I-Digeorge Syndrome (I-22q11.2 Deletion Syndrome)

I-DiGeorge, eyaziwa nangokuthi yi-22q11.2 deletion syndrome, yisimo esibangelwa ukushoda kwengxenye encane ye-chromosome 22. Lokhu kushoda kubangela izinhlelo eziningi zomzimba ukuba zingathuthuki kahle.

Igama elithi i-22q11.2 deletion syndrome lihlanganisa amagama ayekaziwa njengezimo ezahlukene. La magama ahlanganisa i-DiGeorge syndrome, i-velocardiofacial (vel-oh-cahr-dee-oh-fay-shell) syndrome nezinye izimo ezibangelwa yingxenye efanayo yesi-chromosome 22 esilahlekile. Kodwa izici zingase zihluke kancane.

Amaphethini ezempilo avame ukuxhumene ne-22q11.2 deletion syndrome ahlanganisa izinkinga zenhliziyo, ukunciphisa ukhuseleko lomzimba, i-cleft palate, izinkinga ezivela amazinga aphansi e-calcium, izinkinga ezahlukene zamehlo kanye ne-autoimmune disorders. Izinkinga zihlanganisa nokulahlekelwa ukuzwa, ukungafani kwama-skeletal, ukungafani kwesisu nezinye izingxenye zomzimba, kanye nokulibaziseka ekuthuthukeni ngezinkinga zokuziphatha nezingqondo.

Inani nobunzima bezimpawu ezihlobene ne-22q11.2 deletion syndrome ziyahluka. Kodwa ochwepheshe emikhakheni ehlukahlukene kudingeka baphathe cishe wonke umuntu onalesi simo.

Amasimptomu e-DiGeorge syndrome angashintsha kuye ngokuthi yiziphi izici zomzimba ezihilelekile nobunzima bezinkinga. Amanye amasimptomu angabonakala ekuzalweni, kodwa amanye angase angabonakali kuze kube kamuva ebuntwaneni noma njengengane encane, noma njengomuntu omdala.\n\nAmasimptomu e-DiGeorge syndrome angafaka:\n\n- Izinkinga zenhliziyo, njengokungasebenzi kahle kokwakheka kwenhliziyo nemithambo, noma umsindo wenhliziyo nokuhlaza okwesikhumba ngenxa yokungasebenzi kahle kokujikeleza kwegazi, okwaziwa nangokuthi i-cyanosis.\n- Ukutheleleka okuvamile.\n- Izici zobuso ezihlukile, njengokuqina kwesile, izindlebe ezibukeka ngokuhlukile, amehlo ahlukanisiwe, amehlo ahlanganisiwe nekhono lekhono elikhulu. I-Asymmetric crying facies nayo ingase ibe khona. Lokhu kwenzeka lapho imisipha ngakwesinye uhlangothi lomlomo ingakhula ngokugcwele, okubangela ukuthi uhlangothi lomlomo luwe phansi lapho ukhala, yize ubuso bubukeka buqondile lapho bukhulu.\n- Ukuqhekeka ophahleni lomlomo, okwaziwa nangokuthi i-cleft palate, noma ezinye izinkinga ngophahla.\n- Ukukhuluphala kokudla, ukwehluleka ukuzuza isisindo noma izinkinga zesisu.\n- Ukulahlekelwa ukuzwa.\n- Ukuqina okungekuhle kwemisipha.\n- Izinkinga zezinkukhu.\n- Ukubona okungekuhle nezinye izinkinga zamehlo.\n- Amazinga aphansi e-calcium egazini.\n- I-Scoliosis.\n\nAmanye amasimptomu angafaka:\n\n- Ukukhula okulile.\n- Ukuthuthukiswa okulile, njengokulibaziseka ekuphendukeni, ukuhlala noma ezinye izigaba zezingane.\n- Ukulibaziseka kokukhula kokukhuluma noma ukukhuluma okufana nekhala.\n- Ukulibaziseka ekufundeni noma ukukhubazeka.\n- Izinkinga zokuziphatha.\n\Ezinye izimo zingabangela amasimptomu afana ne-22q11.2 deletion syndrome. Kubalulekile ukuthola ukuxilongwa okulungile ngokushesha uma ingane yakho ibonisa noma yiliphi isimo elihlungiwe ngenhla.\n\Odokotela bangase bathuke nge-22q11.2 deletion syndrome:\n\n- Ekuzalweni. Uma inkinga enkulu yenhliziyo, i-cleft palate noma ezinye izimpawu ezivamile ze-22q11.2 deletion syndrome zicacile ekuzalweni, ukuhlolwa cishe kuzokwenziwa ngaphambi kokuba ingane yakho ishiye isibhedlela.\n- Ekuvakasheni kwezingane ezempilo. Ukugula noma izimo ezivamile ze-22q11.2 deletion syndrome kungenzeka zibe sobala ngokuhamba kwesikhathi. Udokotela wezingane yakho angase abone izinkinga ngesikhathi sokuvakasha okuhleliwe kwezingane noma ukuhlolwa kwaminyaka yonke.

Umuntu ngamunye unezikhophi ezimbili zekromosome 22—enye ezuzwe kuyise kwenye ezuzwe kunina. Uma umuntu enesifo se-DiGeorge, ikhophi elilodwa lekromosome 22 alilahlekile ingxenye ethile ebandakanya cishe amajini angu-30 kuya kwangu-40. Amaningi ala majini awakaqondakali kahle futhi awaziwa kahle. Indawo yekromosomu 22 esusiwe iyaziwa ngokuthi yi-22q11.2.

Ukususwa kwamajini ekromosomu 22 ngokuvamile kwenzeka njengomcimbi ongaqondakali esiyekeni sikababa noma kwephunga lamanina. Noma kungenzeka kwenzeke ekuqaleni lapho ingane ithuthuka. Ngokungavamile, ukususwa kudluliselwa engwaneni umama noma ubaba abanesifo esifanayo kodwa bangase babe nezimpawu ezimbalwa noma ezinzima.

Izingane ezingekho nezingxenye zekromosome 22, ikakhulukazi indawo eyaziwa ngokuthi yi-22q11.2, zisenkingeni enkulu yokuba ne-DiGeorge syndrome. Le ngxenye engapheliyo yenza izinhlelo eziningi zomzimba zingathuthuki kahle.

Isifo se-ventricular septal defect (VSD) yithuba lenhliziyo elikhona ngesikhathi sokuzalwa (isiphambeko senhliziyo esizalwa naso). Leli thuba likhona phakathi kwamakamelo angaphansi enhliziyo (ikhamera yasekunene neyakwesobunxele). Livumela igazi elipfumile oxygen ukuthi libuyele emaphashini esikhundleni sokuthunyelwa emzimbeni wonke.

Ku-truncus arteriosus, ithutha elilodwa elikhulu liphuma enhliziyweni, esikhundleni sezithutha ezimbili ezihlukene. Kukhona futhi isibaya odongeni phakathi kwamakamelo angaphansi enhliziyo, okuthiwa ama-ventricles. Leli thuba libizwa nge-ventricular septal defect. Ku-truncus arteriosus, igazi elipfumile oxygen, eliboniswe ngobomvu, negazi elingapheli oxygen, eliboniswe ngolubomvu, lixuba ndawonye. Igazi elihlanganisiwe liboniswe ngombala oluhlaza okwesibhakabhaka. Alinawo oxygen eyanele yizidingo zomzimba.

I-Tetralogy of Fallot iyinhlanganisela yezinguquko ezine zenhliziyo ezikhona ngesikhathi sokuzalwa. Kukhona isibaya senhliziyo esibizwa nge-ventricular septal defect. Kukhona futhi ukuncipha kwe-pulmonary valve noma enye indawo endleleni phakathi kwenhliziyo namaphashi. Ukunciphisa kwe-pulmonary valve kubizwa nge-pulmonary stenosis. Ithutha elikhulu lomzimba, elibizwa nge-aorta, libekwe endaweni engafanele. Udonga lwekamelo elingaphansi kwesokudla lenhliziyo liqine kakhulu, isimo esibizwa nge-right ventricular hypertrophy. I-Tetralogy of Fallot yashintsha indlela igazi eligeleza ngayo enhliziyweni nakuwo wonke umzimba.

Amagxathu amane amancane e-parathyroid, asele eduze kwe-thyroid, enza i-parathyroid hormone. Uhormone udlala indima ekulawuleni amazinga e-minerals calcium ne-phosphorus emzimbeni.

Isifo se-cleft palate kuyithuba noma ukuhlukana ophahleni lomlomo okuvela lapho ithusi lingavalwa ngokuphelele ngesikhathi sokuthuthukiswa esizalweni ngaphambi kokuzalwa. Isifo se-cleft palate sivame ukufaka ukuhlukana embobo ophezulu (cleft lip), kodwa singase senzeke ngaphandle kokuthinta imbobo.

I-lymphatic system ingxenye yesistimu yokulwa nezifo yomzimba, evikela ukutheleleka nezifo. I-lymphatic system ihlanganisa i-spleen, i-thymus, ama-lymph nodes nama-lymph channels, kanye nama-tonsils nama-adenoids.

ingxenye ze-chromosome 22 ezingekho ku-DiGeorge syndrome zithinta ukuthuthukiswa kwezinhlelo eziningi zomzimba. Ngenxa yalokho, leli simo lingabangela amaphutha amaningana ngesikhathi sokuthuthukiswa kwesilwane.

• Izinkinga zenhliziyo. I-22q11.2 deletion syndrome ivame ukubangela izinkinga zenhliziyo ezingabangela igazi elincane kakhulu elipfumile oxygen. Ngokwesibonelo, izinkinga zingafaka isibaya phakathi kwamakamelo angaphansi enhliziyo, okuthiwa i-ventricular septal defect. Noma kungaba khona ithutha elilodwa elikhulu kunokuba yizithutha ezimbili eziphuma enhliziyweni, okuthiwa i-truncus arteriosus. Noma kungaba khona izinkinga ezine zokwakheka kwenhliziyo, okuthiwa i-tetralogy of Fallot.
• Hypoparathyroidism. Amagxathu amane e-parathyroid entanyeni alawula amazinga e-calcium ne-phosphorus emzimbeni. I-22q11.2 deletion syndrome ingabangela amagxathu e-parathyroid ukuba mancane kunokujwayelekile futhi akhiqize i-parathyroid hormone encane kakhulu. Lokhu kuholela ku-hypoparathyroidism. Leli simo liholela emazingeni aphansi e-calcium namazinga aphezulu e-phosphorus egazini.
• Ukungasebenzi kahle kwe-thymus gland. I-thymus gland, esele ngaphansi kwe-breastbone, yilapho ama-T cells — uhlobo lweselula elimhlophe legazi — ekhulayo. Ama-T cells avuthiwe asiza ekulweni nezifo. Ezinganeni ezine-22q11.2 deletion syndrome, i-thymus gland ingaba ncane noma ingabi khona. Lokhu kuholela ekusebenzeni okubi kwe-immune futhi kube nezifo ezivamile, ezinzima.
• Isifo se-cleft palate. Isimo esivamile se-22q11.2 deletion syndrome yisi-cleft palate, okuyithuba ophahleni lomlomo, ngokunembobo noma ngaphandle kwayo. Ezinye izinkinga ezingabonakali kahle zokwakheka komlomo zingenza kube nzima ukugwinya noma ukwenza imisindo ethile ekukhulumeni.
• Izici zobuso ezihlukile. Inani lezici zobuso ezikhethekile lingase libe khona kwabanye abantu abane-22q11.2 deletion syndrome. Lezi zingafaka izindlebe ezincane, ezibekwe phansi, ububanzi olufushane lokumvula kwamehlo (palpebral fissures), amehlo ahlanganisiwe, ubuso obude, ukhulu olukhulu lwempumulo (bulbous), noma umgodi omfushane noma oqhelelene embobeni ophezulu.
• Izimo ze-autoimmune. Abantu abane-22q11.2 deletion syndrome bangase babe nenkinga enkulu yokuthola izimo ze-autoimmune, njenge-rheumatoid arthritis noma i-Graves' disease.
• Ezinye izinkinga. Izimo eziningi zezokwelapha zingase zibe nobudlelwano ne-22q11.2 deletion syndrome, njengezinkinga zokuzwa, izinkinga zamehlo nokusebenza okubi kwesibindi.

Kwezinye izimo, umzali othombekile angadlulisela i-DiGeorge syndrome kwingane. Uma ukhathazekile ngomlando womndeni we-22q11.2 deletion syndrome noma uma usuvele unengane enalesi simo, ungase ufune ukubona udokotela oqeqeshwe ezimweni zofuzo. Lo dokotela ubizwa ngokuthi ungumchwepheshe wezofuzo. Noma ungase ufune ukubona umeluleki wezofuzo ukuze akusize ukuhlela ukukhulelwa kwesikhathi esizayo.

Ukuxilongwa kwe-DiGeorge syndrome (i-22q11.2 deletion syndrome) kuqala ngokuhlolwa kwelebhu okukwazi ukuthola ukususwa kwe-chromosome 22. Uchwepheshe wezempilo yengane yakho cishe uzoyala ukuhlolwa lokhu uma ingane yakho inalezi zinto:

• Ukuhlanganiswa kwezinkinga zezempilo noma izimo ezikhomba i-22q11.2 deletion syndrome.
• Inkinga yentliziyo ngoba izinkinga ezithile zentliziyo zivame ukuxhumene ne-22q11.2 deletion syndrome.

Kwezinye izimo, ingane ingaba nokuhlanganiswa kwezimo ezikhomba i-22q11.2 deletion syndrome, kodwa ukuhlolwa kwelebhu akubonisi ingxenye eyiphukile ye-chromosome 22.

Nakuba ayikho indlela yokwelapha i-DiGeorge syndrome (i-22q11.2 deletion syndrome), ukwelashwa kuvame ukulungisa izinkinga ezibucayi, njengoba kunjalo ngenkinga yentliziyo noma i-cleft palate. Ezinye izinkinga zempilo, kanye nezinkinga zokukhula, zempilo yengqondo noma zokuziphatha, zingaphathwa noma ziqaphelwe njengoba kudingeka.

Ukuphathwa nokwelashwa kwe-22q11.2 deletion syndrome kungafaka ukwelashwa kwe:

• Hypoparathyroidism. Ukuthatha ama-supplements e-calcium ne-vitamin D njengoba kuqondiswe yisazi sakho sezempilo kuvame ukuphatha i-hypoparathyroidism. Kwezinye izimo, ezinye izinto ezikhuthazayo zingase zikhuthazwe.
• Izinkinga zentliziyo. Izinkinga eziningi zentliziyo ezihlobene ne-22q11.2 deletion syndrome zidinga ukuhlinzwa maduze nje ngemva kokuzalwa ukuze kulungiswe inhliziyo futhi kwenziwe ukunikezwa kwegazi elikwazi ukuphefumula kube ngcono.
• Ukusebenza okulinganiselwe kwe-thymus gland. Uma ingane yakho inokusebenza okuthile kwe-thymus, ukutheleleka kungase kube khona njalo kodwa akuyona into ebucayi. Lezi zifo - ngokuvamile izifo zokubanda nezifo zezindlebe - ngokuvamile ziphathwa njengoba zingekuba khona kunoma iyiphi ingane. Izingane eziningi ezinokusebenza okulinganiselwe kwe-thymus zilandela izikhathi ezivamile zokugonywa. Ukusebenza kwe-immune system kuya ngcono ngokukhula kwezingane eziningi ezi-thymus yazo elimele kancane.
• Ukusebenza okubi kwe-thymus. Uma ukulimala kwe-thymus kunzima noma ayikho i-thymus, ingane yakho isengozini yokutheleleka okunzima. Ukwelashwa kungadinga ukuhlinzwa kwe-thymus tissue namaseli akhethekile e-bone marrow noma amaseli egazi akhethekile alwa nezifo.
• I-cleft palate. I-cleft palate noma ezinye izici ezingavamile ze-palate ne-lip ngokuvamile zingalungiswa ngokuhlinzwa.
• Ukuthuthukiswa okujwayelekile. Ingane yakho cishe izosiza ngezinhlobo ezahlukene zokwelashwa, okuhlanganisa ukwelashwa kokukhuluma, ukwelashwa kokusebenza nokwelashwa kokuthuthukiswa. E-U.S., izinhlelo zokungenela kwasekuqaleni ezinika lezi zinhlobo zokwelashwa ngokuvamile ziyatholakala nge-state noma i-county health department.
• Ukuphathwa kwezinye izimo. Lezi zimo zingafaka izinkinga zokudla nokukhula, izinkinga zokuzwa noma ukubona, nezinye izimo zezokwelapha.

Ngenxa yokuthi i-22q11.2 deletion syndrome ingabangela izinkinga eziningi, ochwepheshe abaningi cishe bayosiza ekuthola izimo ezithile, bancoma ukwelashwa futhi banikeze ukunakekelwa. Leli qembu lizoshintsha njengoba izidingo zengane yakho zishintsha.

Ochwepheshe eqenjini lokunakekelwa kwengane yakho bangafaka laba ochwepheshe nabanye, njengoba kudingeka:

• Ochwepheshe bezempilo yabantwana, abaziwa nangokuthi yi-pediatrician.
• Ochwepheshe ezimweni eziwusifa, abaziwa nangokuthi yi-geneticist.
• Ochwepheshe bentliziyo, abaziwa nangokuthi yi-cardiologist.
• Ochwepheshe be-immune system, abaziwa nangokuthi yi-immunologist.
• Ochwepheshe bezindlebe, impumulo nomlomo, ababizwa nangokuthi yi-ENT.
• Ochwepheshe bezifo ezithathelwanayo.
• Ochwepheshe bezimo ze-hormone, abaziwa nangokuthi yi-endocrinologist.
• Udokotela oqeqeshwe ekuqondiseni izimo ezinjenge-cleft palate, abaziwa nangokuthi yi-oral and maxillofacial surgeon.
• Udokotela oqeqeshwe ekuqondiseni izinkinga zentliziyo, abaziwa nangokuthi yi-cardiovascular surgeon.
• Uchwepheshe wokusebenza ukuze wakhe amakhono okuqonda, okuvamile.
• Uchwepheshe wokukhuluma ukuthuthukisa ikhono lokukhuluma.
• Uchwepheshe wokuthuthukiswa ukuthuthukisa ukuziphatha okuhambisana nobudala namakhono omphakathi.
• Ochwepheshe bezempilo yengqondo, njengoba kunjalo nge-pediatric psychiatrist noma i-psychologist.

Ukuba nengane ene-DiGeorge syndrome (i-22q11.2 deletion syndrome) kunzima. Ungase ubhekane nezinkinga eziningi zempilo nokuphathwa. Ukuze usize uhlangabezane nezidingo zengane yakho nezakho, buza iqembu lokunakekelwa kwezempilo mayelana nezinhlangano ezinikeza izinto zokufunda, amaqembu wokusekela nezinye izinsiza zabazali babantwana abane-22q11.2 deletion syndrome.