Di Dzhordzhi syndrome: Ubangela, Ukwelashwa

Izifo wamasosha omzimba aqala ukuba zihlolwe esanda kutholakala, njengoba lokhu isayensi ingenye encane kunawo wonke waba imithi. Nokho, ngenxa ukuthuthukiswa ngokushesha namuhla, zikhona bathole okuningi kulo mkhakha. Tifo letibangwa isimiso somzimba sokuzivikela ngokuthi immunodeficiency, okuyinto zihlukaniswe izilonda zamabanga aphansi naphezulu. Izibonelo pathologies enjalo Di Dzhordzhi kuyinto syndrome lapho kukhona ukuntula azalwa naso T-lymphocyte. Ngaphezu ukuntuleka izindlela zokuzivikela, lesi sifo livezwa kwezinso amaningi kwezitho izinhlelo kakade olubonakalayo kwesikhathi ezisanda kubelethwa, futhi kwezinye izimo - e utero.

izindlela zokuthuthukiswa isifo

Di Dzhordzhi syndrome libhekene hypoplasia ephelele noma olungaphelele thymus (thymus). Lesi sitho Itholakala ingaphakathi thoracic ezinganeni kuyadingeka ngoba ukwakheka kwamangqamuzana amasosha omzimba. Ngezinye sokuthomba thymus iqala ekuhlehleni ngobukhulu futhi aguqule zibe izicubu fat. Le nqubo evamile hhayi zokugula. Lesi sifo Di Dzhordzhi kuziwa ukungabi azalwa naso isitho noma ukungabi ukuthuthukiswa yayo (hypoplasia). Ngenxa yalokhu ukubulawa amasosha omzimba kukhona okonakele futhi musa ukwenza imisebenzi yabo. Ngaphezu kwalokho, lapho lesi sifo ngokuvamile ukuntuleka we nezindlala parathyroid, banesibopho calcium ne phosphorus umzimba. Mshini yentuthuko anomalies amasistimu ezihlukahlukene ezihlobene ne kahle intrauterine ukukhula retardation, okwenzeka ekukhulelweni ekuseni.

Di Dzhordzhi syndrome: kubangela zokugula

Okwamanje, ayikho incazelo ecacile yokuthi kungani kukhona aplasia we ndlala thymus. Ezimweni eziningi, lesi sifo kwenzeka isici zofuzo ku-chromosome 22, okuyinto ekulahlekelweni omunye amasayithi yayo. Kukholakala ukuthi ukuhlukumeza okunjalo kungenxa ufuzo, Nokho, lo mbono engakaze lawo. Ngaphezu kwalokho, isici ukuba sibe ne-chromosome 22 akuyona ebonwe zonke iziguli, kodwa u-80% amacala. Izizathu Di Dzhordzhi syndrome buhlobene futhi kahle umbungu fetus, okubangelwa pathologies atholakale unina. Zihlanganisa ayilibalanga ngesikhathi sokukhulelwa, izifo ezithathelwanayo (rubella, isimungumungwana, i-herpes), isifo sikashukela, okulimala ebuchosheni, njll Okunye izimbangela syndrome Di Dzhordzhi - .. Ingabe nokusetshenziswa kwezidakamizwa (utshwala, izidakamizwa), nokuchayeka kumakhemikhali e utero ukuthuthukiswa.

ukubonakaliswa Clinical of aplasia thymic

Lesi sifo kuba sobala kakade ezinsukwini zokuqala ekuphileni komntwana, ngoba ngaphezu omzimba ukuntula livezwa kombungu amaningi. Kuwa kukhona isifo senhliziyo, njengoba abanye kubo azivumelani ukuphila (tetralogy of Fallot). kwezinso yokuthuthuka kungangena noma uhlelo isitho, kodwa kaningi Di Dzhordzhi syndrome livezwa zimpawu ezilandelayo:

1. umuntu Ukuphazamiseka: wokwehla amathambo kogebhezi emhlathini, ububanzi-amehlo, hypoplasia izindlebe, "Gothic" ulwanga, "udebe emfantwini", nokunye ..
2. Anomalies yaleli pheshana zokuphefumula kanye kuqhoqhoqho.
3. Kombungu isimiso sezinzwa - yoma we- cortex cerebral futhi cerebellum. Ngenxa yalokho lezi ukwephula waphawula ukuphazamiseka Gait, paresis kanye nokukhubazeka, izinguquko sezinzwa. Ukubonakaliswa eyinhloko CNS anomalies kubhekwa retardation engqondo, okuyinto kuba olubonakalayo neminyaka yokuqala yokuphila kwengane.
4. Kombungu we wokugaya ukudla ipheshana stenosis futhi atresia.
5. Ngokuvamile abantu baphuka izinqulu sokugembula, kwandziswa kwelinani letikhungo iminwe noma izinzwane.
6. Anomalies yomzimba optic: strabismus, ngwengwzi iziyaluyalu semithambo.
7. Kombungu kohlelo urinary.

Abanaso bangabhekana kubonakaliswe singly noma kuhlanganiswe nomunye. Kwezinye izimo, azikho kwezinso zentuthuko, futhi Di Dzhordzhi sika syndrome yisimo ukuntula in izinqubo mzimba. Ukuntula T-lymphocyte kubonakala ukuthambekela ngoba izifo ezibangelwa amagciwane kanye ezibangelwa amagciwane, isimila izinqubo. Kulesi isifo, okuvela immunodeficiency, kunzima elwa namagciwane kanye therapy eqeda ukuvuvukala. Aplasia parathyroid nezindlala owabonakaliswa uthi convulsive.

Lezi zindlela zokuxilonga lesi sifo

Imiphumela yaloku kuhlola okungenhla elenziwe inhlanganisela zimpawu ezilandelayo: ezifweni okusezingeni eliphezulu ezifweni ezithathelwanayo, kwezinso zentuthuko kanye nokuquleka. Ngaphandle kwesibeletho assays ungase uphawule ukwehla kwenani lymphocyte bese wehlise calcium ezingeni. Ukuze uqinisekise uphethwe, kubalulekile ukuba afeze izifundo isimo somzimba sokuzivikela ezifweni. Kulokhu, kukhona izinguquko ezilandelayo: ukuwaphendula ukuba yokugoma kanye nezivivinyo emibi hypersensitivity kanye nenguquko lymphoblastic. Inombolo B-lymphocyte is akazange kwashintsha. Ekuhloleni amasosha omzimba yeselula izakhiwo waphawula ukunciphisa zabo, wehlise emsebenzini. On US thorax lwembula ukungabi noma ukwehla we parathyroid nezindlala thymus. Isakhiwo ucwaningo DNA ivumela ukuze ufunde mayelana izinguquko chromosome 22.

ukuphathwa isifo Syndrome Di kaGeorge

Pathology Ukwelashwa kuncike degree of ukuhlukumeza. In the engekho ephelele thymus kuboniswe kwezitho zomzimba. ukwelashwa Steel kudingekile malformation ezinzima kwezitho izinhlelo. Ngokuhamba ayinzima lesi sifo kanye nokuntuleka anomalies sína ebekiwe yokwelapha yesondlo. Izidakamizwa eyisiqalo immunostimulants. Kukho konke ukuphila kubalulekile ubuyise ukuntula calcium emzimbeni. Izifo ezithathelwanayo zisebenza ukwelashwa okunezimpawu: antibiotic, imithi elwa-viral. Ngaphezu imithi, ukugwema hypothermia, ukucindezeleka, nezinye izinto ezingezinhle.

Imiphumela aplasia ka-thymus

Syndrome Di Dzhordzhi kuyingozi ngoba ohilelekile eziningi izinkinga. Iziguli lesi sifo ekuthonyweni isimila izinqubo, ukutheleleka ezinzima. Syndrome is phetho njalo ukuthuthukisa iziyaluyalu sokuhlasela kwamasosha omzimba. Lokhu kungenxa yokuthi umzimba Uyabubona iziguli ngumnikazi amaseli I-ejenti lesinye isizwe, futhi iqala ukuba alwe nawo. Lokhu kuphumela izifo ezifana omzimba izicubu erythematosus, dermatomyositis, i-rheumatoid arthritis. Yezinkinga elandelayo kungavuka anomalies okunzima ukuthuthukiswa: retardation engqondo, ukukhubazeka kwamalungu omzimba, ubumpumputhe. Lapho iziyaluyalu convulsive angagcina nokuvaleka kwemigudu yokuphefumula ngenxa asphyxia.

Onalesi sifo yalesi sifo Di Dzhordzhi

Lapho kuhlangene ukuntula mzimba kanye zamehlo ebonakalayo Yekhanda ebusweni echayeke uphethwe: Di Dzhordzhi syndrome. Izithombe zabantu abaphethwe yilesi sifo bungabonakala izincwadi ekhethekile wezokwelapha. Nale inhlanganisela lezi zimpawu Izibikezelo ukuphila ngokuvamile ezingezinhle njengoba kwezinso zentuthuko ukuphakamisa ifomu okunzima isifo. Ngokuvamile, izingane sifo Di Dzhordzhi, musa iphila iminyaka engu-10 ngenxa okwenzeka izifo ezithathelwanayo ezinzima noma umdlavuza. Endabeni wamaphaphu ukugeleza, akukho kombungu futhi umhlahlo ezanele replacement therapy kungaba yinzuzo.

Prevention syndrome Di Dzhordzhi

zokuvimbela Specific yalesi sifo alikho. Ukuze uvimbele ukwephula ukuthuthukiswa embryonic umbungu, umama olindele umntwana kudingeka kukhawulwe izinto ezibangela ukucindezeleka, give up imikhuba emibi, kodwa futhi ukuze ingangenwa amagciwane izifo ezibangelwa amagciwane kanye ezibangelwa amagciwane. kwezinso yokuthuthuka kungatholakala ngesikhathi ultrasound okuhleliwe, okuyinto eyenziwa e senyanga yokukhulelwa ngamunye.