Kodi mwana wanu ali ndi '22q11.2 Deletion Syndrome'? Tiyeni tikambirane izi mwachidule.

Nthawi zina dokotala akatiuza dzina la vuto lomwe mwana wanu ali nalo, timamva mantha ambiri, kudabwa, komanso kusokonezeka . '22q11.2 Deletion Syndrome' ndi dzina lina lotere. Musachite mantha, ngakhale dzinalo litamveka lovuta pang'ono. Kumvetsa vutoli mwachidule kudzakuthandizani kwambiri inu ndi mwana wanu. Tiyeni tikambirane za izi mosavuta, kuyambira pachiyambi.

Choyamba, tiyeni tiwone majini ndi ma chromosome amenewa.

Mwachidule, matupi athu ali ngati buku lalikulu la malangizo. Mitu yomwe ili m'bukuli ndi yomwe timaitcha 'Chromosomes'. Kawirikawiri, selo la munthu limakhala ndi ma chromosome 46 awa. Ma chromosome aliwonsewa ali ndi 'majini' zikwizikwi, chidziwitso chomwe chimatsimikizira makhalidwe onse a thupi lathu. Chilichonse kuyambira kutalika kwathu mpaka mtundu wa khungu lathu mpaka kapangidwe ka tsitsi lathu chimatsimikiziridwa ndi majini awa.

'22q11.2 deletion syndrome' ndi matenda a majini. Chomwe chimachitika apa ndi chakuti gawo laling'ono kwambiri la chromosome 22, mwa ma chromosome 46 omwe tatchulawa, limatayika. Mawu achingerezi akuti 'deletion' amatanthauza 'deletion' kapena 'reduction'. Gawo la chromosome likatayika motere, majini omwe anali mbali imeneyo amatayikanso. Ichi ndichifukwa chake magwiridwe antchito a ziwalo zosiyanasiyana za thupi, monga mtima, chitetezo chamthupi, ndi ubongo, amatha kukhudzidwa.

Kodi izi ndi zofanana ndi 'DiGeorge Syndrome'?

Inde, mwina munamvapo dzina lakuti 'DiGeorge Syndrome'. Ichi ndi chimodzi mwa zizindikiro za vuto la kuchotsedwa kwa 22q11.2. Kale, asanayambe kuyesa majini, madokotala ankagwiritsa ntchito mayina osiyanasiyana pa gulu la zizindikirozi, monga 'DiGeorge Syndrome'. Koma pambuyo pake, kuyesa majini kunapeza kuti chifukwa chachikulu cha matenda ambiriwa ndi kutayika kwa gawo la chromosome 22. Chifukwa chake tsopano onse abweretsedwa pansi pa ambulera imodzi, '22q11.2 deletion syndrome'.

Si ana onse omwe ali ndi vutoli omwe ali ndi zizindikiro zofanana. Ana ena akhoza kukhala ndi zizindikiro zochepa, pomwe ena akhoza kukhala ndi zambiri. Zimatengera kuchuluka ndi mtundu wa majini omwe akusowa.

Pansipa pali ena mwa mavuto omwe amafala kwambiri okhudzana ndi vutoli.

Chofunika kwambiri ndichakuti kwa anthu ena, zizindikirozi zimakhala zochepa komanso zosawoneka bwino. Choncho anthu ena sangadziwe kuti ali ndi vutoli mpaka atakula.

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Kodi ichi chinayambitsa chiyani? Kodi ichi ndi chifukwa changa?

Mukapeza kuti mwana wanu ali ndi vutoli, funso loyamba lomwe limabwera m'maganizo mwanu ndi lakuti, "Kodi izi zachitika bwanji? Kodi ndine amene ndachita izi?"

Pali chinthu chomwe muyenera kumvetsetsa bwino apa.

Imeneyi ndi matenda obadwa nawo. Sizimachitika chifukwa cha chilichonse chomwe mudachita, kudya, kapena kumwa musanayambe kapena muli ndi pakati. Chonde musadandaule nazo kapena kudziimba mlandu.

Nthawi zambiri (pafupifupi 90% ya nthawi), vutoli limayamba chifukwa cha kusintha kwa majini mwachisawawa. Izi zikutanthauza kuti silinatengedwe mwachibadwa. Koma nthawi zina (pafupifupi 10%), mwanayo akhoza kutenga matendawa kuchokera kwa kholo limodzi. Nthawi zina, makolo amenewo sangakhale ndi zizindikiro kapena zizindikiro zochepa kwambiri ndipo sangadziwe nkomwe za matendawa. Choncho, ngati kuli kofunikira, dokotala wanu angakutumizireni nonse awiri kuti mukayezedwe mwachibadwa.

Kodi imachiritsidwa bwanji?

Pakadali pano palibe 'mankhwala' ofanana ndi onse a mtundu uwu wa matenda a chromosome. Chifukwa chakuti kusinthaku kulipo mu selo lililonse m'thupi, sikungatheke kukonzedwa kotheratu. Koma chofunika kwambiri, pali njira zochizira ndi zowongolera pafupifupi mavuto onse omwe amabwera chifukwa cha izi.

Zosowa za chithandizo cha ana awa zimasiyana pa mwana aliyense. Chifukwa chake, dokotala wanu ndi gulu la akatswiri adzagwira ntchito limodzi kuti apange dongosolo la chithandizo lomwe likugwirizana ndi mwana wanu. Dongosololi likhoza kuphatikizapo:

• Chithandizo cha matenda a mtima: Ngati pakufunika, opaleshoni yokonza vuto la mtima.
• Physiotherapy: Kulimbitsa ndi kuphunzitsa minofu kuchita zinthu monga kuyenda ndi kuthamanga.
• Chithandizo cha ntchito: Kukulitsa luso labwino monga kumanga zingwe za nsapato ndi kulemba.
• Chithandizo cha kulankhula: Kuthana ndi mavuto olankhula. (Izi ziyenera kuyambitsidwa pambuyo pa opaleshoni kuti akonze mkamwa wosweka ngati ulipo).
• Kuyezetsa mwana pafupipafupi: Yesani nthawi zonse kukula, kulemera, kutalika, ndi kumva kwa mwanayo.
• Chithandizo cha chitetezo chamthupi: Ngati chitetezo chamthupi chili chofooka, perekani chithandizo chapadera (monga kuyika mafupa) kapena upangiri wopewera matenda.
• Chithandizo cha mavuto a mahomoni: Ngati calcium ili yochepa, perekani mapiritsi a calcium ndi vitamini D.
• Thandizo la thanzi la maganizo: Uphungu wa nkhawa yamaganizo yomwe ingakhudze mwana ndi inu.

Kodi vutoli lingachitike mwa mwana wina m'banjamo?

Ichinso ndi vuto lalikulu kwa makolo.

• Ngati makolo onse awiri alibe kusintha kwa majini kumeneku , chiopsezo choti mwana wina akhale ndi vutoli mtsogolomu chimakhala chochepa kwambiri (pafupifupi 1%).
• Komabe, ngati kholo limodzi lili ndi majini otere , mwana aliyense wobadwa ali ndi chiopsezo cha 50% chotengera majiniwo.

Ngati wina m'banja mwanu ali ndi vutoli kapena muli ndi kukayikira kulikonse, chinthu chabwino kwambiri choti muchite ndi kupita kwa dokotala wanu.Kukambirana za izi ndi dokotala wanu. Kenako, ngati kuli kofunikira, mwana wosabadwayo akhoza kuyesedwa vutoli panthawi ya mimba yotsatira. Mayeso monga (Chorionic villus sampling) kapena (amniocentesis) amagwiritsidwa ntchito pa izi. Koma kumbukirani, ngakhale kuti mayesowa amatha kudziwa ngati mwana ali ndi kusintha kwa majini kapena ayi, sanganene kuti zizindikiro zake zidzakhala zoopsa bwanji.