Di Dzhordzhi syndrome: Ubangela, Treatment

Izifo amajoni omzimba baqalisa ukuba zihlolisiswe kutshanje, njengoko le inzululwazi yenye yomncinane amayeza. Nangona kunjalo, ngenxa luphuhliso olukhawulezayo namhlanje, zininzi izinto ezifunyaniswe kulo mhlaba. Izifo kwinkqubo yokhuselo omzimba ekuthiwa immunodeficiency, leyo zahlulwe izilonda eziziprayimari nezizisekondari. Imizekelo ezimbi ezinjalo Di Dzhordzhi kukho sifo apho kukho intswelo naso ka-T-lymphocyte. Ukongeza yokunqongophala iindlela zokuzikhusela, esi sifo kuboniswa ukungaqheleki ezininzi amalungu kunye neenkqubo sele olubonakalayo kwixesha lweentsana, kwaye kwezinye iimeko - Esibelekweni.

iindlela zophuhliso izifo

Di Dzhordzhi syndrome luphawulwa hypoplasia olupheleleyo okanye olungaphelelanga thymus (thymus). Eli lungu ibekwe em- thoracic ebantwaneni yaye kuyimfuneko lokusekwa omzimba cellular. Ngexesha lokufikisa, thymus uqalisa zinciphise ngokobungakanani akuguquki izihlunu ngamanqatha. Le nkqubo eliqhelekileyo, yaye kungabi a ngezifo. Le syndrome Di Dzhordzhi kufikwa ukungabikho naso welungu okanye ukungabikho wophuhliso lwawo (hypoplasia). Ngenxa yale omzimba zonakeleyo musa ukwenza imisebenzi yazo. Ngaphezu koko, xa isifo badla ukungabikho kwamadlala parathyroid, banoxanduva calcium phosphorus ukutya. Indlela yophuhliso mgceni lweenkqubo ezahlukeneyo ezinxulumene ne kakuhle intrauterine abazizidalwa ngokukhula, ivela ngathi ekukhulelweni ekuqaleni.

Di Dzhordzhi syndrome: ebangela ngezifo

Okwangoku, akukho ingcaciso ecace gca kutheni kukho aplasia le ingaba thymus. Kwiimeko ezininzi, esi sifo kwenzeka kule isiphene yemfuza kwi chromosome 22, nto leyo ukulahleka omnye sites yayo. Kukholelwa ukuba kophulwa onjalo ngenxa yofuzo, Noko ke, le mbono uye wazibonakalisa hayi. Ukongeza, unesiphene chromosome 22 anayenza kuzo zonke izigulane, kodwa kuphela ngo-80% yamatyala. Izizathu Di Dzhordzhi syndrome kukwanxulunyaniswa umbungu kakuhle ezingekazalwa, okubangelwa ezimbi ezikhoyo kunina. Ezi ziquka senziwa ngexesha lokukhulelwa, izifo ezosulelayo (rubella, imasisi, herpes), isifo seswekile, ukwenzakala ebuchotsheni njalo D. Ezinye ebangela le syndrome di Giorgio -. Abe gwenxa kweziyobisi (utywala, iziyobisi), kunye nokuqhelana imichiza Esibelekweni uphuhliso.

obubonakala kwezonyango aplasia thymic

Isifo silubona sele ngemihla yokuqala yobomi sana, kuba ukongezelela deficiency amajoni omzimba kuboniswa malformations ezininzi. Eyona ngxaki yokuwa na isifo sentliziyo, njengoko abathile kubo ayi hambelani ngobomi (tetralogy of Fallot). ukungaqheleki Developmental zingachaphazela naliphi omzimba, kodwa kaninzi Di Dzhordzhi syndrome Ubonakala mpawu zilandelayo:

1. umntu ongeva: ukuncitshiswa ngamathambo lukakayi, umhlathi, ububanzi-amehlo, hypoplasia iindlebe, "Gothic" inkalakahla, "iindevu zicandeke izihlambo", njalo-njalo ..
2. Mgaqweni ye iphecana bokuphefumla kuvuleke iminxunya.
3. Malformations e-nervous system - yoma le neuron kunye kwiCerebellum. Ngenxa yezi iintshukumo zokwaphulwa kwemithetho waphawula iqinelwa nasiphazamiso, paresis kunye nokukhubazeka, utshintsho yovakalelo. Nokubonakaliswa ephambili CNS mgaqweni kuthathwa ukukhubazeka engqondweni, nto leyo iba ephawuleka kule minyaka yokuqala yobomi bomntwana.
4. Malformations ye stenosis lokugaya kunye atresia.
5. iintanda yezifo, ukwandisa inani ngeminwe okanye neenzwane.
6. Mgaqweni zomzimba optic: strabismus, ukuphazamiseka semehlo nemithambo.
7. Malformations yenkqubo womchamo.

Le disorder uboniswe zibangele okanye idityaniswe nenye. Kwezinye iimeko, akukho makhwiniba zophuhliso, kunye Di Dzhordzhi kaThixo syndrome i ukuhluleka iindlela wokugonyeka. Ukuswela T-lymphocyte lubonakala notyekelo ngenxa kwezifo kunye wentsholongwane egazini, iinkqubo ithumba. Kule sifo, evela immunodeficiency, kunzima ukuba antibacterial kunye nonyango anti-ukudumba. amadlala Aplasia parathyroid kubonakaliswa lwamazwe convulsive.

Indlela zokuxilonga ukuba isifo

Uxilongo wenziwa ngokudibanisa ezi mpawu zilandelayo: susceptibility phezulu kwizifo ezosulelayo, ukungaqheleki zophuhliso nokuxutha izinto. -In vitro zePCR ukuze uqaphele lancipha inani lymphocyte kwaye zinciphisa kwinqanaba calcium. Ukuze uqinisekise uxilongo, kuyimfuneko ukwenza izifundo yemeko omzimba. Kulo mzekelo, kukho utshintsho zilandelayo: ukungabikho mpendulo nogonyo kunye neemvavanyo zingentle ngokumalunga hypersensitivity kunye nenguqu lymphoblastic. Inani B-lymphocyte ingaguqulwa. Xa isifundo kwezakhiwo okukwazi yeselula waphawula zokunciphisa zabo, ukunciphisa kumsebenzi. On US Isifuba kutyhilwa ukungabikho okanye ukwehla kule parathyroid kunye namadlala thymus. Ubume zophando DNA ivumela ukuba bafunde utshintsho phambi kokusebenza chromosome-22.

unyango lwesifo Syndrome Di-George

Pathology Treatment kuxhomekeke iqondo ukuhlukunyezwa. Xa engekho ngokupheleleyo thymus eboniswe abohlukeneyo omzimba. unyango Surgical kuyimfuneko malformation kakhulu ngayo amalungu kunye neenkqubo. Xa indlela lula sesi sifo kunye nokungabikho mgaqweni ezinzulu emiselweyo unyango yesondlo. Amachiza ngqangi immunostimulants. Kubo bonke ubomi kuyimfuneko makasizalise ukuswela icalcium emzimbeni. Izifo ezosulelayo ukusebenzisa unyango kwangumqondiso: nemithi, amayeza anti-wentsholongwane egazini. Ukongezelela amayeza, ukuphepha emzimbeni, uxinezeleko, kunye nezinye izinto ezingalunganga.

Iziphumo aplasia le thymus

Syndrome Di Dzhordzhi kuyingozi kuba ubhaptizo ezininzi iingxaki. Izigulane ngale sifo sifo kwiinkqubo ithumba, usuleleko kakhulu. Syndrome i yoko rhoqo kuphuhliso ukuphazamiseka sokuhlasela. Oku kubangelwa yinto yokuba umzimba Uyabubona izigulane ezizezakhe iiseli ze-arhente zangaphandle, kwaye iqalisa ukuba alwe nawo. Oku kubangela izifo ezifana lupus zomzimba systemic, dermatomyositis, isifo samathambo. Iingxaki zilandelayo angenzeka mgaqweni kakhulu kuphuhliso: ukukhubazeka engqondweni, ukukhubazeka kwamalungu omzimba, ukungaboni. Xa izifo convulsive basenokuba ukusilela yokuphefumla ngenxa zizalwa.

I-ALS le syndrome Di Dzhordzhi

Xa zidityaniswe intswelo omzimba kunye neziphene obubonakalayo yokakayi yobuso usekuhleni sifo: Di Dzhordzhi syndrome. Izithombe zabantu abanengxaki kwesi sifo kubonwa kule ncwadi zonyango ezizodwa. Nale indibanisela yezi mpawu ALS ubomi elingamncediyo ngokubanzi nje ukungaqheleki yophuhliso ibonisa uhlobo kakhulu sifo. Ngokuqhelekileyo, abantwana kunye syndrome Di Dzhordzhi, musa kuphila ukuya kwiminyaka-10 ngenxa bezifo kakhulu esosulelayo okanye umhlaza. Kwimeko yokumpompoza lung, akukho malformations kunye zemo ngokwaneleyo therapy replacement inokuba yingenelo.

Prevention syndrome Di Dzhordzhi

Uthintelo engqalileyo yale sifo ayikho. Ukuze kuthintelwe ukunyhashwa uphuhliso osandul yosana olungekazalwa, umama olindele kufuneka anciphise le miba, nika imikhuba emibi, kodwa ukuthintela usuleleko lwezifo yintsholongwane kunye wentsholongwane egazini. ukungaqheleki Developmental kungabonwa kwindawo ultrasound amaxesha, nto leyo oluqhutywa ezintathu ngasinye lokukhulelwa.