Ukuswela alpha-1-antitrypsin: iimpawu, ebangela, isifo kwaye afumane unyango

Ukuswela alpha-1-antitrypsin - isifo yohlobo ngokwemvelo, ezosulela kumgangatho yemfuza, kunye lwaluzibona umntwana. Iimpawu ziqala ukuvela ngemihla yokuqala yobomi yosana. Ngemiqondiso lwezonyango beba isohluka nangakumbi, yaye ngokuthe ngcembe imeko yomguli mandundu ngokuhamba kwexesha. Xa izigulane ezininzi, oogqirha ukufumanisa uhlobo yemiphunga nezengekho sifo. 12 Kuphela% yezigulane iimpawu zesibindi kwithishyu. yesilungu akanazinto ezithile ukunyanga izifo. Ngoko ke, le ndlela yokulinganisa ifanele kujoliswe ekunqandeni phambili kwesifo.

Yintoni Alpha-1 antitrypsin?

Le protein, nenoxanduva ekuveliseni iiseli zesibindi. Ukusuka apho, ingena egazini, aze emva koko ukuya emiphungeni. Kutheni sifuna le protini? Owona msebenzi walo ukukhusela inyama lung ngumonakalo kwezinye iintlobo iiprotheni - enzymes. Ezi izinto eziyimfuneko ukuze isikolo sisebenze eqhelekileyo kunye nophuhliso yonke eziphilayo. Umzekelo, proteases anoxanduva ekususeni iintsholongwane emiphungeni, ukunceda ukuba ulwe usulelo. Xa wakhululwayo kukuninzi, nabo igalelo kukhuselo alveoli ukusuka ukuphefumla umsi wecuba. Umsebenzi kwezi enzayim kufuneka ukulungelelana. Xa parameters msitho ukwandisa izinto pulmonary aqale anyibilike. Alpha-1 antitrypsin ikuvumela ukunyenyisa umsebenzi we-enzayim ye-protease.

Njani na kusilela?

Xa iseli enye ingxenye iqulethe zofuzo 46 kuphela. Bonke bephela yahlulwe 23 ngababini. Xa isibini ngasinye, omnye chromosome ilifa ukusuka kuyise, enye - ukusuka kumama. Yesakhiwo filamentary. Kwelinye icala, isakhi ngasinye iqulathe kulandelelwano ethile deoxyribonucleic acid kwaye ithatha indawo ethile apha chromosome. Kwakhona ulawula imisebenzi ethile okanye ukwenza umsebenzi wabo emzimbeni. DNA yakha genetic material oluntu.

Insufficiency Alpha--antitrypsin 1 gene sikhatshwa umonakalo chromosome №14. Ukuba Uphindaphindo kwiproteni ayikho ekuveliseni izixa efunekayo, usenziwa intsilelo. Le into lifakwa esibindini yaye ungangeni ijwabu semiphunga. iphula enjalo ibandakanya umonakalo kuphuhliso alveoli kunye emphysema. protein lentsalela esibindini lula ukuyilwa kwesiva kwithishyu. Ngenxa yokuba zokuphuhlisa sisibindi.

mechanism ukudluliselwa isifo

ezimbi kuqala luphawulwa kukungabikho alpha--antitrypsin 1, kuchazwa 1963 yi igqirha Danish i Wall aphumela. Namhlanje unesifo kunqabile kakhulu. Nangona kunjalo, inani lezigulane lenyuka ngendlela zejometri ukuqhubela phambili. Kutheni? Yonke le nto kubunjani yemfuza izifo. Esi sifo sidluliselwa ngabazali bobabini sakhi engaqhelekanga. Ngokutsho manani, malunga 1 Umntu 25, isiphako enjalo unesifo. Ukuba kwamaqabane amabini besini esahlukileyo isakhi esinesiphene isigqibo ukukhawula umntwana, kunye namathuba ephakamileyo ukukhanya iya kuba ngumntwana engekho mpilweni. Ukuza kuthi ga ngoku, kuba zonke abantu 5000 kukho kuphela mnye ngophuhliso umfanekiso opheleleyo clinical. Nje eminyaka embalwa edlulileyo, ezi zibalo amaxesha ngezantsi. 20 amawaka abantu badibana omnye kuphela sofuzo sinesiphene. Ezi nkcukacha-manani zibonisa ngokupheleleyo ubukhulu ezimbi ukwanda.

Iimpawu nemiqondiso sifo okokuqala

Lo mfanekiso kwezonyango inkqubo zophendlo lwezifo luqinisekiswa kakhulu ukwakheka kwalo kunye nobungakanani sisilonda. Kuba abantu abaninzi, iimpawu musa azibonakalisa eminyaka. Abanye, phezu koko, lo ngezifo iqhubeka ngokukhawuleza. Le nkqubo sihleli iimeko zobomi yomguli kunye nendlela awayephila ngayo.

ezibonisa pulmonary zezona zifo zixhaphakileyo. Abatshayayo baya kuvela emva kweminyaka engama-20. Izigulane babambelele indlela yokuphila esempilweni, le umbundu wedatha phantse 2 phinda-phinda (iminyaka 40-45). Okokuqala, kukho ukuphelelwa umoya emva umthambo kakhulu. Ngokuthe ngcembe kukhokelela kukwehla inkqubo sokuphefumla. Emva koko ujoyina khohlo. Esi sifo ngokuqhelekileyo luphawulwa amanxeba yokukrala phecana eliphezulu zemiphunga.

Ukuswela alpha-1-antitrypsin ebantwaneni, okanye mandithi zimpawu isibindi kuvela ngemihla yokuqala yobomi. Bona azibonakali ngohlobo sohlobo lwe umyalezo ongaziwayo, senyongo kwesikhumba. Ngeminyaka 14-16 uninzi iimeko zonyango zisonjululwe indlela zokunciphisa iimpawu hepatic. Kwezinye intsha wabasindisa iintlungu ngamaxesha athile ekhathazayo kwi hypochondrium ekunene. Imbonakalo Iimpawu hepatic amathuba omdala yeengxaki asakhasayo. Ipateni efanayo luphawulwa loloyiko ye inwebu sitho, kamva kukhokelela kwesibindi ngokuqatha nokufa womntu.

diagnosis umehluko

Protein alpha-1-antitrypsin idlala indima ebaluleke kakhulu ekusebenzeni yonke eziphilayo. ukusilela lwakhe ephelekwa iingxaki kakhulu, yaye ngamanye amaxesha ekhokelela ekufeni lomntu. Ingozi eyonyukileyo sifo zibandakanya:

• abatshayayo abantu emphysema, wabonakala engama-45;
• izigulane panniculitis;
• non-ONLY abo emphysema kwafunyaniswa ukuba emva kweminyaka engama-45;
• iintsana ezisanda kuzalwa kunye senyongo kakhulu kanye enzyme zesibindi siphakamileyo;
• Izigulane bronchiectasis of umyalezo ezingaziwayo.

Moshilongo umahluko isigulane kufuneka banike igazi ukuba alpha-1 antitrypsin. Ukuba uhlalutyo siqinisekisa ukuswela protein, ilungu ngalinye lentsapho yomguli kufuneka bangenele uviwo lonyango olupheleleyo ukubona sofuzo alusebenzi. Yonke eminye imisebenzi uxilongo ejoliswe ekuqinisekiseni ukuba iqondo lomonakalo kwithishyu. Ngamaxesha athile, kufuneka ukuba bahlolwe malunga:

• nokuhlola umthamo ubomi kwemiphunga kunye nezinga zokuphefumla;
• definition of spirometry;
• iimvavanyo igazi iimvavanyo umsebenzi isibindi.

Izikhokelo zonyango

Emphysema Uxhokonxwa utshintsho vuhlayiseki. Ngoko ke, naluphi na unyango enokusebenziseka akuthethi ukubuyisela isakhiwo kwemiphunga okanye ukuphucula intsebenzo yabo, kodwa ukunqanda ukunwenwa kwesi sifo. Unyango lubiza kakhulu kwaye kucetyiswa kuphela kwizigulane non-ukutshaya abo abangaxhalabisiyo kakhulu ilungu kwekhono. Oku kuboniswa ukuba ukuba uhlalutyo antitrypsin Alpha-1 ngaphakathi komda omncinci.

ukutshaya Ukuyeka, ukusetyenziswa bronchodilators - amacandelo ezibalulekileyo unyango. unyango yokulinga usebenzisa phenylbutyric acid, nto leyo evumela ukuba ukuyilwa eyaphukileyo kweziyi kwi hepatocytes lisephantsi nophuhliso. Izigulane ezininzi ungaphantsi kweminyaka eyi-60, oogqirha zibonisa abohlukeneyo semiphunga. Ulwazi malunga iingenelo utyando nokunciphisa umthamo omzimba kunye emphysema ziyaphikisana kakhulu.

Unyango lwezifo zesibindi kufana nomqondiso. Ukwenziwa kwezilungiso enzyme uninzi macala kuphumelele, ekubeni esi sifo ebangelwe yinkqubo yezifo. Izigulane sisibindi eboniswe abohlukeneyo omzimba. Kuba unyango lwe panniculitis kusetyenziswa corticosteroids kunye tetracyclines.

Outlook

Yintoni ebilindelekile izigulane unesifo "ukuswela Alpha--antitrypsin 1"? Unyango kwesi sifo ibandakanya kuphela isiqabu imeko yesigulane. Ngokupheleleyo ukoyisa le ngezifo akwenzeki. I-ALS ixhomekeke iqondo umonakalo omzimba. Kwiimeko ingakumbi kakhulu, loo nto ezimbi. Abantu bayafa ngenxa emphysema okanye ukuqina.

Izazinzulu ezivela ehlabathini lonke kuqhubeka ukuphonononga ngenkuthalo esi sifo, khangela ukuba iyeza jikelele. Umzekelo, kwi-US kunye amanye amazwe aseYurophu, isigulana phambi kokuqalisa unyango lovavanyo wacela ukuya kunikezela uhlalutyo esiqinisekisa sifo. Alpha-1-antitrypsin, livela kwi plasma kubantu abasempilweni ngokupheleleyo, kuba ilawulwa yegazi. Unyango lwenziwa phezu amacebo eyenzelwe ngokukhethekileyo. inkqubo enjalo phindwa amaxesha amaninzi ngenyanga nganye. Le ndlela unyango eninzi kuqala. Ngaphezu koko, akukho ezifanelekileyo kwizigulane kunye ekubonakalisweni hepatic esi sifo, xa kwinkqubo zophendlo lwezifo ababandakanyekayo akukho lula. Kwiimeko ezinjalo, unyango kukususa iimpawu zokugula.

amanyathelo othintelo

Ezithile iindlela zokuthintela izifo, amayeza namhlanje ukuyenza. Oogqirha bacebisa ukuba abatshatileyo uceba ukukhawula umntwana, waya nemfuza thethwano. Oku kuyinyani ngakumbi ngabazali, omnye lowo sele unayo isakhi sinesiphene.

Ngamafuphi

Isifo luphawulwa kukungabikho protease yemiphunga kunye nokwanda kwi antitrypsin isibindi lwezidumbu, yinto enqabileyo kakhulu. Noko ke, nyaka ngamnye inani lezigulane iimpawu kwandisa ngokucacileyo. Ngelishwa, ukuthintela uphuhliso yayo akwenzeki.