Isifo Bruton esithi: umyalezo, ebangela, iimpawu kunye neempawu unyango

isifo Genetic - loo nto sisifo naso kunqabile ukuba kunzima ukuqikelela kwangaphambili. Kwenzeka kude ngexesha xa kukho ukubunjwa mbungu. Amaninzi, ezidluliswayo kubazali, kodwa akusoloko kwenzeka. Kwezinye iimeko, ukunyhashwa kwenzeka zofuzo ngokwabo. Enye yezi ezimbi ithathwa ezinxulumene X-agammaglobulinemia. Libhekisela immunodeficiency ephambili. Kutsha nje sifo iye yavulwa kweli kwinkulungwane yama-20. Ngoko ke, oko akukaqondwa kakuhle ngoogqirha. Oku kwenzeka kunqabile kakhulu, kuphela amakhwenkwe.

isifo Bruton esithi: imbali

Le pathology ehlobene enxulumene X-mgceni chromosomal ezosulela kwinqanaba yemfuza. isifo Bruton kaThixo luphawulwa ezingaqhelekanga xa nezifo humoral. Uphawu iphambili susceptibility yayo neenkqubo ezosulelayo. Sisihlandlo sokuqala akhawunti-1952 kule ngezifo. Ngelo xesha, i-American Isazinzulu Bruton wafunda imbali womntwana yokugula izihlandlo ezingaphezu kwama-10 kule minyaka-4 ubudala. Phakathi iinkqubo ezosulelayo wadibana le nkwenkwe septicemia, inyumoniya, i-meningitis, ephezulu nokuphefumla isiqephu komtshiso oko. Xa ehlola abantwana, kwafunyaniswa ukuba antibodies ezi zifo abangekhoyo. Ngamanye amazwi, emva kokuba omzimba ayizange izifo ulandelwe.

Kamva, kwinkulungwane yama-20 emva kwexesha, X-ezinxulumene agammaglobulinemia oogqirha zivavanywa kwakhona. Ngowe-1993, oogqirha bakwazi ukuchonga isakhi zonakeleyo ebangela nezifo kakuhle.

Oonobangela enxulumene X-agammaglobulinemia

Agammaglobulinemia (isifo Bruton i-) kangangokuba ilifa. Isiphako ithathwa uphawu sofuzo, ngoko ke amathuba okufumana umntwana ngezifo yi-25%. Abathwali sofuzo njengesi ngamabhinqa. Oku kungenxa yokuba i-isiphene yenzelwe kwi X chromosome. Noko ke, esi sifo sisasazwa kuphela besini eyindoda. Esona sizathu agammaglobulinemia na iproteni sinesiphene, inxalenye iikhowudi sofuzo for tyrosine kinase. Ukongeza, isifo i Bruton bangena idiopathic. Oku kuthetha ukuba unobangela livela akukacaci. Phakathi ubungozi ezichaphazela ikhowudi lo mntwana yemfuza, bekela:

1. Ukuxhatshazwa kotywala kunye neziyobisi ngexesha lokukhulelwa.
2. uhlobo yengqondo-iimvakalelo.
3. Ukwazi ionizing kwimitha.
4. Into etyabulayo Chemical (imveliso eyonakalisayo, okusingqongileyo ezimbi).

Yintoni na ke Pathogenesis esi sifo?

Indlela kwesi sifo ezinxulumene kwiproteni alusebenzi. Ngokwesiqhelo, le sofuzo ukuba encoding tyrosine kinase, ebandakanyekileyo xa ukuyilwa B-lymphocyte. Bona omzimba ukuba elijongene nezokhuselo humoral. Ngenxa amatyala lymphocyte tyrosine kinase B yona ayivuthwa ngokupheleleyo. Ngenxa yoko, ukuba abakwazi ukuvelisa immunoglobulins - antibodies. Le Pathogenesis kwesi sifo Bruton na uvimba ngokupheleleyo yokhuseleko humoral. Ngenxa yoko, ndadibana arhente ezisulelayo kwi omzimba umzimba apho akubangelwa. A phawu olulodwa kwesi sifo kukuba amajoni omzimba akwazi ukulwa intsholongwane, nangona kungekho B-lymphocyte. Uhlobo nokuhluthwa ukhuselo humoral ixhomekeke ebukhulwini engasebenzi.

Isifo Bruton esithi: iimpawu zesifo

Pathology okokuqala uzenza waziva ngayo ebuntwaneni. Amaninzi, esi sifo esizibonakalisa ngenyanga 3-4-th zobomi. Oku kungenxa yokuba kule ubudala umzimba umntwana ayeke ukukhusela izilwa sikanina. Iimpawu zokuqala sifo kuba basabela buhlungu ugonyo ilandelayo, irhashalala, usulelo lwe iphecana oluphezulu okanye olusezansti zemiphunga. Noko ke, ibele sikhusela usana evela kwiinkqubo ukudumba, ekubeni ubisi lwebele anayo kumafa zalo immunoglobulins.

isifo Bruton ubonisa ngeminyaka malunga 4. Ngeli xesha umntwana uza ukudibana nabanye abantwana abancinane. Phakathi izilonda ezosulelayo alawule meningo, streptococci kunye microflora staphylococcal. Ngenxa yoko, abantwana ukuba lungakhuseleki komtshiso ubovu. Sezifo rhoqo ziquka inyumoniya, sinusitis, amajelo otitis, sinusitis, meningitis, conjunctivitis. Xa unyango mbilini zonke ezi nkqubo aphambukele nokudumba. Kwakhona ibonakalisa sifo Bruton ngezifo dermatological. Ngenxa imadlana microorganisms omzimba phinda ngokukhawuleza kwisiza amanxeba kunye imikrwelo.

Ukongeza kule ezibonisa sifo zibandakanya bronchiectasis - utshintsho zophendlo lwezifo emiphungeni. Impawu ziquka ukuphelelwa umoya, iintlungu esifubeni, maxa wambi hemoptysis. Kwakhona kuyenzeka ukuvela izitshanguba ukudumba kwi izitho zokugaya, womchamo, inwebu yangaphakathi. Ngamaxesha athile wabona ukufukuka nanobubele kwamalunga.

Indlela zokuxilonga ukuba isifo

Indlela yokuqala diagnostic kufuneka iquke izehlo rhoqo. Abantwana abaphethwe ngezifo Bruton kaThixo, athwale zizifo ngaphezu kwe-10 ngonyaka ngamnye, ngokunjalo izihlandlo eziliqela ebudeni nyanga. Izifo ukuze lizakuphindwa okanye enye (otitis eendaba, tonsils, pneumonia). Ngosuku loviwo, kukho hypertrophy ukungabikho pharyngeal idlala. Kukwasebenza kwanjalo kuyo Ngokucofa ezalathelwe nkovu yoluvo. Kufuneka kwakhona sinikele ingqalelo koko usana emva kogonyo. lutshintsho lungako iqatshelwe zePCR elebhu. I kla iimpawu ukudumba (ukunyuka kwenani leukocytes okukhawulezayo ESR). Inani omzimba lifinyele. Oku kuboniswa kule formula leukocyte: inani elincinane lymphocyte kunye neutrophils anda umxholo. zophando ezibalulekileyo i immunogram. Oku kubonisa ukuncitshiswa okanye ukungabikho omzimba. Olu phawu likuvumela ukuba wenze isifo. Ukuba ugqirha uthandabuzayo, ukuba unako ukwenza uvavanyo yemfuza.

Iiyantlukwano sifo Bruton evela ezimbi ezifanayo

Le ngezifo liza kwahlulwa kwezinye zaseprayimari immunodeficiencies eziziisekondari. Phakathi kwabo - uhlobo agammaglobulinemia Swiss, syndrome Di Dzhordzhi kaThixo, HIV. Ngokwahlukileyo kwezi ezimbi izifo Bruton kaThixo iphawulwa kuphela kophulwa sifo humoral. Oku kubonakaliswa into yokuba umzimba nako ukulwa arhente wentsholongwane egazini. Le into eyahlukileyo ukusuka Swiss uhlobo agammaglobulinemia, yasiqhekeza xa bobabini humoral kanye neselula omzimba. Ukwenza isifo mahluko kunye syndrome Di Dzhordzhi, kufuneka wenze esifubeni X-reyi (thymic aplasia) yaye zijongisise isiqulatho calcium. Ukuze ngaphandle HIV Ngokucofa kuqhutywa ngayo iindawo nkovu, ELISA.

Iindlela zonyango lwe agammaglobulinemia

Ngelishwa, zokoyisa ngokupheleleyo isifo Bruton kaThixo akunakwenzeka. Iindlela zonyango ziquka replacement agammaglobulinemia kunye nonyango nomqondiso. Eyona njongo ephambili yale mpumelelo luthathwa amanqanaba eqhelekileyo immunoglobulins egazini. Isixa omzimba kufuneka yilo ku-3 g / l. Ukulungiselela le njongo, igamma globulin izinga 400 mg / ubunzima bomzimba kg. Lomzimba xi kufuneka kwandiswe ngexesha izifo ezihlasela zosulele ezosulelayo, njengoko umzimba ungakwazi ukumelana nazo ngokuzimeleyo.

Ukongeza eyenziwa unyango nomqondiso. I-antibiotics emiselweyo qho "Ceftriaxone", "penicillin", "ciprofloxacin". Xa obubonakala isikhumba kufuneka unyango mlonyeni. Kwakhona kucetyiswa wokuhlamba mucosal magciwane (emqaleni nonkcenkceshelo ngeempumlo).

I-ALS for agammaglobulinemia Bruton kaThixo

Nangona therapy replacement ubomi, i-ALS ukuba agammaglobulinemia kakuhle. unyango oluqhubekayo kunye prophylaxis lweenkqubo ezasulelayo ukunciphisa lezifo kuncitshiswe. Ngokuqhelekileyo, izigulane bayakwazi-eyomeleleyo kunye esebenzayo. Ekusondeleni engalunganga kunyango nga ukuphuhlisa ezinobuzaza de nokudumba. Kwimeko ukubaleka usulelo abane amahlwempu.

Uthintelo enxulumene X-agammaglobulinemia

Xa kukho isifo emizalwaneni okanye ekurhanelwa ukuba kuyimfuneko ukuqhuba uvavanyo yemfuza nkqu ngexesha ekhulelwe yokukhulelwa. Kwakhona amanyathelo azizithintelo kufuneka iquke sesichengeni emoyeni, ukungabikho lwezifo ezingapheliyo kunye neziphumo eziyingozi. Ngexa lokukhulelwa, unina ntshikilelo contraindicated. Kuba Uthintelo zasesekondari vitamin unyango, ulawulo igamma globulin, indlela yokuphila esempilweni. Kubalulekile kwakhona ukuba musa ukudibanisa abantu abosulelekileyo.