Izifo Bruton sika: etiology, izimbangela, izimpawu kanye nezici ukwelashwa

isifo esidluliselwa ngofuzo - it is a ezingavamile yesifo azalwa naso ukuthi Kunzima ukuqagela kusengaphambili. Bona kwenzeke ngisho ngesikhathi lapho kukhona kumiswa umbungu. Ngokuvamile, basuke basukile abazali, kodwa akusho ngaso sonke isikhathi kwenzeke. Kwezinye izimo, ukwephula zenzeka ezakhini zofuzo ngokwabo. Enye yalezi pathologies kubhekwa agammaglobulinemia X-ezixhunyiwe. Libhekisela immunodeficiency eyinhloko. muva Lesi sifo uwuvule Maphakathi nekhulu le-20. Ngakho-ke, it is bengayiqondi ngokugcwele odokotela. Kwenzeka kakhulu kuyaqabukela, kuphela abafana.

isifo Bruton sika: umlando

Lokhu zokugula okuhlobene X-exhumene chromosomal anomalies ngocansi ezakhini zofuzo. isifo Bruton sika libhekene kwezinso e amasosha omzimba humoral. Uphawu oyinhloko uwukwenza ezifweni yayo izinqubo ezithathelwanayo. Lapho kukhulunywa ngaye okokuqala-akhawunti 1952 lokhu egunjini lokuhlolwa kwezifo. Ngaleso sikhathi, i-American Usosayensi Bruton wafunda umlando ingane yokugula izikhathi ezingaphezu kuka-10 eminyakeni 4 ubudala. Phakathi izinqubo ezithathelwanayo seziye wahlangana nalona umfana septicemia, inyumoniya, meningitis, engenhla zokuphefumula ipheshana ukuvuvukala. Lapho ehlola izingane, kwatholakala ukuthi amasosha omzimba kulezi zifo bengekho. Ngamanye amazwi, ngemva amasosha omzimba awuzange waphawula izifo.

Kamuva, ngasekupheleni kwekhulu lama-20, X-exhumene agammaglobulinemia odokotela futhi. Ngo-1993, odokotela bakwazi ukukhomba ukuthi isakhi sofuzo esinephutha esibangela amasosha omzimba kahle.

Izimbangela agammaglobulinemia X-exhumene

Agammaglobulinemia (isifo Bruton sika) ngokuvamile omkhulu sitholwa njengefa. Isici ubhekwa trait esikhubazayo, ngakho ematfuba kokuba ingane nge zokugula 25%. Abathwali isakhi sofuzo asabekayo bangabesifazane. Lokhu kungenxa yokuthi yokuphambana itholakala-X chromosome. Noma kunjalo, lesi sifo idluliselwa kuphela ubulili besilisa. Isizathu esiyinhloko agammaglobulinemia kuyinto amaprotheni onesici, ingxenye esephepheni isakhi sofuzo i-tyrosine kinase. Ngaphezu kwalokho, isifo Bruton kungaba idiopathic. Lokhu kusho ukuthi imbangela ivela khona uhlala akucacile. Phakathi kwezici ingozi ezithinta ikhodi wengane zofuzo, ukwaba:

1. Ukuphuza ngokweqile nokudla izidakamizwa ngesikhathi sokukhulelwa.
2. uhlobo psycho-ngokomzwelo.
3. Ukuchayeka ionizing emisebeni.
4. ezizihluphayo Chemical (ukukhiqizwa elimazayo, imvelo okungekuhle).

Uyini pathogenesis zesifo?

Mechanism lesi sifo elihlobene ne amaprotheni engaphelele. Ngokuvamile, isakhi sofuzo esiyimbangela yalesi wekhodi tyrosine kinase ehilelekile kumiswa B-lymphocyte. Ziyakwazi ukubulawa amasosha omzimba ukuthi banesibopho ukuzivikela humoral. Ngenxa ngongakwazi ukukhokha izikweletu of tyrosine kinase B lymphocyte musa abavuthiwe ngokugcwele. Ngenxa yalokho, baba behluleka ukuveza immunoglobulin, ayisiza - amasosha omzimba. I pathogenesis we Bruton sifo ukuvimba ephelele ukuvikelwa humoral. Ngenxa yalokho, nabo izinto ezithwala izifo zingene amasosha omzimba umzimba nalokho kungukuthi kukhiqizwa. Isici esikhethekile sale sifo iwukuthi omzimba akwazi ukulwa negciwane, naphezu kokungabibikho B-lymphocyte. Umhlobo ukuhlukumeza yokuvikela humoral incike kobukhulu yokungafaneleki.

Izifo Bruton sika: izimpawu isifo

Pathology okokuqala yenza ngokwayo wazizwa isakhasa. Ngokuvamile, isifo kubonakala inyanga 3-4-th zokuphila. Lokhu zingachazwa ngezinqubo yokuthi ngalesi yobudala umzimba wengane kuphele ukuvikela amasosha omzimba kamama. Izimpawu zokuqala isifo kungaba ukuphendula ubuhlungu lokugoma ezilandelayo, ukuqubuka, izifo we ephezulu noma ephansi ipheshana zokuphefumula. Nokho, ibele ivikela umntwana kusukela izinqubo ukuvuvukala, kusukela ubisi lwebele has ukubunjwa yayo immunoglobulin, ayisiza.

Bruton isifo ububonisa ngeminyaka 4. Ngalesi sikhathi ingane eza mbeni nezinye izingane enkulisa. Phakathi izilonda ezithathelwanayo wabusa meningo, streptococci futhi microflora staphylococcal. Ngenxa yalokho, izingane zingavezwa nezilonda ubovu. Izifo eyayivame kakhulu zihlanganisa i-pneumonia, sinusitis, abezindaba otitis, sinusitis, meningitis, conjunctivitis. Ngezinye ukwelashwa kwesikhathi zonke lezi izinqubo ungaya e sepsis. Libuye ibonakalisa isifo kungenzeka Bruton zokugula dermatological. Ngenxa encishisiwe mzimba impendulo nezilwanyana ezincane ande ngokushesha endaweni amanxeba kanye imihuzuko.

Ngaphezu izenzo sifo zihlanganisa bronchiectasis - izinguquko sokugembula emaphashini. Izimpawu zihlanganisa iphika, ubuhlungu esifubeni, ngezinye izikhathi hemoptysis. Kungenzeka futhi ukuvela izilonda ukuvuvukala kule ngokweqile, izitho zokugaya, ngomgudu womchamo, nolwelwesi lwamafinyila. Ngezikhathi waphawula ukuvuvukala nokuba nesisa endleleni emalungeni.

Lezi zindlela zokuxilonga lesi sifo

Lezi zindlela lokuqala zokuxilonga kuzomele sifake kwesifo njalo. Izingane abaphethwe zokugula Bruton sika, baphathe ezingaphezu kwezingu-10 izifo ngonyaka, kanye izikhathi eziningana phakathi nenyanga. Izifo kungase kuphinde kushiwo abanye noma elinye (otitis abezindaba, namathansela, inyumoniya). On luhlolo, kukhona hypertrophy yokuntuleka pharyngeal idlala. Kuyefana nasendleleni palpation ka-peripheral zamanzi. Kufanele sinake ingane asabela emva yokugoma. Kuba nezinguquko eziphawulekayo babonakala e assays laboratory. I Kla izimpawu ukuvuvukala (kwenani labafana leukocyte yashesha ESR). Inani lamasosha kuyehla. Lokhu kubonakala ifomula leukocyte: inombolo encane lymphocyte futhi neutrophil anda okuqukethwe. ucwaningo olubalulekile kuyinto immunogram. Iveza zokunciphisa noma ukungabi khona amasosha omzimba. Lesi sici ikuvumela lokwenza ukuxilongwa. Uma udokotela ekungabaza, kungenzeka ukuba afeze ukuhlolwa kwezakhi zofuzo.

Umehluko Bruton sifo pathologies efanayo

Lokhu zokugula is umahluko kusuka kwamanye eyinhloko futhi immunodeficiencies yesibili. Phakathi kwabo - Okhahlamba uhlobo agammaglobulinemia, Di Dzhordzhi Syndrome, HIV. Ngokungafani lezi pathologies isifo Bruton sika libhekene kuphela ukuhlukumeza bangangenwa yilesi sifo humoral. Lokhu kuboniswa iqiniso lokuthi umzimba ikwazi ukulwa ejenti ezibangelwa amagciwane. Lokhu isici lihlukile Swiss uhlobo agammaglobulinemia, ohleshulelwe lapho kokubili impendulo humoral kanye neselula mzimba. Lokwenza ukuxilongwa umehluko sifo Di Dzhordzhi, okudingeka ukwenze esifubeni X-ray (thymic aplasia) futhi ukucacisa okuqukethwe i-calcium. Ukuze ususe HIV palpation olwenziwa ka lymph node, ELISA.

Izindlela nokwelashwa agammaglobulinemia

Ngeshwa, ukukunqoba ngokuphelele isifo Bruton sika akunakwenzeka. Izinqubo ze-zokwelapha zihlanganisa esikhundleni agammaglobulinemia nokwelulekwa lingaze. Injongo eyinhloko impumelelo ubhekwa amazinga evamile immunoglobulin, ayisiza egazini. Inani omzimba kufanele kube yilo ukuze 3 g / l. Ngenxa yale njongo, i-gamma globulin ngesilinganiso 400 mg esisindo / kg. Omzimba lokuhlushwa kufanele wanda phakathi izifo sibi ezithathelwanayo, njengoba umzimba awukwazi ukubhekana nabo ngokuzimela.

Ngaphezu ukuthi kwenziwe ukuphathwa lingaze. The njalo kunazo ebekiwe imithi elwa namagciwane "Ceftriaxone", "penicillin", "Ciprofloxacin". Lapho isikhumba ukubonakaliswa kudingeka ukwelashwa ngezihloko ezihlukene. Futhi kunconyiwe egeza mucosal izixazululo isinqandakuvunda (emphinjeni kanye neensetjenziswa acinene).

Onalesi sifo ngoba agammaglobulinemia Bruton sika

Naphezu umngane wokuphila replacement therapy, onalesi sifo okwesikhathi agammaglobulinemia evumayo. ukwelashwa okuqhubekayo kanye prophylaxis izinqubo ezithathelwanayo ukunciphisa abagulela ukufa lincane. Ngokuvamile, iziguli enamandla futhi ekhuthele. Ngezinye indlela engalungile ekwelashweni ingaqala yezinkinga kuze sepsis. Endabeni egijima izifo Izibikezelo abampofu.

Ukuvimbela agammaglobulinemia X-exhumene

Ephambi kwezinduna isifo izihlobo noma okusolwa ukuthi kudingekile ukuba afeze ukuhlolwa zofuzo ngisho ngesikhathi senyanga yokuqala sokukhulelwa. Futhi ukuba izinyathelo zokuvimbela kufanele kufake ukuchayeka emoyeni, ukungabi bikho kokukhanya izifo ezingamahlalakhona kanye nemiphumela elimazayo. Phakathi nenkathi yokukhulelwa, umama ukucindezeleka contraindicated. Ukuze zokuvimbela yesibili kukhona Vitamin yokwelapha, abaphathi ye-gamma globulin, indlela yokuphila enempilo. Kubalulekile futhi ukuba sizigweme kubantu abanaleli gciwane.