I-DiGeorge syndrome: yintoni, imiqondiso kunye neempawu, isifo kunye nonyango

Umxholo

• Iimpawu eziphambili kunye neempawu
• Uxilongo lwenziwa njani
• Unyango lwe-DiGeorge syndrome

I-DiGeorge syndrome sisifo esinqabileyo esibangelwa sisiphene sokuzalwa kwi-thymus, amadlala e-parathyroid kunye ne-aorta, enokufunyanwa ngexesha lokukhulelwa. Kuxhomekeka kwinqanaba lokukhula kwesifo, ugqirha unokuluhlela njengenxalenye, epheleleyo okanye edlulayo.

Esi sifo sibonakaliswa lutshintsho engalweni ende ye-chromosome 22, ekubeni, ke, sisifo semfuza nesineempawu kunye neempawu ezinokwahluka ngokuhambelana nomntwana, ngomlomo omncinci, inkalakahla ecandekileyo, ukungalunganga kunye nokuncipha kokuva, umzekelo. Kubalulekile ukuba isifo senziwe kwaye unyango luqale kwangoko ukunciphisa umngcipheko weengxaki zomntwana.

Iimpawu eziphambili kunye neempawu

Abantwana abasiphuhlisi esi sifo ngendlela efanayo, kuba iimpawu ziyahluka ngokwenguqu yemfuza. Nangona kunjalo, iimpawu eziphambili kunye neempawu zomntwana onesifo se-DiGeorge zezi:

• Ulusu oluhlaza;
• Iindlebe zisezantsi kunesiqhelo;
• Umlomo omncinci, omile njengomlomo wentlanzi;
• Ukulibaziseka kokukhula nophuhliso;
• Ukukhubazeka kwengqondo;
• Ubunzima bokufunda;
• Utshintsho lwentliziyo;
• Iingxaki ezinxulumene nokutya;
• Amandla aphantsi amajoni omzimba;
• Inkalakahla ecwengileyo;
• Ukungabikho kwe-thymus kunye neengqungquthela ze-parathyroid kwiimviwo ze-ultrasound;
• Ukungalungi emehlweni;
• Ukungeva okanye ukungeva kakuhle;
• Ukuvela kweengxaki zentliziyo.

Ukongeza, kwezinye iimeko, esi sifo sinokubangela neengxaki zokuphefumla, ubunzima bokufumana ubunzima, intetho ebambezelekileyo, ukungqubana kwezihlunu okanye usulelo oluqhelekileyo, njenge-tonsillitis okanye inyumoniya, umzekelo.

Uninzi lwezi mpawu lubonakala kwakamsinya emva kokuzalwa, kodwa kwabanye abantwana iimpawu zinokuvela kuphela kwiminyaka embalwa kamva, ngakumbi ukuba utshintsho kwimfuza luthambile. Ke, ukuba abazali, ootitshala okanye amalungu osapho achonga naziphi na iimpawu, qhagamshelana nodokotela wabantwana onokuqinisekisa isifo.

Uxilongo lwenziwa njani

Ngokwesiqhelo isifo seDiGeorge syndrome senziwa ngugqirha wezilwanyana ngokujonga iimpawu zesifo. Ke, ukuba ubona kufanelekile, ugqirha unoku-odola kuvavanyo lokuchonga ukuba ngaba kukho uguquko oluqhelekileyo lwentliziyo yesifo.

Nangona kunjalo, ukuze kwenziwe uxilongo oluchanekileyo, uvavanyo lwegazi, olubizwa ngokuba yi-cytogenetics, lunokuyalelwa, apho kubakho utshintsho kwi-chromosome 22, ejongene nokuqala kwesifo seDiGeorge.Qonda ukuba lwenziwa njani uvavanyo lwecytogenetics.

Unyango lwe-DiGeorge syndrome

Unyango lwe-DiGeorge's syndrome luqala kwangoko emva kokuxilongwa, okuhlala kwenzeka kwiintsuku zokuqala zobomi bosana, usesibhedlele. Unyango luhlala lubandakanya ukomeleza amajoni omzimba kunye namanqanaba e-calcium, kuba olu tshintsho lunokukhokelela kusulelo okanye ezinye iimeko ezinzulu zempilo.

Olunye ukhetho lunokubandakanya utyando ukulungisa inkalakahla yokusetyenziswa kunye nokusetyenziswa kwamayeza entliziyo, kuxhomekeke kutshintsho olwenziwe kusana. Alukabikho unyango lweDiGeorge syndrome, kodwa kukholelwa ukuba ukusetyenziswa kweeseli ezisa siswini kuyasinyanga isifo.