Kodi mwana wanu ali ndi vuto losowa chonchi? Tiyeni tikambirane za matenda a Kabuki Syndrome

Kodi mudamvapo za Kabuki Syndrome? Mwina ayi. Chifukwa ndi matenda osowa kwambiri a majini. Koma ndikofunikira kudziwa izi, makamaka ngati ndinu kholo. Mwachidule, vutoli lingakhudze ziwalo zosiyanasiyana za thupi la mwana wanu. Nthawi zambiri, ana awa amakhala ndi mawonekedwe osiyana a nkhope, kusintha pang'ono kwa mafupa awo, kuchedwa kwa kukula kwa nzeru, komanso mavuto akukula atabadwa. Koma si mwana aliyense amene ali ndi zizindikirozi, ndipo kuopsa kwa vutoli kumatha kusiyana malinga ndi munthu. Tiyeni tikambirane za izi mwatsatanetsatane, sichoncho?

Kodi dzina lakuti "Kabuki" linayamba bwanji?

Iyi ndi nkhani yosangalatsa kwambiri. Mu 1981, asayansi awiri aku Japan adapeza koyamba vutoli lotchedwa Kabuki Syndrome. Mmodzi mwa iwo adalitcha "Kabuki Makeup Syndrome". Chifukwa cha izi ndikuti mawonekedwe a nkhope ya ana ambiri omwe ali ndi vutoli amafanana ndi mawonekedwe a ochita sewero a "Kabuki", luso lachikhalidwe la zisudzo la ku Japan. Tangoganizirani, momwe ochita sewero amavalira nsidze zawo ndi mawonekedwe a maso awo zimafanana ndi mawonekedwe a nkhope ya ana awa. Koma pambuyo pake, asayansi adachotsa mawu oti "zodzoladzola" ndikuyamba kugwiritsa ntchito dzina loti "Kabuki Syndrome". Nthawi zina mungamvenso vutoli lotchedwa `Kabuki disease`, `KMS` kapena `Niikawa-Kuroki syndrome`.

Kodi zizindikiro za matenda a Kabuki ndi ziti?

Ngakhale kuti matenda a Kabuki ndi matenda obadwa nawo, mwana wanu sangasonyeze zizindikiro akangobadwa. Nthawi zina zimatenga zaka zingapo kuti zizindikiro ziwonekere. Ndikofunikanso kukumbukira kuti zizindikiro zomwe mwana wanu amakumana nazo komanso kuopsa kwake zimatha kusiyana malinga ndi munthu aliyense.

Matenda a Kabuki angakhudze ziwalo ndi machitidwe osiyanasiyana m'thupi la mwana. Tiyeni tiwone zizindikiro zodziwika bwino:

Mawonekedwe enieni a nkhope

Ichi ndi chinthu choyamba chomwe anthu ambiri amachiwona.

• Nsidze zimapindika mmwamba ndipo zimakhala zotalikirana. Pakhoza kukhala kutayika kwa tsitsi kumapeto kwa nsidze.
• Mipata pakati pa zikope (mipata ya palpebral) imakhala yayitali kwambiri.
• Nsonga ya mphuno imakhala yathyathyathya.
• Makutu amatha kukhala akuluakulu komanso ooneka ngati chikho.

Kusintha kwa dongosolo la mafupa

Kusintha kwina kungaonekenso m'mafupa a thupi.

• Matenda a msana (monga scoliosis).
• Chala chofiirira chimatha kupindika. Izi zimatchedwa clinodactyly m'mawu azachipatala.
• Zala ndi zala za mapazi zimatha kukhala zazifupi (brachydactyly).

Makhalidwe okhudzana ndi dongosolo lamanjenje

Mukhozanso kuona zinthu zina zokhudzana ndi ubongo ndi dongosolo lamanjenje.

• Kulephera kwa nzeru pang'ono kapena pang'ono.
• Matenda a khunyu.
• Kuchedwa kulankhula.
• Kufooka kwa minofu (izi zimatchedwa ``hypotonia''). Izi zikutanthauza kuti thupi limamva kufooka pang'ono.

Mavuto a kukula ndi m'mimba

Izi zingakhudze kukula kwa mwana komanso momwe amadyera.

• Kutalika ndi kulemera kungakhale kwabwinobwino pobadwa, koma mavuto ena a kukula angawonekere ali ndi miyezi 12.
• Kukula kwa mutu kungakhale kochepa kuposa kwapakati.
• Pakhoza kukhala vuto kudya ndi kumeza.
• Pali chiopsezo chonenepa kwambiri mukakhala achinyamata komanso mukakula.

Chofunika: Chizindikiro chimodzi kapena ziwiri mwa zizindikirozi sizitanthauza kuti mwana ali ndi matenda a Kabuki. Ndikofunikira kufunafuna upangiri wa dokotala kuti mudziwe bwino matendawa.

Ziwalo zina ndi machitidwe omwe angakhudzidwe

Kuwonjezera pa zizindikiro zazikuluzikuluzi, matenda a Kabuki angayambitse mavuto ena osiyanasiyana.

• Matenda a mtima obadwa nawo (matenda a mtima omwe amapezeka pobadwa).
• Mavuto a m'mimba (monga kudzimbidwa, kutsekula m'mimba kapena chakudya chomwe chimatuluka pakhosi).
• Mavuto a impso ndi njira zoberekera.
• Mlomo wosweka ndi/kapena pakamwa.
• Zikope zopindika kapena zopindika.
• Kukhala ndi mipata yayikulu pakati pa mano.
• Kuwonjezeka kwa chiopsezo cha matenda opatsirana pafupipafupi kapena matenda a autoimmune.
• Kulephera kumva.
• Kutha msinkhu msanga.

Kodi n’chiyani chimayambitsa matenda a Kabuki?

Chabwino, tsopano tiyeni tiwone chomwe chimayambitsa vutoli. Matenda a Kabuki amayamba chifukwa cha kusiyana kwa majini awiri.

Nthawi zambiri, pafupifupi 75%, imayamba chifukwa cha kusintha kwa majini otchedwa `KMT2D` (omwe kale ankadziwika kuti `MLL2`). Izi zimatchedwa Kabuki syndrome type 1.

3% mpaka 5% ina imayamba chifukwa cha kusintha kwa majini a KDM6A. Izi zimatchedwa Kabuki syndrome type 2.

Mwachidule, majini awiriwa amauza maselo athu kuti apange ma enzyme apadera. Ma enzyme amenewa amasintha mapuloteni otchedwa ma histone. Ma histone amenewa amalumikizana ndi DNA yathu ndipo amapatsa ma chromosome athu mawonekedwe awo. Chifukwa chake, posintha ma histone amenewa, ma enzyme amenewo amatha kulamulira momwe majini athu amagwirira ntchito. Ma enzyme amenewa ndi ofunikira kwambiri pakukula kwa mwana.

Choncho, pakakhala kusintha kwa jini ya `KMT2D` kapena jini ya `KDM6A`, ma enzyme amenewa sapangidwa. Kenako, chifukwa thupi lilibe ma enzyme amenewa, majiniwo sagwira ntchito bwino. Ndicho chifukwa chake zizindikiro ndi zovuta zomwe zimachitika mu matenda a Kabuki.

Komabe, nthawi zina matenda a Kabuki amapezeka koma palibe kusintha kulikonse komwe kumapezeka mu majini onse awiri. Pazochitika zotere, akatswiri sadziwa chomwe chimayambitsa vutoli.

Kodi madokotala amazindikira bwanji izi?

Ngati mukuganiza kuti mwana wanu ali ndi zizindikiro izi, chinthu choyamba chomwe muyenera kuchita ndikuwonana ndi dokotala. Dokotalayo adzakufunsani za mbiri ya matenda a mwana wanu ndikumufufuza. Adzafufuza mawonekedwe aliwonse a nkhope, matenda a mafupa, kapena matenda amitsempha omwe amagwirizana ndi matenda a Kabuki. Adzafunsanso za mbiri yachipatala ya banja la mwanayo (banja lachilengedwe).

Mayeso ozindikira matenda

Kuti atsimikizire matendawa, dokotalayo adzalamula kuti akapimidwe majini. Izi zikuphatikizapo kutenga chitsanzo cha magazi a mwanayo ndikuyang'ana kusintha kwa majini omwe amayambitsa matenda a Kabuki.

Monga ndanenera kale, ana ena omwe ali ndi matenda a Kabuki sangakhale ndi kusintha kwa majini awa. Pazochitika zotere, dokotala angachite mayeso ena a magazi kapena maphunziro a chromosome kuti athetse matenda ena.

Kodi mankhwala a matenda a Kabuki ndi ati?

Izi zingamveke ngati zomvetsa chisoni pang'ono, koma palibe mankhwala a matenda a Kabuki. Komabe, pali mankhwala. Cholinga chachikulu cha mankhwala awa ndikuwongolera zizindikiro za mwana wanu ndikuchepetsa chiopsezo cha zovuta. Tiyeni tiwone njira zamankhwala izi:

• Kuthandiza mwana msanga: Kutumiza mwana ku mautumiki othandizira ndi maphunziro apadera ali wamng'ono kumathandiza kukula kwa nzeru zake.
• Chithandizo chophatikizana ndi masensa: Izi zimaphatikizapo kumuwonetsa mwana zochitika zosiyanasiyana zokhudzana ndi masensa ndikumuthandiza kuthana ndi zomwe zimayambitsa.
• Mankhwala osiyanasiyana ochiritsira:
• Kuchita masewera olimbitsa thupi kungalimbikitse minofu ya mwana.
• Chithandizo cha ntchito chingathandize kukulitsa luso loyendetsa bwino thupi, monga mayendedwe ang'onoang'ono ochitidwa ndi zala.
• Chithandizo cha kulankhula chingathandize kukulitsa luso lolankhula ndi chilankhulo.
• Zakudya zokhuthala ndi/kapena kuyika chubu cha gastrostomy: Ngati mwana wanu akuvutika kudya, dokotala wanu angakupatseni njira izi.
• Chithandizo chowonjezera cha mahomoni okula: Ana omwe ali ndi vuto la mahomoni okula komanso afupiafupi angapindule ndi chithandizochi.
• Zipangizo zothandizira kumva kapena machubu oyezera kuthamanga kwa magazi: Ngati muli ndi vuto la kumva, zipangizozi zingakuthandizeni.
• Mankhwala: Mankhwala angagwiritsidwe ntchito poletsa zizindikiro monga khunyu, kufooka kwa m'mimba, ndi ADHD (vuto la kuchepa kwa chidwi).
• Opaleshoni:Pali nthawi zina pamene opaleshoni imafunika pa zinthu monga scoliosis, matenda a mtima, ndi milomo ndi pakamwa posweka.

Chithandizo chenicheni chomwe mwana wanu amalandira chimadalira ziwalo za thupi lake zomwe zakhudzidwa ndi zizindikiro zake. Angafunikenso kuonana ndi akatswiri osiyanasiyana (monga dokotala wa mtima, katswiri wa mitsempha, dokotala wa mano, dokotala wa endocrinologist, katswiri wa gastroenterologist, dokotala wa chitetezo chamthupi, dokotala wa maso, kapena dokotala wa urologist).

Mayeso azachipatala ndi kafukufuku wina akuchitika kuti apeze mankhwala a chifukwa chachikulu cha matenda a Kabuki.

Ngati mwana wanga ali ndi matenda a Kabuki, ndingamuthandize bwanji?

Ndizachibadwa kumva kudabwa komanso mantha mukaphunzira zinthu ngati izi. Koma simuli nokha. Chofunika kwambiri chomwe mungachite ndikuphunzira zambiri momwe mungathere za vutoli. Gwirani ntchito ndi dokotala wa mwana wanu kuti mudziwe zomwe mungachite kuti mupereke chisamaliro chabwino kwa mwana wanu. Zingakhalenso zothandiza kwambiri kulowa nawo magulu othandizira mabanja a ana omwe ali ndi matenda osowa. Kumeneko mutha kugawana zomwe mwakumana nazo ndi makolo ena, kufunsa mafunso, ndikupeza chitonthozo.

Kodi munthu amene ali ndi matenda a Kabuki amakhala ndi moyo wautali bwanji?

Kuyembekeza kwa matenda a Kabuki komanso nthawi yomwe munthu ali ndi matenda amenewa amakhala ndi moyo zimadalira kuopsa kwa matenda ake. Ngakhale kuti matendawa amatha kukhudza ziwalo zambiri za thupi, sizili choncho nthawi zonse. Kuchiza zizindikiro za mwanayo komanso kupewa mavuto ndikofunikira kwambiri kuti apititse patsogolo tsogolo lake.

Akuluakulu omwe ali ndi vutoli akhoza kukhala ndi moyo wabwinobwino. Amatha kuchita zinthu zatsiku ndi tsiku komanso kugwira ntchito za nthawi yochepa. Komabe, nthawi zambiri amafunika chisamaliro chothandizidwa. Popeza vutoli ndi losowa kwambiri, palibe kafukufuku wochuluka wokhudza nthawi yomwe anthu omwe ali ndi matenda a Kabuki amakhala ndi moyo. Chifukwa chake, ndi bwino kufunsa dokotala wa mwana wanu za nthawi yomwe amakhala ndi moyo kutengera matenda ake enieni.

Pomaliza, zinthu zoti muzikumbukira

Zingakhale zoopsa kudziwa kuti mwana wanu ali ndi vuto la majini. Komabe, zizindikiro, chithandizo, ndi momwe matenda a Kabuki amakhalira zimasiyana kwambiri malinga ndi munthu. Lankhulani ndi dokotala wa mwana wanu kuti mudziwe zambiri za vuto lenileni la mwana wanu. Iye angakuthandizeni paulendowu. Magulu othandizira mabanja omwe akhudzidwa ndi matenda osowa a majini nawonso angakhale gwero lalikulu la mphamvu. Angayankhe mafunso anu ndikukupatsani chiyembekezo cha vuto la mwana wanu. Musamadzimve kuti ndinu nokha. Musazengereze kupeza thandizo lomwe mukufuna.

'Kabuki Syndrome, Matenda a Majini, Matenda a Ana, Mawonekedwe a Nkhope, Mavuto a Kukula, Kukula kwa Luntha, Kabuki Syndrome, Matenda Osowa