Mwana wako ane dambudziko rekukura kwehuropi here? Dzidza nezve Holoprosencephaly (HPE)

Mashoko haagone kuratidza mufaro nerudo rwatinonzwa patinotarisa mwana achangoberekwa, handiti? Asi dzimwe nguva, vacheche vedu vanogona kuuya munyika ino vaine matambudziko ehutano atisingatarisiri. Nhasi, tichataura nezvehurema hwekuzvarwa nahwo hwakaoma zvishoma, asi hwatinofanira kuziva.

Chii chinonzi Holoprosencephaly (HPE)?

Zvichitaurwa zviri nyore, Holoprosencephaly, inozivikanwawo seHPE, chirwere chekuzvarwa nacho chinoitika mwana achiri mudumbu. Uku ndiko kutadza kuzvarwa nako. Mumamiriro ezvinhu aya, uropi hwemwana ari mudumbu hahuparadzani zvakanaka kuita zvikamu zverudyi nekuruboshwe pahunokura. Waizviziva here kuti uropi hwedu hunowanzo patsanurwa kuita zvikamu zviviri zvikuru, chikamu cherudyi nechikamu chekuruboshwe. Zvikamu zviviri izvi zvakabatana uye zvinopanana ruzivo kuburikidza netsinga dzinonzi corpus callosum. Zvakare, chimwe nechimwe chezvikamu izvi chakapatsanurwa kuita zvimwe zvikamu, zvakaita sechikamu chepamberi, chikamu cheparietal, chikamu cheoccipital, nechikamu chenguva.

Kupatsanurwa uku kwehuropi kuita zvikamu kwakakosha zvikuru. Nekuti kupatsanurwa uku kunobatsira huropi kugadzirisa ruzivo rwakawanda panguva imwe chete uye kuita mabasa akasiyana. Saka, sezvakaitika ku `(HPE)`, kana kupatsanurwa uku kukasaitika uropi huchiri kukura zvakanaka, kunogona kukonzera matambudziko akawanda ane chekuita nemuviri uye tsinga.

Dambudziko iri, rinonzi 'HPE', rinoitika pakutanga kwekukura kwemwana ari mudumbu. Izvi zvinoreva kuti rinogona kuitika usati waziva kuti une pamuviri. Kune mhando dzakasiyana dze holoprosencephaly, uye kuoma kwadzo nezviratidzo zvinosiyana. Mabatiro anoita chirwere ichi mwana wega wega anogonawo kusiyana.

Ndedzipi mhando huru dze holoprosencephaly (HPE)?

Kune mhando nhatu huru dze holoprosencephaly (HPE). Ngatizvitarisei kubva pane dzakanyanya kusvika pane dzisina kunyanya kuoma:

Alobar holoprosencephaly

Urwu ndirwo rudzi rwakanyanya kuoma . Chinoitika pano ndechekuti uropi hwemwana asati aberekwa hahuparadzanise kuita zvikamu zviviri zvachose. Nekuda kweizvozvo, maumbirwo ari pakati peuropi nechiso anorasika, uye maburi europi anobatana. Pamwe chete neizvi, kuremara kwakanyanya kwechiso kunoonekwa. Kazhinji, vacheche vane rudzi urwu rwe '(HPE)' vanozvarwa vakafa kana kufa nguva pfupi mushure mekuzvarwa.

Semilobar holoprosencephaly

Murudzi urwu, uropi hwemwana ari mudumbu hunongopatsanurwa zvishoma kuita ma hemispheres maviri . Izvi zvinoitika nekuti divi rekuruboshwe reuropi rakabatana nedivi rekurudyi munzvimbo dzinonzi ``frontal lobes``` ne``parietal lobes``. Zvakare, mutsetse unoparadzanisa pakati pema hemispheres ekurudyi nekuruboshwe europi, ``interhemispheric fissure,`` uri kumashure kweuropi chete.

Lobar holoprosencephaly

Murudzi urwu, uropi hwemwana ari mudumbu hwakakamurwa kuita ma hemispheres maviri., asi hazvina kuparadzaniswa zvachose. Kunyangwe paine ma hemispheres maviri (kurudyi nekuruboshwe), ma hemispheres europi akabatana pamwe chete mu ``frontal cortex``. Iyi ndiyo mhando isina kunyanya kuoma ye``(HPE)``.

Mhando yeMiddle Interhemispheric (MIH)

Pamusoro pemhando nhatu huru idzi, kune imwe mhando yechina inonzi Middle Interhemispheric (MIH). Apa ndipo panobatanidzwa uropi hwemwana ari mudumbu pakati.

Ndeupi musiyano uripo pakati pe hydranencephaly ne holoprosencephaly?

Ungangovhiringidzika nemazita maviri aya. Hydranencephaly neholoprosencephaly zvese zvirema zvekuzvarwa nazvo zvinokanganisa uropi hwemwana, asi pane musiyano pakati pazvo zviviri.

Hydranencephaly kurasikirwa nechikamu cheuropi hwemwana wako. Ichi chirwere chisingawanzoitiki chinonzi hydrocephalus (musoro wemvura). Vacheche vane chirwere ichi vanowanzova nemusoro wakakura.

Zvisinei, Holoprosencephaly inguva apo uropi husingaparadzanise zvakanaka kuita hemispheres dzerudyi nedzeruboshwe panguva yekukura kwemwana ari mudumbu. Unonzwisisa musiyano iwoyo here?

Chirwere ichi chinobata ani? Chinowanzoitika sei?

Holoprosencephaly (HPE) chirwere chinokanganisa vana vari mudumbu. Chinowanzoitika muvhiki yechipiri neyechitatu yekukura kwemwana ari mudumbu. Izvi zvinoreva kuti kazhinji usati watomboziva kuti une pamuviri.

Vaongorori vanofungidzira kuti holoprosencephaly inokanganisa mwana mumwe chete pavana mazana maviri nemakumi mashanu panguva yekutanga kwekukura kwemwana (vhiki yechipiri neyechitatu yekuzvitakura). Zvisinei, mimba zhinji idzi dzinoguma nekubviswa kwepamuviri kana kuzvarwa kwemwana akafa.

Saka, holoprosencephaly chirwere chisingawanzoitiki muvana vanozvarwa vari vapenyu, chinoitika muvana vanenge 1 pavana 16,000 vanozvarwa vari vapenyu.

Ndezvipi zviratidzo zve holoprosencephaly (HPE)?

Nekuti kune mhando dzakasiyana dze holoprosencephaly (HPE), kuomarara uye zviratidzo zvinogona kusiyana zvakanyanya. Izvi zvinoreva kuti zviratidzo izvi zvinogona kusiyana kubva pamwana mumwe kuenda kune mumwe.

Zviratidzo zvakajairika

Zviratidzo zvinowanzoonekwa zvine chekuita neHPE zvinosanganisira:

• Kunonoka kukura kwemwana.
• Kuremara kwepfungwa.
• Pfari nepfari.
• Kuva nemusoro mudiki (microcephaly).
• Kuva nemusoro mukuru (macrocephaly).
• Kuwanda kwemvura muuropi (hydrocephalus).
• Kusarongeka kwechiso .
• Zvisina kumira zvakanaka pamazino (semuenzaniso, kuva nekanzuru imwe chete yepakati).
• Muromo wakachekwa uye/kana mukanwa.
• Kuomerwa nekudzora tembiricha yemuviri, kurova kwemoyo, uye kufema.
• Kuomerwa nekudya.

Hunhu hweAlobar HPE

Urwu ndirwo rudzi rwakanyanya kuoma, saka zviratidzo zvacho zvakanyanya kuoma:

• Kuva neziso rimwe chete (cyclopia), kuva nemaziso akabatana zvakanyanya (ethmocephaly), kana kusava nemaziso zvachose (anophthalmia).
• Kuva nemaziso madiki (microphthalmia) uye mhino yakaita sechubhu (proboscis).
• Mhino yakati sandara ine maziso akavharika (orbital hypotelorism) kana muromo wakatsemuka unoitika pakati pemuromo (median cleft lip) kana kumativi ese (bilateral cleft lip).

Hunhu hweSemilobar HPE

• Maziso akataramukana (orbital hypotelorism), mboni dzemaziso diki kwazvo (microphthalmia), kana ziso rimwe kana kupfuura (anophthalmia).
• Kutambanuka kwebhiriji nemuromo wemhino.
• Mhino imwe chete.
• Muromo wepakati wakatsemuka kana muromo wakatsemuka kumativi maviri.
• Mukanwa wakaoma.

Hunhu hweLobar HPE

Urwu ndirwo rudzi rusina kunyanya kuoma, asi unogona kuona zviratidzo izvi:

• Muromo wakatsemuka kumativi maviri.
• Kuswedera pedyo kwemaziso.
• Mhino yakati sandara kana kuti yakanyura.

Dambudziko iri, rinonzi holoprosencephaly, rinogonawo kuitika sechikamu chezvirwere zvakasiyana-siyana zvemajini. Rimwe nerimwe rezvirwere izvi rine zviratidzo zvaro zvakasiyana.

Chii chinokonzera holoprosencephaly (HPE)?

Kazhinji, uropi hwemwana ari mudumbu hunopatsanuka kuita zvikamu zviviri pakutanga kwekukura. Holoprosencephaly (HPE) inoitika kana chikamu chepamberi cheuropi, prosencephalon, chisingaparadzanise zvakanaka kuita zvikamu zverudyi nekuruboshwe. Kureva kuti, pachinzvimbo chekuti mativi ekuruboshwe nerudyi echikamu chepamberi cheuropi aparadzane zvachose, pane kubatana kusingawanzoitiki pakati pezviviri izvi.

Kunyanya, holoprosencephaly inogona kukonzerwa ne:

• Kuchinja-chinja kunoitika mumajini akasiyana anosvika gumi nemana .
• Kusarongeka kwema chromosome .
• Mamwe masyndromes ekuberekwa .

Zvisinei, muzviitiko zvakawanda, vanachiremba havagoni kuwana chikonzero chaicho.

Kuchinja kwemajini

Kuchinja kwemajini kuchinja kweDNA yako. Kutevedzana uku kweDNA kunopa masero ako ruzivo rwaanoda kuti aite mabasa awo. Saka, kana chikamu cheDNA chisina kukwana kana kuti chakakuvara, unogona kuona zviratidzo zvechirwere chemajini.

Mwana anogona kugara nhaka yekuchinja kwemajini kubva kumubereki mumwe chete kana vese, zvichienderana nekuti kuchinja uku kunopfuudzwa sei. Zvisinei, mamwe machinjiki anoitikawo zvisina tsarukano, zvichireva kuti hapana mumhuri ane nhoroondo yekuchinja uku.

Masayendisiti akabatanidza kuchinja kwemajini anotevera nemamiriro ezvinhu (HPE):

• `SHH`
• ``TARISA 3``
• `TGIF1`
• `ZIC2`
• `PTCH1`
• `FOXH1`
• `NODAL`
• `CDON`
• `FGF8`
• `GLI2`

Kuchinja uku kunoita kuti majini nemapuroteni avanoburitsa asashande zvakanaka. Izvi ndizvo zvinokanganisa kukura kwehuropi hwemwana ari mudumbu uye zvinokonzera holoprosencephaly.

Kusarongeka kwema chromosome

Tose tine machromosomes makumi mana nematanhatu mumasero edu, akarongwa muzvikamu makumi maviri nematatu. Machromosomes aya ane DNA yedu. Zvichitaurwa zviri nyore, ane mirairo yekuti miviri yedu ikure uye ishande. Tinowana seti imwe yemachromosomes kubva kuna amai vedu uye seti imwe kubva kuna baba vedu.

Chikamu chimwe muzvitatu chevana vanoberekwa ne holoprosencephaly vane chirwere chechromosome chisina kujairika. Chirwere chechromosome chinowanzobatanidzwa neHPE kuvapo kwemakopi matatu echromosome 13, inozivikanwa se trisomy 13. Trisomy 18 (makopi matatu echromosome 18) uye triploidy (kuvapo kwemachromosome 69 musero panzvimbo pe46 yakajairika) zvinogonawo kukonzera HPE.

Zviratidzo zvemajini

Dzimwe nguva holoprosencephaly inogona kuitika sechikamu chemamwe majini syndromes anokonzera mamwe matambudziko ehutano pamusoro peHPE.

Mamwe ezvirwere zvemajini zvine chekuita neHPE ndeaya:

• (Hartsfield syndrome)`
• `(Kallman syndrome yechipiri)`
• `(Steinfeld syndrome)`
• (chirwere cheSmith-Lemli-Opitz)`
• `(Stromme syndrome)`

Holoprosencephaly (HPE) inoonekwa sei?

Vanachiremba vanogona kazhinji kuongorora holoprosencephaly (HPE), kunyanya zvirwere zvakakomba, mwana asati aberekwa, vachishandisa ultrasound scan yemwana asati aberekwa. Dambudziko iri rinogonawo kuongororwa mwana asati aberekwa ne fetal MRI (Magnetic Resonance Imaging scan).

Kunyangwe bvunzo idzi dzekufungidzira pamuviri dzichigona kuona HPE, HPE inowanzoonekwa mushure mekuzvarwa kwemwana , apo matambudziko echiso kana etsinga anotanga kuoneka. Kuongororwa kwemifananidzo yemusoro kunozoitwa kuti kusimbiswe chirwere chacho.

Vacheche vane mhando dzisina kunyanya kuoma dze holoprosencephaly vanogona kusaonekwa kusvika vava negore rimwe chete. Muzviitiko zvakadaro, kunonoka kukura kwemwana kunogona kuva chiratidzo chekuti panogona kunge paine dambudziko netsinga. Vanachiremba vanobva varaira kuti vaongororwe mifananidzo yeuropi.

Kuongororwa kwezvirwere

Vanachiremba vanoshandisa bvunzo dzinotevera dzekuongorora holoprosencephaly mushure mekuzvarwa kwemwana:

• Ultrasound yemusoro: Ultrasound (inonziwo sonography) ibvunzo yekufungidzira isingarwadzi, isingapindi muropa inoshandisa mafungu eruzha ane ruzha rwakawanda kugadzira mifananidzo mhenyu kana mavhidhiyo enyama dzakadai senhengo dzemukati kana tsinga dzeropa.
• Kuongororwa kweuropi nemagnetic resonance imaging (MRI):Kuongororwa kweMRI inzira yekuedza isingarwadzi. Inogona kuburitsa mifananidzo yakajeka yezvimiro nematishu ari muuropi hwemwana wako. MRI inoshandisa magineti makuru, mafungu eredhiyo, uye komputa. Haishandisi X-ray (radiation).
• Kuongororwa kwemusoro nekombiyuta inonzi CT scan: Kuongororwa kweCT scan inzira inoshandiswa pakuongorora X-rays nekombiyuta kugadzira mifananidzo yakawanda yemuviri wemunhu ari kuongororwa (munyaya iyi, musoro nepfungwa zvemwana wako).

Kana zvichibvira, vanachiremba vachaita zvidzidzo zveDNA, kusanganisira ongororo yechromosome, cytogenetic uye molecular tests, kuti vaone chikonzero chaicho cheHPE.

Kana kuongororwa kwemajini kunoratidza dambudziko remachromosome kana majini rine chekuita neholoprosencephaly, chiremba wako anogona kukukurudzira kuti utsvage mazano emajini kana uchironga kuva nemumwe mwana.

Ndeipi mishonga yekurapa holoprosencephaly (HPE)?

Zvinosuwisa kuti parizvino hapana mushonga kana mushonga mukuru wechirwere cheholoprosencephaly (HPE). Pane kudaro, vanachiremba vanorapa mwana wega wega neHPE zvichienderana nezviratidzo zvake. Izvi zvinoreva kuti nzira dzekurapa dzinosiyana kubva kumwana kuenda kumwana.

Kurapa uku kungada kushanda pamwe chete kwechikwata chenyanzvi dzakasiyana, kusanganisira:

• Vanachiremba vevana
• Vanachiremba vetsinga
• Vanachiremba veEndocrinologists
• Vanachiremba vepurasitiki
• Varapi vezvemabasa nemuviri
• Chikwata chekuchengetedza varwere vane marwadzo ekurwadziwa
• Chikwata chekutarisira vanhu vakakomba

Vanhu vakadaro vanogona kubatanidzwa.

Kurapa kwakajairika

Heano mamwe emishonga inonyanya kushandiswa yeHPE:

• Mishonga yekudzivirira pfari yekudzivirira, kuderedza, kana kudzora pfari.
• Kana mwana wako aine hydrocephalus, inogona kurapwa ne ventriculoperitoneal (VP) shunt.
• Mishonga uye kurapwa kwemuviri kunogona kubatsira nezvirwere zvekufamba zvakaita sekuoma kwetsandanyama (spasticity) uye kufamba kusingatarisirwi (dystonia).
• Kuvhiyiwa kwepurasitiki kwekubvisa miromo yakachekwa kana kuti mamwe mavara ekumeso.
• Mishonga yekurapa kusawirirana kwemahormone mu pituitary gland.
• Kutora matanho ekuvandudza kudya kunovaka muviri kwevana vane matambudziko ekudya. Semuenzaniso, kudya nepachubhu kuenda mudumbu (gastrostomy tube - G-tube).

Zvese izvi zvinoitirwa kupa mwana hupenyu hwakanaka.

Holoprosencephaly (HPE) inogona kudzivirirwa here?

Zvinosuwisa kuti holoprosencephaly (HPE) inoitikaNyaya zhinji hadzigone kudzivirirwa. Izvi zvinokonzerwa nekuti dzinowanzo kukonzerwa nematambudziko emajini "akavanzika". Kana uchironga kuva nemwana, zvakanaka kutaura nachiremba wako nezvekuongororwa kwemajini kuti unzwisise njodzi yemwana wako yekuve nechirwere chemajini kana kushanduka kwemajini, senge HPE.

Zvisinei, masayendisiti akaona zvimwe zvinhu zvinogona kuwedzera mukana wekuti mwana ari mudumbu awane holoprosencephaly. Izvi zvinosanganisira:

• Kuva nechirwere cheshuga: Kana waiva nechirwere cheshuga cherudzi rwekutanga kana rwechipiri usati wava nepamuviri, unogona kunge uri panjodzi yakakura yekuva nemwana ane HPE. Izvi hazvifanirwe kuvhiringidzwa nechirwere cheshuga chepamuviri, chinoitika panguva yekuzvitakura.
• Kushaikwa kweFolate (folic acid): Folate, rudzi rwechisikigo rwevhitamini B9, rwakakosha pakukura kwakanaka kwemwana ari mudumbu, kunyanya uropi nemusana. Kushaikwa kweFolate usati wava nepamuviri uye panguva yekuzvitakura kunogona kuwedzera njodzi yekubereka mwana ane HPE.
• Kusangana ne teratogens: Teratogens zvinhu zvinokonzera matambudziko mukukura kwemwana ari mudumbu uye zvinotungamira kukuremara kwekuzvarwa. Kusangana ne teratogens, dzakadai se ethanol (doro), retinoic acid, uye mycotoxins (chepfu yemould) kubva muchikafu, zvinogona kuwedzera njodzi yekubereka mwana ane holoprosencephaly.

Saka, zvakakosha zvikuru kutevedzera mararamiro ane hutano, kudya chikafu chakakwana, uye kutevedzera mazano echiremba panguva yekuzvitakura uye usati waita pamuviri.

Chii chinonzi fungidziro ye holoprosencephaly (HPE)?

Maonero, kana kuti fungidziro, ye holoprosencephaly (HPE) anosiyana zvichienderana nekuoma kwechirwere uye chikonzero chaicho.

Maonero eHPE iri pakati nepakati kusvika yakanyanya kuipa anowanzova asina kunaka. Vana vashoma vane HPE iri pakati nepakati kusvika yakanyanya vanorarama kusvika vakura. Vana vane HPE iri pakati nepakati vanowanzorarama kusvika vakura, asi vanowanzofanira kurarama nematambudziko ehutano ane chekuita neHPE.

Vana vazhinji vane holoprosencephaly vanoda mishonga yezuva nezuva uye kurapwa kudzivirira pfari uye kurapa mamwe matambudziko.

Tarisiro yehupenyu

Nguva yekurarama kwemunhu ane holoprosencephaly (HPE) inoenderana nerudzi rweHPE yaanayo uye chikonzero chechirwere ichi.

Vacheche vane Alobar HPE (rudzi rwakanyanya kuoma) vanowanzofa vachiberekwa vakafa, kungava nguva pfupi mushure mekuzvarwa kana mukati memwedzi mitanhatu yekutanga yehupenyu.

Vana vanopfuura 50% vane semilobar kana lobar HPE, uye vasina zvimwe zvirwere zvenhengo, vanorarama kwemwedzi gumi nemiviri.

Vana vane zvirwere zveHPE zvishoma vanowanzorarama kusvika vakura.

Kana mwana wangu aine holoprosencephaly (HPE), chii chandinofanira kutarisira?

Izvi zvakakosha zvikuru. Yeuka kuti hapana vana vaviri vane holoprosencephaly (HPE) vanobatwa nenzira imwecheteyo. Hapana nzira yekuziva zvechokwadi kuti mwana wako achabatwa sei. Chinhu chakanakisa chaunogona kuita kugadzirira remangwana ndechekutaura nenyanzvi dzinoongorora nekurapa holoprosencephaly. Vanogona kukupa rumwe ruzivo nezveizvi.

Ndingachengeta sei mwana wangu ane holoprosencephaly (HPE)?

Kuti ubatsire kutarisira mwana wako ane holoprosencephaly (HPE), tevera mazano aya kubva kuna vanachiremba vavo:

• Ipai chero mishonga yakanyorwa sezvakarairwa.
• Tarisa kuti uwane kuongororwa kwekukura uye kurapwa.
• Iva nechokwadi chekuenda kunoona chiremba wako nguva dzose.

Holoprosencephaly inogona kukonzera matambudziko ekufunga, etsinga, uye/kana ekufamba kwemuviri. Vana vazhinji vane HPE vane matambudziko ekukura uye vangangoda rubatsiro mumabasa ezuva nezuva muhupenyu hwavo hwese.

Chikwata chevanachiremba chemwana wako chinogona kupindura mibvunzo yako uye kukupa rutsigiro. Vanogonawo kukutungamira kumapoka ekutsigira munharaunda yako kana online. Yeuka kuti hausi wega.

Ndinofanira kuona chiremba wemwana wangu rini?

Kana mwana wako akaonekwa aine chirwere cheholoprosencephaly (HPE), anofanira kuonana nechikwata chake chekurapa nguva nenguva kuti ave nechokwadi chekuti kurapwa kwake kuri kushanda uye kuti vaongorore kufambira mberi kwake mukukura.

Kuziva kuti mwana wako ane holoprosencephaly kunogona kuoma. Asi ziva kuti hausi wega. Kune zvinhu zvakawanda zviripo zvekukubatsira iwe nemhuri yako. Zvakakosha kutaura nachiremba ane ruzivo nezvechirwere ichi. Izvi zvichakubatsira kudzidza zvakawanda nezvekuti mwana wako achabatwa sei uye kuti ungagadzirira sei.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Holoprosencephaly (HPE) chirwere chakaoma chekuzvarwa nacho chinoitika kana uropi hwemwana hukasapatsanurwa zvakanaka kuita zvikamu zviviri zviri mudumbu.

• Kune mhando dzakasiyana uye mwero wekuoma kwechirwere , saka zviratidzo zvinosiyana kubva pamwana kusvika pamwana.
• Kazhinji zvikonzero zvemajini uye kusarongeka kwemakromosomu zvinosanganisirwa, asi dzimwe nguva chikonzero hachiwanikwe.
• Kunyangwe ichigona kuonekwa mwana asati aberekwa ne ultrasound kana MRI, inowanzoonekwa chete mushure mekuzvarwa.
• Hakuna mushonga chaiwo , asi kune nzira dzakasiyana-siyana dzekurapa dzinodzora zviratidzo uye kutsigira mwana.
• Maonero acho anosiyana zvichienderana nekuoma kwechirwere ichi. Muzviitiko zvisina kunyanya kuoma, vana vanogona kurarama kusvika vakura.
• Kana uine pamuviri kana kuti uchironga kubata pamuviri, chenjerera zvinhu zvakaita sekudzora chirwere cheshuga uye kutora folic acid.
• Hausi wega uri mumamiriro ezvinhu akadai. Unogona kuwana rubatsiro kubva kuna vanachiremba, vapi vemazano, uye mapoka ekutsigira. Ruzivo rwakarurama nerutsigiro zvakakosha zvikuru.

Holoprosencephaly , HPE, matambudziko europi, zvirema zvekuzvarwa, kukura kwemwana asati aberekwa, zvirwere zvemajini, kusagadzikana kwemakromosomu, hutano hwepamuviri, hutano hwemwana