Mwana wako ane zviratidzo izvi here? Ngatikurukurei nezveJacobsen Syndrome

Wakaona here shanduko kana matambudziko pakukura kana chitarisiko chemwana wako? Dzimwe nguva, chirwere chisingawanzoitiki chakadai seJacobsen Syndrome chingave chiri kukonzera izvi. Usazvidya moyo, tichaita kuti zvese zvive nyore.

Chii chinonzi Jacobsen Syndrome?

Zvichitaurwa zviri nyore, Jacobsen Syndrome chirwere chisingawanzoitika chine chekuita nemachromosomes mumuviri wedu. Majini edu ari pamachromosomes aya. Mumamiriro ezvinhu aya, majini akati wandei anoshaikwa kana kubviswa kubva muchikamu chechromosome yedu 11. Kutaura chokwadi, majini aya anoshaikwa kubva kumagumo eruoko rurefu (q arm) rwechromosome iyi. Ndosaka ichinziwo 11q terminal deletion disorder.

Fungidzira, kana chidimbu chidiki chechromosome 11 chisipo, huwandu hwemajini anokanganiswa hunodzikirawo. Zvadaro zviratidzo zvinogona kudzikira zvishoma. Asi kana chikamu chikuru chisipo, zviratidzo zvinova zvakanyanya. Kana vamwe vanhu vaine chikamu chidiki chisipo nenzira iyi, inonzi partial Jacobsen syndrome kana partial monosomy 11q. Monosomy inguva apo chikamu chidiki chechromosome chisipo.

Vana vane Jacobsen Syndrome vane kunonoka kukura , matambudziko ehunhu , uye chimiro chechiso chakasiyana . Vana vazhinji vanewo matambudziko emwoyo avanoberekwa nawo. Vane mukana mukuru wekuva nechirwere chekubuda ropa chinonzi Paris-Trousseau syndrome.

Parizvino hapana mushonga wakakwana weizvi, uye nguva yekupona inosiyana kubva pamunhu kusvika pamunhu.

Ndezvipi zviratidzo zveJacobsen Syndrome?

Zviratidzo zveJacobsen Syndrome zvinosiyana zvichienderana nehukuru nenzvimbo yekubvisa. Vanhu vazhinji vanononoka kukura kwehunyanzvi hwekutaura nekushanda kwemuviri . Vanogonawo kunge vaine dambudziko rekuziva uye mamwe matambudziko ekudzidza .

Vana vazhinji vane Jacobsen Syndrome vanewo matambudziko ehunhu . Semuenzaniso, maitiro ekumanikidzwa uye nguva pfupi yekutarisa. Vana vazhinji vanoonekwawo vaine chirwere chinonzi Attention-Deficit/Hyperactivity Disorder (ADHD) . Chirwere ichi chinobatanidzwawo nenjodzi yakawedzerwa yekubatwa neAutism Spectrum Disorders .

Zvimiro zvechiso zvakananga

Vana vane Jacobsen Syndrome vane zvimwe zvinhu zvakasiyana-siyana pachiso. Izvi zvinosanganisira:

• Kuva nemusoro mukuru - macrocephaly
• Huso yakapinza nekuda kwekusagadzikana kwedehenya (trigonocephaly)
• Nzeve diki, dzakadzika
• Maziso ari kure kure - hypertelorism
• Maziso akadonha - ptosis
• Kuvapo kweganda rakapetwa pakona yemukati yeziso - mapetwa epicanthal
• Bhiriji remhino rakafara
• Makona emuromo anotenderera pasi
• Muromo wepamusoro mutete
• Kamuchina kadiki kakachekwa pasi

Zvimwe zvinhu

Zvimwe zvinhu zvakawanda zvinogona kuonekwa:

• Zvirwere zvemwoyo zvekuzvarwa nazvo
• Matambudziko ekudya
• Kunonoka kukura kwemwana asati aberekwa uye mushure mekusununguka
• Hurefu hupfupi
• Kutapukirwa nehutachiona hwemutsinga dzemudumbu nenzeve kakawanda
• Zvisina kumira zvakanaka mudumbu, itsvo, uye nhengo dzesikarudzi

Vanhu vazhinji vane Jacobsen Syndrome vanewo chirwere chekubuda ropa chinonzi Paris-Trousseau syndrome . Izvi zvinokanganisa maplatelet emwana wako. Maplatelet rudzi rwemasero anobatsira kuumba ropa. NeParis-Trousseau syndrome, mwana ari panjodzi yekubuda ropa risingawanzoitiki muhupenyu hwake hwese, uye anogona kukuvadzwa zviri nyore.

Ndezvipi zvikonzero zveJacobsen Syndrome?

Jacobsen Syndrome chirwere chema chromosome . Sezvamunoziva, ma chromosome ndiwo ane ruzivo rwemajini edu (majini). Majini aya anosarudza kuti muviri wedu unofanira kukura uye kushanda sei. Kazhinji, kune ma chromosomes makumi maviri nemaviri ane nhamba mumuviri wemunhu, pamwe ne peya imwe yema chromosomes ebonde. Chromosome imwe neimwe ine ruoko rupfupi (p arm) neruoko rurefu (q arm).

Mune vamwe vanhu, majini akati wandei ari kumagumo kweruoko rurefu (q) rwechromosome 11 anobviswa. Imwe hafu yechromosome 11 inowanzova isina chirwere. Ichi ndicho chikonzero cheJacobsen Syndrome. Kana kukura kwekubvisa kukawanda, zviratidzo zvinowedzera kuoma. Zvichienderana nehukuru hwekubvisa, nzvimbo yacho inogona kuva nemajini kubva pa170 kusvika anopfuura 340. Majini ari munzvimbo iyi ndiwo anokonzera kukura kwakanaka kwemwoyo yedu, uropi, uye chimiro chechiso.

Izvi zvinotonga here kana kuti zvinodzoreredza?

Kutonga kana kuti kudzoreredza zvinoreva kuti unowana sei majini ako kubva kuvabereki vako.

Asi,Kazhinji, chirwere cheJacobsen Syndrome hachisi chenhaka. Kureva kuti, hachigamuchirwi kubva kuvabereki. Kazhinji chinokonzerwa nekukanganisa kunoitika nekukakavara kwemasero panguva yekukura kwemwana ari mudumbu, zvichikonzera kurasikirwa kwechikamu chechromosome. Hapana chavanogona kuita kuti vabereki vadzivise, uye hapana chavanogona kuita kuti vadzivise. Vanhu vane chirwere cheJacobsen Syndrome havawanzove nenhoroondo yemhuri yechirwere ichi. Zvisinei, vanogona kupfuudza chirwere ichi kuvana vavo.

Kashoma, vanhu vane Jacobsen Syndrome vanogona kugara nhaka chirwere ichi kubva kumubereki asina zviratidzo. Izvi zvinoitika kana mubereki aine chiitiko chakaoma chemajini chinonzi balanced translocation . Zvichitaurwa zviri nyore, chikamu chechromosome 11 nechikamu chemamwe machromosome anochinjana. Izvi hazvideredzi majini, saka vabereki havaratidzi zviratidzo. Zvisinei, kana machromosome aya akapfuudzwa, vana vanogona kunge vaine kusawirirana.

Ndezvipi zvinhu zvinokonzera njodzi?

Jacobsen Syndrome chirwere chinokonzerwa nemajini chinogona kukanganisa chero munhu. Imwe tsvakurudzo yakawana kuti chinokanganisa vasikana kakawanda.

Vanachiremba vanoongorora sei izvi?

Chiremba wako anogona kukwanisa kuona Jacobsen Syndrome panguva yekuzvitakura kwako. Kana ultrasound scans yemwana asati aberekwa ikakonzera chero kunetseka, chiremba wako anogona kukurudzira kuongororwa kwakawanda. Miedzo inowanzoitwa yekuongorora majini emwana asati aberekwa inosanganisira:

• Kuongororwa kwemwana asati aberekwa (NON-invasive prenatal testing - NIPT): Izvi zvinosanganisira kutora DNA yemwana wako shoma kubva muropa rako uye kutarisa kana paine zvisina kunaka muhuwandu hwemachromosomes.
• Kuongororwa kweChorionic villus (CVS): Chiremba anoshandisa tsono kutora sampuli yemasero kubva muplacenta.
• Amniocentesis: Chiremba anoshandisa tsono kutora sampuli yemvura yeamniotic iri muchibereko.

Mushure mekunge mwana azvarwa, chiremba wemwana anogona kuona chirwere cheJacobsen Syndrome nekuita bvunzo dzemajini . Muongororo iyi yemajini, chiremba anotora sampuro yeropa remwana oitarisa pasi pemaikorosikopu. Anosvibisa machromosome ari musampuli, ayo anotaridzika sebhaibheri. Izvi zvinogona kutsvaga machromosome akatyoka, majini asipo. Kazhinji, chikamu chakatyoka chiri pachromosome 11. Zvisinei, bvunzo dzakawanda dzemajini dzinodiwa kuti uwane nzvimbo chaiyo yekutyoka.

Imwe bvunzo ndeyeMicroarray Comparative Genomic Hybridization (Array CGH).Dzimwe nguva shanduko diki kwazvo mumachromosome, diki kwazvo zvekuti hazvionekwe nemaikorosikopu, dzinogona kukonzera Jacobsen Syndrome. Ndipo vanachiremba pavanoita bvunzo iyi yeArray CGH. Izvi zvinoratidza shanduko diki kwazvo muDNA mumachromosome emwana. Inogona kuona kana DNA yakadzokororwa, yakakanganiswa, kana kuti isipo.

Chirwere cheJacobsen chinorapwa sei?

Hakuna mushonga weJacobsen Syndrome. Kurapa kunonyanya kutarisisa:

• Kugadzirisa zviratidzo zvemwana wako
• Kuti amubatsire kusvika padanho rake rekukura
• Kudzivirira matambudziko ehutano

Kune vacheche vanonetseka nekudya, vanachiremba vanogona kukurudzira gastrostomy tube (G-tube) . Iyi tube inoiswa zvakananga mudumbu remwana kuti iendese chikafu. Kuvhiyiwa kunonzi fundoplication kunogona kugadzirisa dambudziko rine vharuvhu iri pasi pegurokuro.

Mwana wako angada kuvhiyiwa kumwe. Semuenzaniso, kuvhiyiwa kugadzirisa matambudziko emusoro, akadai se trigonocephaly . Kuvhiyiwa kunogonawo kudiwa kugadzirisa matambudziko ekuona kana emaziso. Kuvhiyiwa kunogonawo kudiwa kugadzirisa zvikanganiso zvemapfupa, zvemwoyo, nezvimwe.

Chiremba wemwana wenyu anogona kunyora mimwe mishonga yekurapa mamwe matambudziko emwoyo. Semuenzaniso, mishonga inoderedza marwadzo emwoyo . Iyi mishonga inobatsira kudzivirira kana kugadzirisa mafambiro emwoyo asina kujairika. Vanogonawo kunyora mishonga inobvisa mvura mumuviri . Iyi mishonga inobatsira kubvisa mvura yakawandisa mumuviri.

Vanachiremba vanogona kukurudzira magirazi ekugadzirisa, magirazi ekuona, kana kuvhiyiwa kwezvisina kumira zvakanaka mumaziso.

Vanachiremba vanogona kupa ropa kana kuwedzerwa maplatelet kuti varape migumisiro yeParis -Trousseau syndrome . Vanogonawo kukupa mushonga unonzi desmopressin , unobatsira kuumbwa kweropa rako.

Mwana wako achasvika padanho rekukura kwake pane imwe nguva. Zvisinei, kupindira nekukurumidza kunogona kumubatsira kusvika padanho rake rakazara. Chiremba wemwana wako anogona kukurudzira zvinotevera:

• Dzidzo yakakosha yekugadzirisa
• Kurapa muviri
• Kurapa kwekutaura

Chii chandingatarisira kana mwana wangu aine Jacobsen Syndrome?

Nguva yekurarama kwevanhu vane Jacobsen Syndrome inosiyana zvichienderana nekuoma kwezviratidzo zvavo. Nekuda kwezvirwere zvemwoyo zvakanyanya uye matambudziko ekugwamba kweropa, vanenge 20% vevana vane Jacobsen Syndrome vanofa vasati vasvitsa makore maviri.

Zvisinei, vana vazhinji vane Jacobsen Syndrome vakararama kusvika vakura. Vakuru vane chirwere ichi vanogona kurarama hupenyu hunofadza, hunogutsa nekuzvimiririra kwakasiyana-siyana.

Ko chirwere cheJacobsen Syndrome chinogona kudzivirirwa here?

Nekuti chirwere ichi chinokonzerwa nemajini, Jacobsen Syndrome haigone kudzivirirwa. Kana uine pamuviri kana kuti uchironga kubata pamuviri, bvunza chiremba wako nezvemazano ezvemajini . Nyanzvi yezvemajini inogona kukubatsira kunzwisisa njodzi yako yekuva nemwana ane Jacobsen Syndrome.

Kuziva kuti mwana wako ane chirwere cheJacobsen Syndrome kunogona kutyisa. Usatya, asi tora nguva yekudzidza zvakawanda sezvaunokwanisa nezvekuongororwa kwemwana wako. Kana zvichibvira, edza kutsvaga chiremba anonzwisisa chirwere chemwana wako. Iye anogona kupa mwana wako nzira dzakanakisisa dzekurapa.

Kuti zvikubatsirei kubata nechirwere chemwana wenyu, tsvagai mapoka ekutsigirana . Vamwe vakambosanganawo nemamiriro ezvinhu akafanana neako vanogona kukupai ruzivo nesimba ramunoda kuti mubatsire mwana wenyu.

Mharidzo Yekuenda Nayo Kumba

Chirwere cheJacobsen chirwere chisingawanzoitiki uye chinogona kunge chakaoma, asi yeuka, hausi wega.

• Izvi zvinokonzerwa nekuchinja kwemajini , kwete mhosva yevabereki.
• Kuzivikanwa nekubatsirwa nekukurumidza kwakakosha zvikuru pakuvandudza hupenyu hwemwana.
• Tsvaga rubatsiro kubva kuna vanachiremba vane hunyanzvi, varapi, uye vapi vemazano .
• Simba neruzivo zvakawanikwa kubva kumapoka ekutsigirana nevamwe vabereki zvinokosha zvikuru.
• Mwana wese akasiyana. Bata mwana wako nerudo nemoyo murefu zvichienderana nezvaanogona uye zvaanoda.

Kana muine mimwe mibvunzo nezvenyaya iyi, musazeza kutaura nachiremba wenyu.

Jacobsen Syndrome, kusarongeka kwema chromosome, chromosome 11, chirwere chemajini, kunonoka kukura, Paris-Trousseau syndrome, chirema chemwoyo chekuzvarwa nacho, mazano ezvemajini