Syndrome Yedigeorge (Syndrome Yekubvisa 22q11.2)

Syndrome ye DiGeorge, inozivikanwawo se22q11.2 deletion syndrome, chirwere chinoitika kana chikamu chidiki chechromosome 22 chichipera. Kupera uku kunokonzera kuti masisitimu akawanda emuviri ashande zvisina kunaka.

Izwi rokuti 22q11.2 deletion syndrome rinofukidza mazwi akambofungwa kuti ndiwo mamiriro akasiyana. Aya mazwi anosanganisira syndrome yeDiGeorge, velocardiofacial (vel-oh-cahr-dee-oh-fay-shell) syndrome nemamwe mamiriro anoitika nekuda kwechikamu chimwe chete chechromosome 22 chichipera. Asi zviratidzo zvinogona kusiyana zvishoma.

Matambudziko ezvokurapa anowanzoenderana ne22q11.2 deletion syndrome anosanganisira matambudziko emwoyo, kudzikira kwema antibodies, kupatsanuka kwepa palate, matambudziko anokonzerwa ne calcium yakaderera, matambudziko akasiyana-siyana emaziso uye autoimmune disorders. Matambudziko anosanganisirawo kurasikirwa kunzwa, kusiyana kwemapfupa, kusiyana kweitsvo ne nhengo dzepabonde, uye kukura kwakaremara ne matambudziko ehupenyu hwepfungwa nemanzwiro.

Huwandu uye kuomarara kwezviratidzo zvine chekuita ne22q11.2 deletion syndrome zvinosiyana. Asi nyanzvi munzvimbo dzakasiyana-siyana dzinofanira kurapa vanenge vose vane iyi syndrome.

Zviratidzo zveDiGeorge syndrome zvinogona kusiyana zvichienderana nezvikamu zvemuviri zvakabatwa nehukuru hwezvinetso. Zvimwe zviratidzo zvinogona kujeka pakuumbwa, asi zvimwe zvinogona kusatomboonekwa kusvika gare gare muucheche kana semwana mudiki, kana semukuru.

Zviratidzo zveDiGeorge syndrome zvinogona kusanganisira:

• Matambudziko emwoyo, akadai sematambudziko nechimiro chemwoyo nemidziyo, kana kurira kwemwoyo ne ganda rebhuruu nekuda kwekufamba kwakaipa kweropa, kunonziwo cyanosis.
• Kuwanda kwehutachiona.
• Zvimiro zvechiso zvakasiyana, zvakadai sechinobva chisina kukura, nzeve dzinoita dzakasiyana, maziso akaparadzana, maziso ane hood uye chigunwe chemhuno chakakura. Asymmetric crying facies inogona kuvepowo. Izvi ndizvo apo minyoro iri kurutivi rumwe rwerumwe harukure zvizere, zvichiita kuti divi iroro remuromo ridonhe pakuchema, kunyange chiso chichiita chakaenzana pakuzorora.
• Pakati pemahombekombe emuromo, inozivikanwawo se cleft palate, kana mamwe matambudziko nemahombekombe.
• Kunetseka kudya, kusakwanisa kuwedzera uremu kana matambudziko emudumbu.
• Kurasikirwa kunzwa.
• Minyoro isina simba.
• Matambudziko etsinga.
• Kuvona kwakaipa nemamwe matambudziko eziso.
• Mamazinga mashoma e calcium muropa.
• Scoliosis.

Zvimwe zviratidzo zvinogona kusanganisira:

• Kukura kwakaderera.
• Kukura kwakaderera, sekuderedza mukutenderera, kugara pasi kana mamwe makumi emacheche.
• Kukura kwakaderera kutaura kana kutaura kunonzwika semhuno.
• Kuderedza kudzidza kana kusakwanisa kudzidza.
• Matambudziko ehutano.

Zvimwe zvirwere zvinogona kukonzera zviratidzo senge 22q11.2 deletion syndrome. Zvakakosha kuwana chirwere chakarurama nekukurumidza kana mwana wako akaratidza chero zviratidzo zvakanyorwa pamusoro.

Vashandi vezvehutano vanogona kufungidzira 22q11.2 deletion syndrome:

• Pakuumbwa. Kana dambudziko guru remwoyo, cleft palate kana zvimwe zviratidzo zvakajairika zve 22q11.2 deletion syndrome zviri pachena pakuumbwa, bvunzo zvichangoitwa usati mwana wako abva muchipatara.
• Pa well-baby visits. Zvirwere kana mamiriro ezvinhu ari ega e 22q11.2 deletion syndrome anogona kujeka nekufamba kwenguva. Munyanzvi wehutano wemwana wako anogona kuona matambudziko panguva yekutarisa vana vachangoberekwa kana kuongororwa pagore.

Munhu wese ane makopi maviri e chromosome 22 — imwe yakawanikwa kubva kuna baba nemumwe kubva kuna amai. Kana munhu akaita DiGeorge syndrome, kopi imwe chete ye chromosome 22 haina chikamu chinobatanidza inenge jini makumi matatu kusvika makumi mana. Mazhinji ejini aya haana kuzivikanwa zvakajeka uye haanzwisisike zvakanaka. Nzvimbo ye chromosome 22 yakabviswa inozivikanwa se 22q11.2.

Kubviswa kwemajini kubva ku chromosome 22 kazhinji kunoitika sechiitiko chisina kurongwa musperm ya baba kana mu egg yaamai. Kana zvakadaro zvinogona kuitika pakutanga kana mwana achikura. Zvisingawanzoitika, kubviswa kunopfuudzwa kumwana kubva kuna mubereki anewo kubviswa mu chromosome 22 asi angave ne zviratidzo zvishoma kana zvisina simba.

Mwanamai vasina chikamu che chromosome 22, kunyanya nzvimbo inozivikanwa se 22q11.2, ndivo vari panjodzi yakanyanya yeDiGeorge syndrome. Chikamu ichi chisingawanikwe chinoita kuti zvikamu zvakati wandei zvemuviri zvikure zvisina kunaka.

Kukanganisika kweventricular septal (VSD) kuvhura kuri mumoyo kunoonekwa pakuumbwa (kukanganisika kwemoyo kunoonekwa pakuumbwa). Kuvhura kuri pakati pekamuri dzemoyo dziri pasi (ventricular yekurudyi neyekuruboshwe). Kunobvumira ropa rakazara oksijeni kuti ridzoke mumapapu panzvimbo yekupompwa kuenda kune dzimwe nhengo dzemuviri.

Mutruncus arteriosus, tsinga huru imwe chete inobuda mumoyo, panzvimbo petsimba mbiri dzakasiyana. Kazhinji pane kuvhura kuri pakati pemadziro ari pakati pekamuri dzemoyo dziri pasi, dzinozivikanwa seventricles. Kuvhura kunonzi ventricular septal defect. Mutruncus arteriosus, ropa rakazara oksijeni, rinoratidzwa nemuvara mutsvuku, neropa risina oksijeni, rinoratidzwa nemuvara bhuruu, zvinosanganiswa. Ropa rakasanganiswa rinoratidzwa nemuvara wakapemha. Harina oksijeni yakakwana inodiwa nemuviri.

Tetralogy of Fallot musanganiswa wechinhu china chekukanganisika kwemoyo kunoonekwa pakuumbwa. Pane kuvhura mumoyo kunonzi ventricular septal defect. Panewo kuomarara kwe pulmonary valve kana imwe nzvimbo iri munzira iri pakati pemoyo nemapapu. Kuomarara kwe pulmonary valve kunonzi pulmonary stenosis. Tsinga huru yemuviri, inonzi aorta, haina panzvimbo chaiyo. Madziro ekamuri yemoyo iri kurudyi pasi akasimba, mamiriro ezvinhu anonzi right ventricular hypertrophy. Tetralogy of Fallot inochinja maitiro eropa rinoyerera mumoyo nekune dzimwe nhengo dzemuviri.

Glands ina diki dzeparathyroid, dziri pedyo nethyroid, dzinoita parathyroid hormone. Hormone iyi ine basa rekudzora mazinga e calcium ne phosphorus mumuviri.

Cleft palate kuvhura kana kupatsanuka kwepamusoro pemukanwa kunoitika kana tishu isina kuvhara zvizere panguva yekukura mudumbu usati wazvarwa. Cleft palate kazhinji inosanganisira kupatsanuka kwemhino (cleft lip), asi inogona kuitika isina kukanganisa mhino.

Lymphatic system chikamu che immune system yemuviri, inodzivirira kubva kune chirwere. Lymphatic system inosanganisira spleen, thymus, lymph nodes ne lymph channels, pamwe chete ne tonsils ne adenoids.

Zvikamu zve chromosome 22 zvisingawanikwi muDiGeorge syndrome zvinokanganisa kukura kwemaitiro akawanda emuviri. Somugumisiro, mamiriro ezvinhu anogona kukonzera zvikanganiso zvakawanda panguva yekukura kwe fetus.

• Matambudziko emoyo. 22q11.2 deletion syndrome kazhinji inokonzera matambudziko emoyo anogona kukonzera ropa risina oksijeni yakakwana. Semuenzaniso, matambudziko anogona kusanganisira kuvhura kuri pakati pekamuri dzemoyo dziri pasi, zvinozivikanwawo se ventricular septal defect. Kana kungava netsinga huru imwe chete panzvimbo petsimba mbiri dzinoenda kunze kwemoyo, zvinozivikanwawo se truncus arteriosus. Kana kungava nematambudziko mana ekugadzirwa kwemoyo, zvinozivikanwawo se tetralogy of Fallot.
• Hypoparathyroidism. Glands ina dzeparathyroid dziri pamutsipa dzinodzora mazinga e calcium ne phosphorus mumuviri. 22q11.2 deletion syndrome inogona kukonzera kuti glands dzeparathyroid dziwedzere kuoma kupfuura zvakajairwa uye dziburitse parathyroid hormone shoma. Izvi zvinotungamira ku hypoparathyroidism. Mamiriro ezvinhu aya anokonzeresa mazinga mashoma e calcium nemazinga epamusoro e phosphorus muropa.
• Thymus gland dysfunction. Thymus gland, iri pasi pe sternum, ndipo apo T cells — rudzi rwe white blood cell — dzinoibva. T cells dzakakura dzinoita kuti zvirwere zvidzivirirwe. Muvana vane 22q11.2 deletion syndrome, thymus gland inogona kunge iri diki kana kusavapo. Izvi zvinotungamira kune immune function yakashata nezvirwere zvakawanda, zvakakomba.
• Cleft palate. Mamiriro ezvinhu akajairika e 22q11.2 deletion syndrome cleft palate, iyo kuvhura kuri pamusoro pemukanwa, ine kana isina cleft lip. Matambudziko mamwe, asingawanikwi zvakajeka ekugadzirwa kwepalate anogona kuita kuti zviome kudya kana kutaura mazwi akati.
• Zviso zvakasiyana. Zvimiro zvakati zvezviso zvinogona kuonekwa muvanhu vane 22q11.2 deletion syndrome. Izvi zvinogona kusanganisira nzeve diki, dzakaderera, upamhi hwakapfupika hwekuvhura kweziso (palpebral fissures), maziso akavharwa, chiso chakareba, mhino yakakura (bulbous), kana groove pfupi kana yakapfapfaidzwa pamusoro pemhino.
• Autoimmune conditions. Vanhu vane 22q11.2 deletion syndrome vanogonawo kuva nerizi yakakura yekuwana autoimmune conditions, senge rheumatoid arthritis kana Graves' disease.
• Matambudziko mamwe. Zvirwere zvakawanda zvinogona kusanganiswa ne 22q11.2 deletion syndrome, senge matambudziko ekunzwa, matambudziko emaziso nekushanda kwakaipa kweitsvo.

Mune zvimwe zviitiko, mubereki ane chirwere angapasa DiGeorge syndrome kumwana. Kana uri kunetseka nezve nhoroondo yemhuri ye22q11.2 deletion syndrome kana kana watova nemwana ane syndrome iyi, ungada kuona chiremba anoziva nezvemagene. Chiremba uyu anonzi geneticist. Kana kuti ungada kuona genetic counselor kuti akubatsire kuronga mimba yemberi.

Kuongororwa kweDiGeorge syndrome (22q11.2 deletion syndrome) kunonyanya kubva pakuongororwa kwemurabhoritari kunogona kuona kuparara kwechromosome 22. Nyanzvi yehutano hwemwana wenyu inogona kuraira bvunzo iyi kana mwana wenyu akaita izvi zvinotevera:

• Musanganiswa wezvirwere kana mamiriro ezvinhu anoratidza 22q11.2 deletion syndrome.
• Dambudziko remoyo nekuti matambudziko emoyo anowanzoenderana ne 22q11.2 deletion syndrome.

Pamwe chete, mwana angave nemusanganiswa wezvirwere zvinoratidza 22q11.2 deletion syndrome, asi bvunzo yemurabhoritari hairatidzi chikamu chisingawanikwi chechromosome 22.

Kunyangwe pasina mushonga weDiGeorge syndrome (22q11.2 deletion syndrome), kurapwa kazhinji kunogona kugadzirisa matambudziko makuru, akadai sedambudziko remoyo kana kupatsanuka kwepachena. Matambudziko mamwe ehutano, pamwe chete neematambudziko ekukura, ehutano hwepfungwa kana ehutano hwepfungwa, anogona kubatwa kana kutarwa sezvinodiwa.

Kurapwa nekurapa kwe22q11.2 deletion syndrome kunogona kusanganisira kurapwa kwe:

• Hypoparathyroidism. Kutora calcium ne vitamin D zvinowedzerwa sezvakarayirwa nachiremba wako kazhinji kunogona kutonga hypoparathyroidism. Muzvimwe zviitiko, zvimwe zvinowedzerwa zvinogonawo kukurudzirwa.
• Matambudziko emoyo. Matambudziko mazhinji emoyo ane chekuita ne22q11.2 deletion syndrome anoda kuvhiya nekukurumidza mushure mekuberekwa kugadzirisa moyo uye kuita kuti kugovera ropa rakazara oxygen rive nani.
• Kushanda kwakaderera kwethymus gland. Kana mwana wako akaita basa rethymus, hutachiona hunogona kuva kakawanda asi kwete zvakanyanya. Aya hutachiona — kazhinji fodya nehutachiona hwenzeve — kazhinji anorapwa sezvaizoitwa kune chero mwana. Vana vazhinji vane basa rethymus rakadzikira vanotevera maitiro ekudzivirira kazhinji. Basa re immune system rinowedzera nemakore evana vazhinji vane thymus yakakuvadzwa zvakanyanya.
• Kushanda kwakashata kwethymus. Kana kukuvara kwethymus kuri kukuru kana kusina thymus, mwana wako ari pangozi yehutachiona hwakawanda hwakakomba. Kurapwa kunogona kuda kupanwa kwethymus tissue uye masero chaiwo kubva mu bone marrow kana masero chaiwo eropa anorwisa zvirwere.
• Kupatsanuka kwepachena. Kupatsanuka kwepachena kana mamwe maitiro asingawanzoitika epachena nemuromo kazhinji kunogona kugadziriswa nekuvhiya.
• Kukura kwese. Mwana wako angabatsirwa nezvikamu zvakasiyana-siyana zvekurapa, kusanganisira kurapwa kwekutaura, kurapwa kwemabasa uye kurapwa kwekusimukira. MuU.S., purogiramu dzekutanga dzinopindira dzinopindira marudzi aya ekurapa kazhinji dziripo kuburikidza nehurumende kana dare rehutano.
• Kutonga kwemamwe mamiriro. Aya mamiriro anogona kusanganisira matambudziko ekudyisa nekukura, matambudziko ekunzwa kana kuona, uye mamwe mamiriro ezvehutano.

Nekuti 22q11.2 deletion syndrome inogona kukonzera matambudziko mazhinji, nyanzvi dzakawanda dzichabatsira kuongorora mamiriro chaiwo, kukurudzira kurapwa uye kupa hanya. Iyi timu ichashanduka sezvinochinja zvinodiwa nemwana wako.

Nyanzvi dziri muchikwata chekutarisira mwana wako dzinogona kusanganisira vanachiremba ava nevamwe, sezvinodiwa:

• Nyanzvi yehutano hwemwana, inozivikanwawo se pediatrician.
• Nyanzvi yemamiriro ezvinhu anogara, inozivikanwawo se geneticist.
• Nyanzvi yemoyo, inozivikanwawo se cardiologist.
• Nyanzvi ye immune system, inozivikanwawo se immunologist.
• Nyanzvi yemhino, nzeve nemuromo, inozivikanwawo se ENT.
• Nyanzvi yezvirwere zvinotapukira.
• Nyanzvi yemamiriro ehormone, inozivikanwawo se endocrinologist.
• Chiremba wekuvhiya anoziva kugadzirisa mamiriro akadai se kupatsanuka kwepachena, anozivikanwawo se oral and maxillofacial surgeon.
• Chiremba wekuvhiya anoziva kugadzirisa matambudziko emoyo, anozivikanwawo se cardiovascular surgeon.
• Occupational therapist kuvaka hunyanzvi hwezuva nezuva.
• Speech therapist kuvandudza kugona kutaura.
• Developmental therapist kukura maitiro ane zera rakakodzera uye hunyanzvi hwemagariro.
• Nyanzvi yehutano hwepfungwa, senge pediatric psychiatrist kana psychologist.

Kuva nemwana ane DiGeorge syndrome (22q11.2 deletion syndrome) kunonetsa. Unogona kunge uri kubata nematambudziko mazhinji ehutano nekurapwa. Kuti ukwanise kusangana nezvinodiwa nemwana wako nezvake, bvunza timu yehutano nezvemasangano anopa zvinhu zvedzidzo, mapoka ekutsigira nezvimwe zviwanikwa zvevabereki vevana vane 22q11.2 deletion syndrome.