I-DiGeorge syndrome: siyini, izimpawu nezimpawu, ukuxilongwa nokwelashwa

-Delile

• Izimpawu nezimpawu eziyinhloko
• Ukuxilongwa kwenziwa kanjani
• Ukwelashwa kwe-DiGeorge syndrome

I-DiGeorge syndrome yisifo esingajwayelekile esibangelwa ukukhubazeka kokuzalwa ku-thymus, izindlala ze-parathyroid ne-aorta, ezingatholakala ngesikhathi sokukhulelwa. Ngokuya ngezinga lokuthuthuka kwesifo, udokotela angasihlukanisa njengengxenye, ephelele noma yesikhashana.

Lesi sifo sibonakala ngezinguquko engalweni ende ye-chromosome 22, ngakho-ke, yisifo sofuzo futhi izimpawu nezimpawu zaso zingahluka ngokuya ngengane, ngomlomo omncane, inkalakahla evulekile, ukungasebenzi kahle nokuncipha kokuzwa, isibonelo. kubalulekile ukuthi ukuxilongwa kwenziwe futhi ukwelashwa kuqale ngokushesha ukunciphisa ubungozi bezinkinga ezinganeni.

Izimpawu nezimpawu eziyinhloko

Izingane azihlakuleli lesi sifo ngendlela efanayo, ngoba izimpawu zingahluka ngokuya ngezinguquko zofuzo. Kodwa-ke, izimpawu eziyinhloko nezimpawu zengane ene-DiGeorge syndrome yilezi:

• Isikhumba se-Bluish;
• Izindlebe ziphansi kunokujwayelekile;
• Umlomo omncane, omiswe njengomlomo wenhlanzi;
• Ukubambezeleka kokukhula nentuthuko;
• Ukukhubazeka kwengqondo;
• Ubunzima bokufunda;
• Izinguquko zenhliziyo;
• Izinkinga ezihlobene nokudla;
• Amandla aphansi amasosha omzimba;
• Ulwanga olucwebile;
• Ukungabi khona kwe-thymus kanye nezindlala ze-parathyroid ezivivinyweni ze-ultrasound;
• Ukukhubazeka emehlweni;
• Ukungezwa noma ukulahlekelwa okukhulu kwezindlebe;
• Ukuvela kwezinkinga zenhliziyo.

Ngaphezu kwalokho, kwezinye izimo, le syndrome nayo ingadala izinkinga zokuphefumula, ubunzima bokuzuza isisindo, ukukhuluma okubambezelekile, ukuphazamiseka kwemisipha noma ukutheleleka okuvamile, njenge-tonsillitis noma i-pneumonia, isibonelo.

Eziningi zalezi zici zibonakala masinyane ngemuva kokuzalwa, kepha kwezinye izingane izimpawu zingabonakala eminyakeni embalwa nje kamuva, ikakhulukazi uma ukuguqulwa kofuzo kumnene kakhulu. Ngakho-ke, uma abazali, othisha noma amalungu omndeni bethola noma yiziphi izici, thintana nodokotela wezingane ongakuqinisekisa ukuxilongwa.

Ukuxilongwa kwenziwa kanjani

Imvamisa ukuxilongwa kwe-DiGeorge syndrome kwenziwa udokotela wezingane ngokubheka izici zesifo. Ngakho-ke, uma ekubona kunesidingo, udokotela anga-oda izivivinyo zokuxilonga ukuthola ukuthi kukhona yini ukuguqulwa kwenhliziyo okujwayelekile kwesifo.

Kodwa-ke, ukuze kwenziwe ukuxilongwa okulungile, ukuhlolwa kwegazi, okwaziwa njenge-cytogenetics, nakho kungalawulwa, lapho kutholakala khona ushintsho lwe-chromosome 22, olubhekele ukuqala kwe-DiGeorge syndrome.Qonda ukuthi ukuhlolwa kwe-cytogenetics kwenziwa kanjani.

Ukwelashwa kwe-DiGeorge syndrome

Ukwelashwa kwesifo sikaDiGeorge kuqala ngokushesha ngemuva kokuxilongwa, okuvame ukwenzeka ezinsukwini zokuqala zempilo yengane, kusesesibhedlela. Ukwelashwa kuvame ukufaka ukuqinisa amasosha omzimba namazinga e-calcium, ngoba lezi zinguquko zingaholela ezifweni noma kwezinye izimo zempilo ezimbi.

Okunye ongakhetha kukho kungafaka nokuhlinzwa ukuze kulungiswe ulwanga nolokusetshenziswa kwemithi yenhliziyo, kuya ngoshintsho olwenziwe enganeni. Alisekho ikhambi le-DiGeorge syndrome, kepha kunenkolelo yokuthi ukusetshenziswa kwamaseli ama-embryonic stem kungaselapha lesi sifo.