Ngaba umntwana wakho omncinci unengxaki yempilo engaphezu kwesinye? Mhlawumbi uqaphele ingxaki yentliziyo, izifo ezixhaphakileyo, okanye ukulibaziseka kokukhula. Uninzi lwezi ngxaki zibonakala zingahambelani zinokuba nesizathu esinye. Leyo yimeko yemfuza esiza kuthetha ngayo namhlanje. Ibizwa ngokuba yiDiGeorge Syndrome.
Ngamafutshane, yintoni iDiGeorge Syndrome?
Esi sisifo semfuza . Imizimba yethu yenziwe ngeeseli. Iseli nganye inento ebizwa ngokuba ziichromosomes. Cinga ngezi njengeencwadi ezinkulu ezibhala indlela yonke into emzimbeni wethu eyenziwe ngayo. Ngoko ke, le meko yenzeka xa iqhekeza elincinci, njengephepha, lale ncwadi ebizwa ngokuba yichromosome 22 lingekho. Ukuchaneka, oku kukwabizwa ngokuba yi -22q11.2 deletion syndrome . Oko kuthetha ukuba inxalenye ebizwa ngokuba yi-11.2 engalweni ende ebizwa ngokuba yi-'q' yechromosome 22 ayikho.
Xa le nxalenye incinci yejini ingekho, ichaphazela ukukhula nokusebenza kwamalungu amaninzi omzimba womntwana. Abanye abantwana abachaphazeleki kangako , ngelixa abanye banokuchaphazeleka ngakumbi. Iyahluka ukusuka kumntwana ukuya komnye. Nangona kungekho nyango lupheleleyo loku, singalawula iimpawu size sincede umntwana aphile ubomi obuhle.
Ziziphi iimpawu ezibonakala kule meko?
Ayingabo bonke abantwana abanale meko abafanayo. Abanye abantwana basenokungabonakalisi zimpawu kwaphela. Abanye banokubonakalisa iimpawu ezichaphazela amalungu aliqela omzimba. Makhe sijonge iingxaki eziphambili ezibonwayo.
| Inkqubo yomzimba ichaphazelekile | Iimpawu ezinokubonwa |
|---|---|
| Iingxaki zeNtliziyo |
|
| Inkqubo yokuzikhusela komzimba (Ukunqongophala komzimba) | |
| Iimpawu zoBuso ezaHlukileyo | |
| Uphuhliso lobuchopho nokufunda (Iingxaki zokuqonda) | |
| Ezinye Iimpawu kunye neempawu |
|
Kutheni oku kusenzeka emntwaneni? Yintoni isizathu?
Njengoko besixoxile ngaphambili, oku kubangelwa kukulahleka kweqhekeza elincinci le-chromosome 22. Kukho izizathu ezibini eziphambili zokuba oku kwenzeke.
1. Isiganeko esingacwangciswanga: Esi sesona sixhaphakileyo (9 kwi-10) . Xa umntwana ekhulelwa, oko kukuthi, okokuqala xa iqanda likamama kunye nesidoda sikatata zidibana, esi siqwenga sechromosome sinokulahleka ngengozi. Le yinto eyenzeka ngokungacwangciswanga.
2. Ilifa elivela kubazali: Inqabile kakhulu (malunga ne-1 kwi-10)Umntwana angayifumana le meko kumama okanye kutata onayo. Ifunyanwa ngendlela ethi "autosomal dominant". Oku kuthetha ukuba nokuba omnye wabazali unale meko, umntwana usenokuyifumana.
Eyona nto ibalulekileyo yile. Uninzi lwexesha, oku kwenzeka ngequbuliso, ngoko ke musa ukuziva kakubi, ucinga ukuba kungenxa yayo nantoni na oyenzileyo okanye ongayenzanga ngexesha lokukhulelwa kwakho. Oku akulona ityala lakho konke konke.
Oogqirha bayifumana njani le nto?
Ngamanye amaxesha, uvavanyo lwangaphambi kokukhulelwa lunokubonelela ngeenkcukacha malunga nale meko. Umzekelo, inokubonwa ngexesha le-ultrasound yangaphambi kokukhulelwa okanye uvavanyo olukhethekileyo olufana ne-amniocentesis.
Nangona kunjalo, uninzi lwexesha, oku kuchongwa kuphela emva kokuba umntwana ezelwe. Xa ugqirha ehlola umntwana, unokukrokrela oku ngokubona iimpawu ezikhethekileyo ebusweni nasezindlebeni zomntwana. Emva koko, kwenziwa uvavanyo oluninzi ukuqinisekisa ukukrokrela.
Uvavanyo loku
- I-Echocardiogram: Iskeni yokujonga umsebenzi kunye nolwakhiwo lwentliziyo.
- Uvavanyo lwegazi: Oku kuquka ukujonga inqanaba le-calcium egazini, ukwenza ubalo lwegazi olupheleleyo (CBC) kunye nokujonga ubalo lweeseli ezimhlophe zegazi.
- I-X-ray yesifuba: Jonga ubungakanani be-thymus gland.
- I-ultrasound yezintso
- Uvavanyo olukhethekileyo olunxulumene nokuzikhusela komzimba: Umzekelo, `Immunophenotyping` kunye `Flow cytometry`.
- Uvavanyo lwemfuza: Oku kuqinisekisa ngokukodwa ukuba isiqwenga se-chromosome 22 asifumaneki.
Iphathwa njani le nto?
Isiphene semfuza esibangela le meko asinakususwa. Nangona kunjalo, iimpawu neengxaki ezivela kuyo zinokunyangwa ngempumelelo . Oku akuyonto inokwenziwa ngugqirha omnye kuphela. Iqela leengcali kwiinkalo ezahlukeneyo lisebenzisana ukunyanga umntwana.
Iindlela zonyango ziyahluka ngokuxhomekeke kwiimpawu zomntwana.
- Ii-antibiotics zinikwa kwiintsholongwane ezixhaphakileyo.
- Ukuba inqanaba le-calcium egazini liphantsi , kunikwa izongezo ze-calcium .
- Iingxaki zokuva zinyangwa ngeetyhubhu zeendlebe okanye izixhobo zokuva.
- Unyango lokuthetha, lomzimba nolwemisebenzi lunyanga ukulibaziseka ekuthetheni, ekuhambeni nakwezinye izinto.
- Unyango lokutshintshwa kwamahomoni lusetyenziselwa ukunyanga iingxaki zamahomoni.
- Kunokufuneka utyando xa kukho iingxaki zentliziyo okanye i-cleft palate.
- Abantwana abaneengxaki zokufunda bathunyelwa kwiinkqubo zemfundo ekhethekileyo esikolweni.
Ufanele umse nini umntwana wakho kugqirha?
Uninzi lwexesha, ugqirha uya kuyibona le meko xa ezalwa okanye ngexesha lokuhlolwa rhoqo ebuntwaneni. Nangona kunjalo, ukuba ukrokrela ukuba umntwana wakho unezinye zeempawu esizixubushileyo, thetha nogqirha wakho ngoko nangoko.
Ngokukodwa, ukuba umntwana wakho unengxaki yokuphefumla, mse kwiSebe lezeMpilo eziNgxamisekileyo (ETU) lesibhedlele esikufutshane ngoko nangoko.
Njengomzali, ungaziva ulusizi kakhulu kwaye uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo semfuza esifana neDiGeorge Syndrome. Yinto eqhelekileyo leyo. Kodwa khumbula, ngonyango olufanelekileyo kunye nenkxaso, aba bantwana banokuphila ubomi obusebenzayo nobonwabisayo. Ngaphandle kweemeko ezisongela ubomi ezifana neemeko zentliziyo ezinzulu, uninzi lwabantwana lunokuphila ubomi obuqhelekileyo.
Umyalezo Wokuya Ekhaya
- I-DiGeorge syndrome yimeko yemfuza ebangelwa kukulahleka kwenxalenye encinci ye-chromosome 22.
- Oku kudla ngokuba yinto engaqhelekanga. Asikuko ityala lakho.
- Iimpawu zahluka kakhulu kumntwana ngamnye. Ezinye zinokuba nemiphumo engemihle kakhulu, ngelixa ezinye zinokuba neemeko ezinzima ezifana nesifo sentliziyo.
- Nangona kungekho ndlela ithile yokunyanga oku, ukunyanga iimpawu kunokunceda umntwana aphile ubomi obusempilweni nobusebenzayo.
- Inkxaso yeqela loogqirha abaziingcali ibalulekile kule nto. Thetha nogqirha wakho ngokukhululekileyo ngale nto.
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