicwili zazo. Ezi meko zibizwa ngokuba zizifo ezizimelayo. Okubandakanyiweyo kolu didi zezi meko zilandelayo, ezihlala ziphathwa yingcali yonyango ebizwa ngokuba yirheumatologist:

• Polymyositis
• Dermatomyositis
• Isifo samathambo (RA)
• Iscleroderma
• Isifo seSjogren
• Inkqubo ye lupus erythematosis
• I-Vasculitis

Abantu abanezifo zezicubu ezinxibelelanayo banokuba neempawu zezifo ezingaphezu kwesinye. Kwezi meko, oogqirha bahlala bebhekisa kwisifo njengesixhobo esihlangeneyo sesicwili.

Oonobangela kunye neempawu zesifo sezicubu zomzimba

Oonobangela kunye neempawu zesifo esihambelana nezicubu ezibangelwa sisiphene sodidi olunye ziyahluka ngenxa yoko iprotein iveliswa ngokungaqhelekanga nguloo mfuzuko ungalunganga.

Isifo se-Ehlers-Danlos

I-Ehlers-Danlos syndrome (i-EDS) ibangelwa yingxaki yokwenziwa kwe-collagen. I-EDS ngenene liqela leziphazamiso ezingaphezu kwe-10, zonke zibonakaliswa lulusu ololuliweyo, ukukhula okungaqhelekanga kwezihlunu ezibomvu, kunye nokudibana okungaphezulu kokuguqukayo. Ngokuxhomekeka kuhlobo oluthile lwe-EDS, abantu banokuba nayo imithambo yegazi ebuthathaka, umqolo ojijekileyo, iintsini ezophayo okanye iingxaki ngezivalo zentliziyo, imiphunga, okanye ukwetyisa. Iimpawu ziqala ukusuka kubumnene ukuya kubunzima obugqithisileyo.

Epidermolysis bullosa

Ngaphezulu kolunye uhlobo lwe-epidermolysis bullosa (EB) eyenzekayo. Iiproteni ezinxibelelanayo ezinjengekeratin, i-laminin, kunye ne-collagen zinokungaqhelekanga. I-EB ibonakaliswa lulusu olubuthathaka ngokukhethekileyo. Ulusu lwabantu abane-EB bahlala bebhabha okanye iinyembezi nakweyona nto incinci okanye ngamanye amaxesha nokuba kukwimpahla yokurabha ngokuchasene nayo. Ezinye iintlobo ze-EB zichaphazela indlela yokuphefumla, indlela yokugaya ukutya, isinyi, okanye izihlunu.

Isifo seMarfan

Isifo seMarfan sibangelwa sisiphene kwinxalenye yeethishu yefibrillin. Ichaphazela iigaments, amathambo, amehlo, imithambo yegazi kunye nentliziyo. Abantu abaneMarfan syndrome bahlala bade ngokungaqhelekanga kwaye babhityile, banamathambo amade kakhulu kunye neminwe neenzwane ezibhityileyo. UAbraham Lincoln usenokuba wayenayo. Ngamanye amaxesha abantu abaneMarfan syndrome banenxalenye eyandisiweyo ye-aorta yabo (aortic aneurysm) enokuthi ikhokelele kuqhushumbo olubulalayo.

I-Osteogenesis egqibeleleyo

Abantu abaneengxaki ezahlukeneyo zohlobo olunye ezibekwe phantsi kwesi sihloko bonke banezinto ezingaqhelekanga ze-collagen kunye nobunzima bemisipha ephantsi, amathambo aqhekezayo, kunye nemisipha edibeneyo kunye namalungu. Ezinye iimpawu ze-osteogenesis imperfecta zixhomekeke kuxinzelelo oluthile lwe-osteogenesis imperfecta abanalo. Oku kunokubandakanya ulusu olucekeceke, umqolo ojijekileyo, ukungaboni kakuhle, iingxaki zokuphefumla, amazinyo aphuka ngokulula, kunye nombala ongwevu oluhlaza okwesibhakabhaka kubamhlophe bamehlo.

Oonobangela kunye neempawu zesifo sokuqina komzimba

Izifo ezinxulumene nezicubu ngenxa yesimo sokuzimela komzimba zixhaphake kakhulu kubantu abanendibaniselwano yemfuza eyonyusa ithuba lokuba behle nesifo (ngesiqhelo njengabantu abadala). Zikwenzeka rhoqo kubantu basetyhini kunamadoda.

Polymyositis kunye nedermatomyositis

Ezi zifo zibini ziyahambelana. I-Polymyositis ibangela ukudumba kwezihlunu. I-Dermatomyositis ibangela ukudumba kolusu. Iimpawu zezifo zombini ziyafana kwaye zinokubandakanya ukudinwa, ukubuthathaka kwezihlunu, ukuphefumla kancinci, ubunzima bokuginya, ukwehla kobunzima, kunye nomkhuhlane. Umhlaza unokuba yimeko enxulumene noko kwezinye zezi zigulana.

Irheumatoid Arthritis

Kwi-rheumatoid arthritis (RA), amajoni omzimba ahlasela inwebu ecekeceke edibanisa amalungu. Oku kubangela ukuqina, iintlungu, ukufudumala, ukudumba, kunye nokudumba emzimbeni wonke. Ezinye iimpawu zinokubandakanya i-anemia, ukudinwa, ukungabinamdla wokutya, kunye nefiva. I-RA inokuwonakalisa ngokusisigxina amalungu kwaye ikhokelele kwisiphene. Kukho iindlela zobuntwana zabantu abadala nezingaqhelekanga kule meko.

Iscleroderma

Iscleroderma sibangela ulusu oluqinileyo nolungqingqwa, izicwili ezibomvu kunye nomonakalo kumzimba. Iindidi zale meko ziwela kumaqela amabini: eyasekhaya okanye ye-systemic scleroderma. Kwiimeko zalapha ekhaya, imeko leyo igcinwe esikhumbeni. Iimeko zenkqubo ikwabandakanya amalungu amakhulu kunye nemithambo yegazi.

Isifo seSjogren

Iimpawu eziphambili ze-Sjogren's syndrome ngumlomo owomileyo namehlo. Abantu abakule meko banokudinwa kakhulu kunye neentlungu kumalungu. Imeko inyusa umngcipheko we-lymphoma kwaye inokuchaphazela imiphunga, izintso, imithambo yegazi, inkqubo yokugaya ukutya, kunye nenkqubo yovalo.

Inkqubo yelupus erythematosus (SLE okanye lupus)

ILupus ibangela ukudumba kolusu, amalungu kunye namalungu. Ezinye iimpawu zinokubandakanya irhashalala ezidleleni nasempumlweni, izilonda zomlomo, ubuntununtunu elangeni, ulwelo entliziyweni nasemiphungeni, ukulahleka kweenwele, iingxaki zezintso, ianemia, iingxaki zememori, kunye nokugula ngengqondo.

I-Vasculitis

I-Vasculitis lelinye iqela leemeko ezichaphazela imithambo yegazi nakweyiphi na indawo yomzimba. Iimpawu eziqhelekileyo zibandakanya ukulahleka kwesidlo, ukunciphisa umzimba, iintlungu, umkhuhlane kunye nokudinwa.Stroke sinokwenzeka ukuba imithambo yegazi yengqondo iyatsha.

Unyango

Okwangoku akukho lunyango kuso nasiphi na isifo sezicubu ezinxibelelanayo. Ukophuka kunyango lwemfuza, apho iingxaki ezithile zemfuza zithe cwaka, zibambe isithembiso sesifo esinye sofuzo kwizicwili ezinxibelelanayo.

Xa izifo autoimmune kwezihlunu ezihlangeneyo, unyango ijolise ekuncedeni ukunciphisa iimpawu. Unyango olutsha lweemeko ezinje nge-psoriasis kunye nesifo samathambo lunokucinezela ukungasebenzi komzimba okubangela ukudumba.

Amayeza aqhelekileyo asetyenziswa kunyango lwezifo ezisebenza ngokuzibandakanya emzimbeni zezi:

• ICorticosteroids. La mayeza anceda ukukhusela amajoni omzimba ekuhlaseleni iiseli zakho kunye nokuthintela ukudumba.
• Amagciwane. La mayeza anceda amajoni omzimba.
• Iziyobisi Antimalarial. I-Antimalarials inokunceda xa iimpawu ziphakathi, zinokuthintela nokuqhambuka.
• Isithinteli seCalcium blocker. La mayeza anceda ukukhulula izihlunu ezindongeni zemithambo yegazi.
• Imethotrexate. Eli yeza linceda ekulawuleni iimpawu zesifo samathambo.
• Amayeza oxinzelelo lwegazi. La mayeza avula imithambo yegazi kwimiphunga echaphazeleke kukudumba komzimba, ukuvumela igazi ukuba liphume ngokulula.

Ngotyando, ukusebenza kwi-aortic aneurysm yesigulana esino-Ehlers Danlos okanye ii-syndromes zikaMarfan kunokusindisa ubomi. Olu tyando luphumelele ngokukodwa ukuba lwenziwe ngaphambi kokuphuka.

Iingxaki

Usulelo lunokuzenza nzima izifo ezizimeleyo.

Abo baneMarfan syndrome banokugqabhuka okanye baphule i-aortic aneurysm.

I-Osteogenesis Imperfecta yezigulana zinokuphucula ubunzima bokuphefumla ngenxa yomqolo kunye neengxaki zembambo.

Izigulana ezine-lupus zihlala zine-fluid eqokelelene ecaleni kwentliziyo enokubulala. Ezi zigulana zinokuxhuzula ngenxa ye-vasculitis okanye ukudumba kwe-lupus.

Ukusilela kwezintso yingxaki eqhelekileyo yelupus kunye ne-scleroderma. Zombini ezi ngxaki kunye nezinye izifo ezisebenza ngokuzimeleyo zingakhokelela kwiingxaki nemiphunga. Oku kunokukhokelela ekuphefumlweni okuphefumlayo, ukukhohlela, ukuphefumla nzima kunye nokudinwa okukhulu. Kwiimeko ezinzima, iingxaki zemiphunga zesifo sezicubu ezinxulumene nazo zinokubulala.

Imbonakalo

Kukho umahluko obanzi kwindlela abaguli abane-single-gene okanye izifo ezisebenza ngokuzikhusela kwizifo ezizenzekelayo ekuhambeni kwexesha. Nokuba kunyango, izifo ezinxulumene nezihlunu zihlala zisiba mbi. Nangona kunjalo, abanye abantu abaneentlobo ezinobulali ze-Ehlers Danlos syndrome okanye iMarfan syndrome abadingi nyango kwaye banokuhlala ebudaleni.

Ngombulelo kunyango olutsha lomzimba kwizifo ezizimele, abantu bangonwabela iminyaka emininzi yesifo esincinci kwaye banokuzuza xa ukudumba "kutshisa" ngokuguga.

Ngokubanzi, uninzi lwabantu abanezifo ezinxulumene nezihlunu ziya kuphila iminyaka eli-10 ubuncinci emva kokuchongwa kwabo. Kodwa nasiphi na isifo somzimba esidibeneyo, nokuba sisiswini esinye okanye inxulumene nokuzimela, sinokuba nesifo esibi kakhulu.