Rashi na alpha-1-antitrypsin: cututtuka, Yanã, bincike da kuma magance

Rashi na alpha-1-antitrypsin - wata cuta daga cikin m yanayi, daukar kwayar cutar a cikin kwayoyin matakin, tare da ganewa na yaro. Alamun fara bayyana a farkon zamanin baby ta rayuwa. Tare da na asibiti da ãyõyinMu suna samun mafi bambancin, da kuma haƙuri da yanayin hankali worsens a kan lokaci. A mafi yawan marasa lafiya, likitoci gane asali na huhu nau'i na cutar. Kawai 12% na marasa lafiya da cututtuka na hanta nama. Modern magani ba shi da takamaiman wajen yi wa rashin lafiya. Saboda haka, babban gwargwado ya kamata a da nufin slowing cuta ci gaban.

Mene ne Alpha-1 antitrypsin?

Wannan gina jiki, wanda yake da alhakin samar da hanta Kwayoyin. Daga can, shi shiga cikin jini, sa'an nan hawa zuwa huhu. Me ya sa muke bukatar wannan furotin? Its main aiki ne don kare huhu nama daga lalacewa zuwa wasu nau'o'in sunadaran - enzymes. Wadannan abubuwa ne na wajibi ga al'ada aiki da kuma ci gaban da dukkan kwayoyin. Alal misali, proteases ne alhakin cire kwayoyin daga cikin huhu, taimaka wajen yaki da kamuwa da cuta. Lokacin da saki a cikin manyan yawa, sun kuma bayar da gudummawa ga kariya daga Alveoli daga daukan hotuna zuwa taba hayaki. The aiki na wadannan enzymes dole ne a adalci. A cikin taron sigogi da kara na huhu abubuwa fara ya narke. Alpha-1 antitrypsin ba ka damar daidaita da ayyuka na protease enzyme.

Ta yaya ne da kasawa?

A daya cell nucleus din ya ƙunshi kawai 46 chromosomes. Dukan su kasu kashi 23 nau'i-nau'i. A kowane biyu, daya chromosome gada daga mahaifinsa, da sauran - daga uwar. Yana da wani filamentary tsarin. Bi da bi, kowane gene kunshi wani takamaiman jerin deoxyribonucleic acid da kuma bautar wani takamaiman wuri a cikin chromosome. Yana kuma iko da takamaiman aiki ko yi nasu aikin a cikin jiki. DNA Forms mutum kayyade abu.

Insufficiency Alpha-1-antitrypsin gene yana tare da lalacewa da chromosome №14. Idan for kwafi na gina jiki da aka ba samar a cikin bukata yawa, an kafa gaira. Wannan abu da aka ajiye a cikin hanta da kuma ba ya shiga cikin huhu nama. Irin wannan take hakkin entails lalacewar da Alveoli da emphysema ci gaba. Saura gina jiki a cikin hanta facilitates da samuwar tabo nama. A sakamakon tasowa hanta gazawar.

cuta watsa inji

Da farko pathologies halin da rashin alpha-1-antitrypsin, aka bayyana a cikin shekarar 1963 da Danish likita da Wall Erickson. Yau an kamu sosai da wuya. Duk da haka, yawan marasa lafiya qara a wani geometrical ci gaban. Me ya sa? Duk da kwayoyin halitta a cikin kwayoyin halitta na cututtuka. Cutar da aka gada a lokacin da iyaye biyu gudanar da mahaukaci gene. Bisa kididdigar da, game da 1 mutum 25, irin wannan aibi ne kamu. Idan biyu abokan na akasin jima'i da wani m gene shirya yin ciki yaro, da wani babban Yiwuwar haske zai zama wani m yaro. Don kwanan wata, domin kowane 5000 mutane akwai daya kawai da ci gaban cikakken asibiti hoto. Kamar 'yan shekarun da suka gabata da suka wuce, wadannan Figures a sau kasa. 20 dubu mutane gana da daya kawai m gene. Wadannan lissafi sun nuna cikakken har na yaduwa pathologies.

Alamun da kuma ãyõyinSa da cutar farko

The asibiti hoto na pathological tsari ne sun fi mayar da m ta da siffar da har na rauni. Domin mafi yawan mutane, da bayyanar cututtuka ba bayyana kansu ga shekarun da suka gabata. Others, a akasin wannan, Pathology progresses hanzari. Wannan tsari ne da imprinted yanayi haƙuri da rayuwa da kuma binsa hanyarsa ta rayuwa.

Na huhu bayyananen sun fi na kowa cututtuka. Club suka bayyana bayan shekaru 20. Marasa lafiya da suke bi zuwa lafiya salon, wannan bakin kofa an wuce da kusan sau 2 (40-45 shekaru). Da farko, akwai shortness na numfashi bayan zafin jiki. Yana hankali take kaiwa zuwa wani tabarbarewar numfashi tsari. Sa'an nan shiga tari. Wannan cutar da ake akai-akai halin da kumburi raunuka daga cikin manya na numfashi fili.

Rashi na alpha-1-antitrypsin a yara, ko kuma wajen da hanta cututtuka bayyana a farkon zamanin rayuwa. Sun bayyana kansu a cikin nau'i na hepatitis na unknown etiology, jaundice na fata. By 14-16 shekaru masu rinjaye na asibiti lokuta warware a cikin shugabanci na minimizing hanta cututtuka. A wasu daga cikin matasa ajiye wuccin nagging sha raɗaɗin a dama hypochondrium. A bayyanar hanta cututtuka a adult hadarin tasowa rikitarwa. A irin wannan tsarin da ake halin da scarring na sashin jiki nama, wanda baya kaiwa zuwa tsanani cirrhosis da mutuwar mutumin.

bambanci ganewar asali

Protein alpha-1-antitrypsin taka muhimmiyar rawa a cikin aiki na dukan kwayoyin. Ya maye ne tare da tsanani da rikitarwa, kuma wani lokacin take kaiwa zuwa mutuwar mutum. A ƙãra hadarin cutar sun hada da:

• shan taba da mutane tare da emphysema, ya bayyana a shekaru 45.
• marasa lafiya da panniculitis.
• ba smokers suka yi emphysema kamu bayan shekaru 45.
• jariri jariran tare da m jaundice da darajar hanta enzymes.
• Marasa lafiya da bronchiectasis da ba a sani ba etiology.

Domin bambanci ganewar asali da mãsu haƙuri dole ba jini ga alpha-1 antitrypsin. Idan bincike ya tabbatar da gina jiki rashi, kowane memba na iyali na haƙuri bukatar sha cikakken kiwon lafiya jarrabawa don gane da m gene. All sauran ayyukan bincikowa da nufin kayyade mataki na nama lalacewa. Lokaci-lokaci, kana bukatar da za a yi kariya ga:

• kimantawa rayuwar huhu girma da kuma numfashi kudi.
• definition of spirometry.
• jini gwaje-gwaje a kan hanta aiki gwaje-gwaje.

magani Jagororin

Emphysema tsokani komowar canje-canje. Saboda haka, wani aiyuka far ba mayar da huhu tsarin ko inganta su yi, amma zai iya dakatar da ci gaban da cutar. A lura shi ne quite tsada da kuma kawai shawarar ga maras shan taba marasa lafiya da suke da moderately m sashin jiki tabarbarewa. An nuna cewa idan bincike na da Alpha-1 antitrypsin ne a cikin ƙananan iyaka.

Quitting shan taba, da yin amfani da bronchodilators - muhimmanci aka gyara na far. Gwajin magani ta yin amfani da wani phenylbutyric acid, wanda damar su kusantar da karye samuwar sunadaran a cikin hepatocytes ne har yanzu a karkashin ci gaba. Mutane da yawa marasa lafiya, matasa, fiye da shekaru 60 da likitoci bayar da shawarar huhu dasawa. Bayani game da amfanin tiyata don rage jiki girma da emphysema ne sosai sabanin.

Jiyya na cutar hanta ne symptomatic. Canzawa daga enzymes a yawancin lokuta ne m, tun da cutar lalacewa ta hanyar da pathological tsari. Marasa lafiya da hanta gazawar nuna Gabar dasawa. Domin lura da panniculitis amfani corticosteroids da tetracyclines.

Outlook

Abin da ya sa ran a cikin marasa lafiya da ganewar asali "rashi na alpha-1-antitrypsin"? Jiyya da cutar ya shafi kawai taimako na haƙuri da yanayin. Gaba daya shawo kan wannan Pathology ba zai yiwu. A hangen nesa dogara a kan mataki na gaba lalacewa. A musamman tsanani lokuta, shi ne ya fi karfinsu. Mutane mutu daga emphysema ko cirrhosis.

Masana kimiyya daga ko'ina cikin duniya ta ci gaba da rayayye gano cutar, nemi a duniya magani. Alal misali, a cikin Amurka da kuma wasu kasashen Turai, da mãsu haƙuri kafin fara da gwaji magani miƙa wa mika bincike gaskatãwa cutar. Alpha-1-antitrypsin, samu daga jini na da cikakken lafiya mutane, shi ne gudanar intravenously. Jiyya ne da za'ayi a kan wani musamman tsara makirci. Irin wannan hanya an maimaita sau da yawa da watan. Wannan hanya na lura shi ne tsada da kuma proactive. Bugu da kari, shi ne ba su dace ga marasa lafiya da na hanta manifestations da cutar, a lokacin da a pathological aiwatar da hannu ba sauki. A irin haka ne, magani ne a cire bayyanar cututtuka na rashin lafiya.

m matakan

Specific cutar rigakafin hanyoyin, zamani magani iya bayar. Doctors bayar da shawarar cewa ma'aurata shirin yi ciki yaro, halartar shawara itatuwa aure. Wannan shi ne musamman gaskiya daga iyaye, daya daga wanda riga da m gene.

don takaita

A cutar halin rashin huhu protease da jari a cikin hanta pathological antitrypsin, shi ne mai gwada rare. Duk da haka, kowace shekara yawan marasa lafiya da cututtuka qara dabam dabam. Abin baƙin ciki, su hana ta ci gaba ba zai yiwu.