Uri kusangana nematambudziko nemaoko ako nemoyo here? Pamwe iHolt-Oram Syndrome!

Dzimwe nguva tine zvirwere zvatisingatombofungidzire, handiti? Nhasi tichataura nezvechirwere chisingawanzoitiki, asi chakakosha kuziva nezvacho. Kana uine matambudziko emwoyo wako pamwe chete nekutadza kushanda zvakanaka muruoko rwako, paruoko kana paruoko, chikonzero chacho chingave 'Holt-Oram Syndrome'. Usazvidya moyo, ngatitaurei nezvazvo zvakadzama.

Chii chinonzi Holt-Oram Syndrome?

Zvichitaurwa zviri nyore, chirwere cheHolt-Oram chirwere chisingawanzoitiki, chinongoitika pakuzvarwa nacho . Chinonyanya kukanganisa mapfupa emaoko ako, maoko, pamwe nemoyo wako. Fungidzira, vamwe vanhu vanogona kunge vaine zvimwe zvinhu zvisina kumira zvakanaka mumapfupa eruoko rumwe. Chingave chiri kudivi rimwe chete, kana kuti chingave chiri kumativi ese. Vamwe vanhu vangave vasina munwe, kana kuti chigunwe chavo chingave chakareba semamwe minwe. Kwete izvozvo chete, chinogonawo kuuya nematambudziko emwoyo. Zvirwere zvemwoyo izvi zvinogona kunge zviri kukanganisa chimiro chemwoyo, kana kuti pangave nekusarongeka kwemagetsi anodzora kurova kwemoyo. Chirwere ichi chinodanwawo nemamwe mazita akati wandei, semuenzaniso `(Atrio-digital dysplasia)`, `(Cardiac-limb syndrome)`, kana `(Heart-hand syndrome, type 1)`. Asi zita rinonyanya kushandiswa ndiHolt-Oram Syndrome.

Ndezvipi zviratidzo zvechirwere ichi?

Zviratidzo zveHolt-Oram Syndrome zvinogona kusiyana kubva pamunhu kuenda kune mumwe . Kune vamwe vanhu, zviratidzo izvi zvingasanyatsooneka kuti zvionekwe. Muzviitiko zvakadaro, vanachiremba vanogona kuzviziva nemazvo nekuongororwa kwakakosha kwakadai sekuyedzwa kwe '(X-ray)`, `(CT scan)` (CT scan) kana `(MRI)` (MRI).

Matambudziko ane chekuita nemapfupa (maoko, maoko)

Kana uine chirwere cheHolt-Oram, rimwe remapfupa ako emaoko ringangodaro risina kukura zvakanaka . Pamusoro pezvo, ungave uine mamwe matambudziko emapfupa, akadai se:

• Zvisina kujairika mumapfupa emutsipa kana pamafudzi.
• Ruoko rwakakamurwa. Minwe inogonawo kuita seyakabatana.
• Kusakwanisa kutambanudza kana kutenderedza ruoko rwakakanganiswa zvizere.
• Kukombama kwemusana, zvakaita sekukombama (kyphosis) kana kukombama kwemusana parutivi (scoliosis).
• Kusavapo kwechigunwe chikuru, kana kuti chigunwe chikuru chirefu kupfuura zvimwe zvigunwe uye chakaiswa zvakasiyana.
• Kuvapo kwemapfupa mashoma chete paruoko kana kusavapo kwemapfupa.
• Kukundikana kwemapfupa epamusoro peruoko kukura zvakanaka.

Fungidzira, kana mwana mudiki aberekwa, haana chigunwe chikuru paruoko rumwe, kana kuti chakasiyana nezvimwe zvigunwe. Kana kuti zvakaoma kukotamisa ruoko zvakanaka. Aya ndiwo mamwe ematambudziko emapfupa atiri kutaura nezvawo.

Matambudziko emwoyo

NeHolt-Oram SyndromeVanhu vazhinji vane chimwe chirwere chemwoyo chisina kunaka. Chinonyanya kuitika iburi riri pamadziro rinoparadzanisa mativi ekuruboshwe nerudyi emwoyo, rinonzi septum. Kune mhando mbiri dzemaburi:

• Kukanganisika kwemasero eropa: Uku kuri pakati pemakamuri maviri epamusoro emoyo (atria).
• Kukanganisika kwetsinga dzemudumbu: Uku kuri pakati pemakamuri maviri (maventricles) ari pasi pemoyo.

Muchidimbu, moyo une makamuri mana. Maviri pamusoro uye maviri pasi. Chinoitika pano ndechekuti maburi anoumbwa mumadziro ari pakati pemakamuri aya. Zviratidzo zvinosiyana zvichienderana nehukuru hwemaburi aya.

Vamwe vanhu vanogonawo kuva nechirwere chemwoyo chinofambisa ropa. Izvi zvinokanganisa mashandiro emagetsi anodzora rhythm yemoyo. Izvi zvinogona kukonzera kurova kwemoyo kunonoka zvisingawanzoitiki (bradycardia) kana kurova kwemoyo kusingawanzoitiki (atrial fibrillation). Dambudziko iri rinogona kuvapo pakuzvarwa kana kukura nekufamba kwenguva. Saka zvakakosha kuti timu yako yezvekurapa iongorore izvi muhupenyu hwako hwese.

Chirwere chemwoyo chinobatanidzwa neHolt-Oram syndrome chinogonawo kukonzera zviratidzo zvakaita se:

• Kukundikana kubudirira.
• Kuneta zvakanyanya, kuneta.
• Kukwira kweropa mumapapu (pulmonary hypertension).
• Kushaya mweya.
• Kushaya mweya.

Sei Holt-Oram Syndrome ichiitika?

Kazhinji, chikonzero chikuru cheHolt-Oram syndrome kuchinja, kana kuti kuchinja, mujini rinonzi `TBX5` . Iri jini re`TBX5` rinogadzira puroteni inodiwa pakukura kwemakumbo ekumusoro (maoko, maoko) panguva yekukura kwemwana ari mudumbu. Zvakare, puroteni iyi inokosha pakupatsanura moyo kuita makamuri mana. Kutaura chokwadi, zvese zviri mumuviri wedu zvinodzorwa nemajini. Saka, matambudziko aya anomuka kana paine shanduko mujini iri.

Kuchinja kwemajini uku kwe 'TBX5' kunogona kupfuudzwa kubva kuchizvarwa kuenda kune chimwe (kwakagara nhaka) . Izvi zvinoreva kuti kana amai kana baba vane chirwere ichi, pane mukana wekuti mwana achava nachowo. Zvisinei, kazhinji, chirwere ichi chinoitika kana kuchinja kwemajini kutsva kukaitika pasina munhu mumhuri akambova nechirwere ichi . Izvi zvinoreva kuti chinogona kuitika pasina nhoroondo yemhuri.

Zvisinei, dzimwe nguva vanhu vane chirwere cheHolt-Oram havakwanise kuwana shanduko mujini reTBX5. Masayendisiti haasati anyatsonzwisisa kuti vanhu ava vanokura sei chirwere ichi. Vanofunga kuti zvinogona kunge zvichikonzerwa nekuchinja-chinja mune mamwe mapuroteni anoshanda neTBX5.

Chirwere ichi chinoongororwa sei nemazvo? (Kuongororwa)

Chiremba anogona kufungidzira kuti Holt-Oram syndrome mushure mekuongororwa muviri uye nhoroondo yemhuri. Zvadaro, vanogona kuita bvunzo dzinoverengeka kuti vasimbise chirwere ichi, dzakadai se:

• Mifananidzo yezvekurapa: Zvinhu zvakaita seX-ray yemaoko ako, maoko, nemaoko.
• Echocardiogram (Echocardiogram - echo): Izvi zvinotora mifananidzo yemoyo kuti zvionekwe kana paine matambudziko nechimiro chawo kana kushanda kwawo. Zvakafanana ne ultrasound scan yemoyo.
• Electrocardiogram (ECG kana EKG): Izvi zvinoyera mashandiro emagetsi emwoyo wako. Izvi zvinoreva kutarisa mutinhimira uye kumhanya kwekurova kwemoyo wako.
• Kuongororwa kwemajini: Kuongororwa uku kunoitwa kuti pave nechokwadi chekuti pane shanduko yemajini. Izvi zvinowanzoitwa nekutora ropa.

Vamwe vanhu vanoonekwa vaine chirwere cheHolt-Oram vachiri vacheche . Vamwe vanoonekwa gare gare muhupenyu hwavo . Izvi zvinogona kuitika kana vakava nezviratidzo zvemwoyo kana kana paine kukuvara kwemapfupa panguva yekuongororwa kwechiremba. Semuenzaniso, munhu anogona kuenda kuna chiremba nekushaya mweya wobva angoerekana awana buri mumoyo make kana kukuvara kwemapfupa muruoko rwake.

Pane mushonga weizvi here? (Kurapwa)

Kutaura chokwadi, pari zvino hapana mushonga weHolt -Oram Syndrome. Zvisinei, kurapwa kunoenderana nekuti zviratidzo zvaunazvo ndezvipi uye kuti zvakakomba sei. Usazvidya mwoyo, pane zvakawanda zvaunogona kuita kuti ugadzirise zviratidzo zvako uye kuti hupenyu hwako huve nyore.

Vamwe vanhu vane zviratidzo zvishoma uye havadi kurapwa kwakakosha. Asi vamwe vanoda kurapwa kwakawanda . Chinangwa chikuru chekurapa ndechekudzorera kushandiswa kweruoko neruoko zvakanyanya sezvinobvira uye kudzivirira matambudziko angangoitika mumoyo.

Kurapa kunogona kusanganisira zvinotevera:

• Mishonga inoderedza kurova kwemoyo (antiarrhythmic) imishonga inodzora kurova kwemoyo uye kurova kwemoyo.
• Kuisa mudziyo wekurapa, wakaita sepacemaker, kudzora kurova kwemoyo uye rhythm.
• Kuvhiyiwa kwekugadzirisa buri riri mumoyo.
• Gadzirisa mapfupa asina kunaka nekupfeka mabraces kana kuvhiyiwa.
• Kuisa zvikamu zvekugadzira (prosthetics) kuti zvitsive zvikamu zveruoko kana ruoko zvisipo.

Munhu ane chirwere ichi angangoda rubatsiro rwenyanzvi dzakasiyana-siyana. Izvi zvinoreva kuti kurapwa kunoitwa nechikwata chimwe chete, kwete chiremba mumwe chete. Chikwata ichi chinogona kusanganisira:

• Vanachiremba vemwoyo nevavhiyi vemwoyo: Nyanzvi dzezvirwere zvemwoyo.
• Vanachiremba vemapfupa: Nyanzvi dzezvirwere zvemapfupa .
• Vanachiremba vevana: Vanachiremba vanorapa zvirwere zvevana.
• Varapi vezvemabasa: Vanhu vanobatsira vanhu kuita mabasa ezuva nezuva akadai sekudya nekunyora zviri nyore.
• Varapi vemuviri: Avo vanobatsira kusimbisa nhengo dzemuviri dzine zvinhu zvisina kumira zvakanaka uye kuvandudza mashandiro adzo.

Zvino tarisai, nerubatsiro rwevanhu ava vese, murwere anowana rutsigiro rwaanoda kuti ararame hupenyu hwakanakisisa.

Hupenyu huchava hwakaita sei nemamiriro ezvinhu aya? (Maonero/Kufungidzira)

Kufanotaura kwevanhu vane Holt-Oram Syndrome kunosiyana-siyana . Kureva kuti, havasi vese vakafanana. Vamwe vanhu vane kakukanganisika kadiki mumaoko avo uye vanokwanisa kushanda zvakanaka vasina matambudziko emuviri. Asi vamwe vanogona kunge vaine matambudziko makuru emapfupa .

Zvisinei, vanhu vanosvika 75% vane chirwere ichi vane dambudziko rekuzvarwa naro mumoyo . Vamwe vanhu havana zviratidzo uye vanongoda kuona chiremba wemwoyo nguva nenguva kuti vaongororwe. Zvisinei, mamwe matambudziko emwoyo anogona kuisa upenyu panjodzi uye anoda kuvhiyiwa. Ndosaka zvichikosha kutevedzera mirairo yachiremba wako nemazvo.

Izvi zvinogona kudzivirirwa here?

Holt-Oram Syndrome inowanzo kukonzerwa nekuchinja kwemajini, saka haigone kudzivirirwa zvachose . Kana uine chirwere ichi wobva wava nepamuviri, mwana wako ane mukana we50% wekutapurirana chirwere ichi . Izvi zvinoreva kuti mwana mumwe chete pavana vaviri achave nechirwere ichi. Zvisinei, kuongororwa kwemajini epamuviri kunogona kuona kuchinja kwacho. Chiremba wako anogonawo kukurudzira mazano emajini kune nhengo dzemhuri yako dzepedyo. Izvi zvichabatsira kudzidzisa dzimwe nhengo dzemhuri nezvechirwere ichi uye kuvatungamira kuti vaongororwe kana zvichidikanwa.

Semhuri tingagadzirisa sei mamiriro ezvinhu aya?

Kana paine shanduko dzemuviri muchimiro, kunyanya muvana, vanogona kunyara uye kunzwa kusazviremekedza . Izvi zvinogonawo kukanganisa hukama hwavo nevanhu. Heano zvimwe zvinhu zvaunogona kuita kuti ubatsire panguva yakaita seiyi:

• Ona nyanzvi yehutano hwepfungwa : Mwana wako anogona kuwana rubatsiro rwekunzwisisa nekugadzirisa manzwiro ake.
• Taura pachena nemwana wako nezvechirwere ichi: Mutsanangurire zviri nyore, nenzira yaanogona kunzwisisa. Taura zvinhu zvakaita sekuti, "Une musiyano mudiki muruoko rwako, chinhu chawakazvarwa nacho, uye haisi mhosva yako."
• Udza vanhu vari pedyo nemwana: Udza vadzidzisi, shamwari, nehama nezvechirwere ichi kuitira kuti vagonewo kutsigira mwana.
• Joyina boka rekutsigira kana sangano renyika rinotsigira: Izvi zvichakubatsira kusangana nedzimwe mhuri dziri kusangana nematambudziko akafanana newe uye kugovana zvakaitika kwauri.
• Iva nechokwadi chekuti mwana wako ane hurongwa hwekumutsigira kuchikoro kuti adzidze uye ave neushamwari, asingashungurudzwe: Taura nevadzidzisi uye iva nechokwadi chekuti izvi zvinoitika.
• Dzidzira kupindura mibvunzo kana mumwe munhu akakubvunza nezveizvi: Semuenzaniso, unogona kudzidzira kupa mhinduro iri nyore yakaita sekuti, "Ndakazvarwa ndine pfupa reruoko rakasiyana nerevamwe vese."

Holt-Oram syndrome chirwere chinokonzera kusashanda zvakanaka kwemapfupa mumaoko, mumaoko, uye mumaoko, pamwe nechirwere chemwoyo. Kana mwana wako aine chirwere ichi, vanachiremba vanogona kupa mazano ekuvandudza mashandiro emaoko ake . Vanogonawo kuongorora dzimwe nhengo dzemhuri kuti vabatsire kudzivirira matambudziko anokonzerwa nekusashanda zvakanaka kwemoyo.

Pakupedzisira, zvekurangarira (Mharidzo Yekuenda Kumba)

Holt-Oram Syndrome chirwere chakaoma uye chisingawanzoitiki. Zvisinei, zvakakosha kuziva nezvacho, kunyanya kana mumwe munhu mumhuri yako aine matambudziko asingatsananguriki emaoko kana emwoyo . Yeuka, kana ukaziva chirwere ichi nekukurumidza, zvinova nyore kuwana kurapwa nerutsigiro rwaunoda kuti utsungirire.

Usambonzwa seuri wega. Nerubatsiro rwevanachiremba, varapi, uye mapoka ekutsigira, unogona kubudirira kubata nedambudziko iri. Chinhu chikuru ndechekutevera mazano ekurapa akakodzera uye kuramba uine mafungiro akanaka.

Kana muine mimwe mibvunzo nezvenyaya iyi, musazeza kutaura nachiremba wenyu. Vachakupai ruzivo rwese rwamunoda.

Holt -Oram Syndrome, kusashanda zvakanaka kwemaoko, chirwere chemwoyo, kushanduka kwemajini, kuremara kwekuzvarwa, matambudziko emapfupa