Kodi muli ndi mavuto ndi manja ndi mtima wanu? Mwina ndi Holt-Oram Syndrome!

Nthawi zina timakhala ndi matenda omwe sitingathe kuwaganizira, sichoncho? Lero tikambirana za vuto lomwe limapezeka kawirikawiri, koma ndi lofunika kwambiri kudziwa. Ngati muli ndi mavuto ena a mtima wanu komanso vuto m'dzanja lanu, dzanja lanu kapena mkono wanu, ndiye kuti chifukwa chake chingakhale 'Holt-Oram Syndrome'. Musadandaule, tiyeni tikambirane za izi mwatsatanetsatane.

Kodi Holt-Oram Syndrome ndi chiyani?

Mwachidule, matenda a Holt-Oram ndi matenda obadwa nawo osowa kwambiri . Amakhudza makamaka mafupa a manja anu, manja, ndi manja, komanso mtima wanu. Tangoganizirani, anthu ena akhoza kukhala ndi matenda enaake m'mafupa a dzanja limodzi. Angakhale mbali imodzi yokha, kapena mbali zonse ziwiri. Anthu ena angakhale opanda chala, kapena chala chawo chachikulu chingakhale chotalika ngati zala zina. Sikuti kokha, angabwerenso ndi mavuto a mtima. Matenda a mtima awa akhoza kukhala zolakwika mu kapangidwe ka mtima, kapena pakhoza kukhala zolakwika zina mu mphamvu zamagetsi zomwe zimalamulira kugunda kwa mtima. Matendawa amatchedwanso ndi mayina ena angapo, mwachitsanzo `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, kapena `(Heart-hand syndrome, type 1)`. Koma dzina lomwe limagwiritsidwa ntchito kwambiri ndi Holt-Oram Syndrome.

Kodi zizindikiro za vutoli ndi ziti?

Zizindikiro za Holt-Oram Syndrome zimatha kusiyana malinga ndi munthu . Kwa anthu ena, zizindikirozi sizingawonekere bwino mokwanira. Pazochitika zotere, madokotala amatha kuzizindikira molondola pogwiritsa ntchito mayeso apadera monga mayeso a `(X-ray)`, `(CT scan)` (CT scan) kapena `(MRI)` (MRI).

Mavuto okhudzana ndi mafupa (manja, mikono)

Ngati muli ndi matenda a Holt-Oram, fupa limodzi la dzanja lanu mwina silinakule bwino . Kuphatikiza apo, mungakhalenso ndi mavuto ena a mafupa, monga:

• Matenda olakwika m'khosi kapena m'mapewa.
• Dzanja logawanika. Zala zingaoneke ngati zalumikizana.
• Kulephera kutambasula kapena kuzungulira mkono wonse womwe wakhudzidwa.
• Kupindika kwa msana, monga kugwedezeka (kyphosis) kapena kupindika kwa msana m'mbali (scoliosis).
• Kusakhala ndi chala chachikulu cham'manja, kapena chala chachikulu cham'manja kukhala chachitali kuposa chala china chamanja ndipo chili pamalo osiyana.
• Kupezeka kwa mafupa ena okha pa mkono kapena kusakhalapo kwa mafupa aliwonse.
• Kulephera kwa mafupa a mkono wapamwamba kukula bwino.

Tangoganizirani, mwana wamng'ono akabadwa, alibe chala chachikulu pa dzanja limodzi, kapena chimakhala chosiyana ndi zala zina. Kapena zimakhala zovuta kupinda dzanja bwino. Izi ndi zina mwa mavuto a mafupa omwe tikukamba.

Mavuto a mtima

Ndi Holt-Oram SyndromeAnthu ambiri ali ndi vuto linalake la mtima. Chofala kwambiri mwa izi ndi dzenje lomwe limalekanitsa mbali yakumanzere ndi yakumanja ya mtima, lotchedwa septum. Pali mitundu iwiri ya mabowo:

• Chilema cha septal ya mtima: Ichi chili pakati pa zipinda ziwiri zapamwamba za mtima (atria).
• Vuto la septal ya ventricle: Izi zili pakati pa zipinda ziwiri (ventricle) pansi pa mtima.

Mwachidule, mtima uli ndi zipinda zinayi. Ziwiri pamwamba ndi ziwiri pansi. Chomwe chimachitika apa ndi chakuti mabowo amapangika m'makoma pakati pa zipindazi. Zizindikiro zimasiyana malinga ndi kukula kwa mabowo awa.

Anthu ena amathanso kudwala matenda a mtima. Izi zimakhudza mphamvu zamagetsi zomwe zimalamulira kayendedwe ka mtima. Izi zingayambitse kugunda kwa mtima pang'onopang'ono (bradycardia) kapena kugunda kwa mtima kosakhazikika (atrial fibrillation). Matendawa amatha kukhalapo pobadwa kapena kukulirakulira pakapita nthawi. Chifukwa chake ndikofunikira kuti gulu lanu lachipatala liziyang'anira izi moyo wanu wonse.

Matenda a mtima omwe amagwirizana ndi matenda a Holt-Oram angayambitsenso zizindikiro monga:

• Kulephera kukula.
• Kutopa kwambiri, kutopa.
• Kuthamanga kwa magazi m'mapapo (pulmonary hypertension).
• Kupuma movutikira.
• Kupuma movutikira.

Nchifukwa chiyani Holt-Oram Syndrome imachitika?

Nthawi zambiri, chifukwa chachikulu cha matenda a Holt-Oram ndi kusintha, kapena kusintha kwa majini otchedwa `TBX5` . Jini iyi ya `TBX5` imapanga mapuloteni omwe ndi ofunikira pakukula kwa miyendo yakumtunda (manja, mikono) panthawi ya kukula kwa mwana wosabadwayo. Komanso, mapuloteni awa ndi ofunikira pakugawa mtima m'zipinda zinayi. Kunena zoona, chilichonse m'thupi lathu chimayendetsedwa ndi majini. Chifukwa chake, mavutowa amayamba pakasintha majini awa.

Kusintha kwa majini kwa `TBX5` kumeneku kumatha kuperekedwa kuchokera ku mibadwomibadwo (kobadwa nako) . Izi zikutanthauza kuti ngati mayi kapena bambo ali ndi vutoli, pali mwayi woti mwana nayenso adzakhala nalo. Komabe, nthawi zambiri, vutoli limachitika pamene kusintha kwa majini atsopano kumachitika popanda aliyense m'banjamo amene anali ndi matendawa kale . Izi zikutanthauza kuti likhoza kuchitika popanda mbiri ya banja.

Komabe, nthawi zina anthu omwe ali ndi matenda a Holt-Oram sangapeze kusintha kwa majini a TBX5. Asayansi sakumvetsabe momwe anthuwa amapezera matendawa. Amaganiza kuti mwina chifukwa cha kusintha kwa mapuloteni ena omwe amagwira ntchito ndi TBX5.

Kodi matendawa amapezeka bwanji molondola? (Kuzindikira)

Dokotala angaganize kuti Holt-Oram syndrome imayamba atamuyeza thupi lake komanso mbiri ya banja lake. Kenako, angachite mayeso angapo kuti atsimikizire vutoli, monga:

• Kujambula zithunzi zachipatala: Zinthu monga X-ray ya manja anu, zikhatho, ndi manja.
• Echocardiogram (Echocardiogram - echo): Izi zimatenga zithunzi za mtima kuti zione ngati pali vuto lililonse ndi kapangidwe kake kapena momwe amagwirira ntchito. Zili ngati scan ya mtima pogwiritsa ntchito ultrasound.
• Electrocardiogram (ECG kapena EKG): Izi zimayesa ntchito yamagetsi ya mtima wanu. Izi zikutanthauza kuyang'ana kamvekedwe ndi liwiro la kugunda kwa mtima wanu.
• Kuyesa majini: Kuyesa kumeneku kumachitika pofuna kutsimikizira ngati pali kusintha kwa majini. Izi nthawi zambiri zimachitika poyesa magazi.

Anthu ena amapezeka ndi matenda a Holt-Oram ali makanda . Ena amapezekanso akakula . Izi zingachitike akakhala ndi zizindikiro za mtima kapena akapezeka kuti mafupa awo ndi olakwika mwangozi panthawi yoyezetsa matenda ena. Mwachitsanzo, munthu angapite kwa dokotala ali ndi vuto lopuma ndipo mwadzidzidzi angapeze dzenje mumtima mwake kapena mafupa awo ndi olakwika m'manja mwake.

Kodi pali chithandizo cha izi? (Chithandizo)

Kunena zoona, pakadali pano palibe mankhwala a Holt-Oram Syndrome. Komabe, chithandizo chimadalira zizindikiro zomwe muli nazo komanso momwe zilili zoopsa. Musadandaule, pali zinthu zambiri zomwe mungachite kuti muchepetse zizindikiro zanu ndikupangitsa moyo wanu kukhala wosavuta.

Anthu ena ali ndi zizindikiro zochepa kwambiri ndipo safuna chithandizo chapadera. Koma ena amafunika chithandizo chamankhwala chambiri . Zolinga zazikulu za chithandizo ndi kubwezeretsa kugwiritsa ntchito dzanja ndi mkono momwe zingathere komanso kupewa mavuto omwe angachitike mumtima.

Chithandizo chingaphatikizepo izi:

• Mankhwala oletsa kupweteka kwa mtima ndi mankhwala omwe amayang'anira kugunda kwa mtima ndi kamvekedwe kake.
• Kuyika chipangizo chachipatala, monga pacemaker, kuti chiwongolere kugunda kwa mtima ndi kamvekedwe kake.
• Opaleshoni yokonza dzenje mumtima.
• Konzani zolakwika za mafupa mwa kuvala zomangira mafupa kapena kuchitidwa opaleshoni.
• Kuyika ziwalo zopanga (zopangira) kuti zilowe m'malo mwa ziwalo zomwe zasowa pa dzanja kapena mkono.

Munthu amene ali ndi vutoli angafunike thandizo la akatswiri angapo. Izi zikutanthauza kuti chithandizo chimaperekedwa ndi gulu limodzi, osati dokotala mmodzi yekha. Gululi likhoza kuphatikizapo:

• Akatswiri a matenda a mtima ndi opaleshoni ya mtima: Akatswiri a matenda a mtima.
• Madokotala a mafupa: Akatswiri a matenda a mafupa .
• Madokotala a ana: Madokotala omwe amachiritsa matenda mwa ana.
• Akatswiri a zamaganizo: Anthu omwe amathandiza anthu kuchita ntchito za tsiku ndi tsiku monga kudya ndi kulemba mosavuta.
• Akatswiri a zamaganizo: Anthu omwe amathandiza kulimbitsa ziwalo za thupi zomwe zili ndi vuto ndikuwongolera ntchito yawo.

Tsopano taonani, mothandizidwa ndi anthu onsewa, wodwalayo amalandira chithandizo chomwe akufunikira kuti akhale ndi moyo wabwino kwambiri.

Kodi moyo udzakhala bwanji ndi vutoli? (Maganizo/Zolosera)

Matenda a Holt-Oram Syndrome amakhudza anthu osiyanasiyana . Izi zikutanthauza kuti si onse omwe ali ofanana. Anthu ena ali ndi vuto laling'ono m'manja mwawo ndipo amatha kugwira ntchito bwino popanda zofooka zilizonse zakuthupi. Koma ena akhoza kukhala ndi mavuto aakulu a mafupa .

Komabe, pafupifupi 75% ya anthu omwe ali ndi vutoli ali ndi vuto lobadwa nalo mumtima . Anthu ena alibe zizindikiro zilizonse ndipo amangofunika kupita kwa dokotala wa mtima nthawi zonse kuti akawayang'anire. Komabe, vuto lina la mtima likhoza kukhala loopsa ndipo limafuna opaleshoni. Ndicho chifukwa chake ndikofunikira kwambiri kutsatira malangizo a dokotala wanu molondola.

Kodi izi zingapewedwe?

Matenda a Holt-Oram nthawi zambiri amayamba chifukwa cha kusintha kwa majini, kotero sangapewedwe kotheratu . Ngati muli ndi vutoli ndipo mukutenga mimba, mwana wanu ali ndi mwayi wa 50% wopatsira kusintha kwa majini . Izi zikutanthauza kuti mwana m'modzi mwa awiri adzakhala ndi vutoli. Komabe, kuyezetsa majini a mwana asanabadwe kumatha kuzindikira kusintha kwa majini. Dokotala wanu angakulimbikitseninso upangiri wa majini kwa achibale anu apamtima. Izi zithandiza kuphunzitsa achibale ena za vutoli ndikuwatsogolera kuti akayezedwe ngati pakufunika kutero.

Kodi ife monga banja tingatani kuti tigwirizane ndi vutoli?

Pakakhala kusintha kwa maonekedwe, makamaka mwa ana, amatha kuchita manyazi komanso kudziona ngati osafunika . Zingakhudzenso ubale wawo ndi anthu. Nazi zina zomwe mungachite kuti muthandize pa nthawi ngati iyi:

• Pitani kwa katswiri wa zamaganizo : Mwana wanu angapeze thandizo pomvetsetsa ndikuwongolera momwe akumvera.
• Kambiranani momasuka ndi mwana wanu za vutoli: Mufotokozereni mwachidule, m'njira yomwe angamvetse. Nenani zinthu monga, "Muli ndi kusiyana pang'ono m'dzanja lanu, ndi chinthu chomwe munabadwa nacho, ndipo si vuto lanu."
• Uzani anthu omwe mwanayo ali pafupi: Uzani aphunzitsi, abwenzi, ndi achibale za vutoli kuti nawonso athe kuthandiza mwanayo.
• Lowani nawo gulu lothandizira kapena bungwe lolimbikitsa anthu: Izi zikuthandizani kukumana ndi mabanja ena omwe akukumana ndi vuto lomweli ndi inu ndikugawana zomwe mwakumana nazo.
• Onetsetsani kuti mwana wanu ali ndi dongosolo kusukulu lomuthandiza kuti aphunzire komanso kuti azikhala ndi anthu ena, osazunzidwa: Lankhulani ndi aphunzitsi ndipo onetsetsani kuti mwachita izi.
• Yesetsani kuyankha mafunso wina akakufunsani za izi: Mwachitsanzo, mutha kuyesa kupereka yankho losavuta monga, "Ndinabadwa ndi fupa la dzanja losiyana ndi la wina aliyense."

Matenda a Holt-Oram ndi matenda omwe amayambitsa matenda a mafupa m'manja, m'manja, ndi m'manja, komanso matenda a mtima. Ngati mwana wanu ali ndi matendawa, madokotala angakupatseni njira zowongolera magwiridwe antchito a manja ndi m'manja ake . Angathenso kuunika achibale ena kuti apewe mavuto ochokera ku matenda a mtima.

Pomaliza, zomwe muyenera kukumbukira (Uthenga Wopita Nawo Kunyumba)

Matenda a Holt-Oram ndi matenda ovuta komanso osowa. Komabe, ndikofunikira kudziwa za matendawa, makamaka ngati wina m'banja mwanu ali ndi vuto losadziwika bwino la manja kapena mtima . Kumbukirani, mukazindikira vutoli msanga, zimakhala zosavuta kupeza chithandizo ndi chithandizo chomwe mukufuna kuti muthane nalo.

Musamadzimve kuti ndinu nokha. Mothandizidwa ndi madokotala, akatswiri azachipatala, ndi magulu othandizira, mutha kuthana ndi vutoli bwino. Chofunika kwambiri ndikutsatira upangiri woyenera wazachipatala ndikukhala ndi malingaliro abwino.

Ngati muli ndi mafunso ena okhudza izi, musazengereze kulankhula ndi dokotala wanu. Adzakupatsani zonse zomwe mukufuna.

Matenda a Holt -Oram, matenda a manja, matenda a mtima, kusintha kwa majini, zilema zobadwa nazo, mavuto a mafupa