Chii chinonzi Wolf-Hirschhorn Syndrome? Inogona kukanganisa mwana wako here?

Wakambonzwa nezvechirwere chinonzi Wolf-Hirschhorn Syndrome here? Pamwe wakaona zviratidzo mumwana wako uye hauzive kuti chii. Kana zvakadaro, chinyorwa chino chichava chakakosha kwauri. Ngatitaure nezvazvo zviri nyore, nenzira yaunogona kunzwisisa. Usatya, kuziva ndicho nhanho yekutanga.

Chii chinonzi Wolf-Hirschhorn Syndrome?

Zvichitaurwa zviri nyore, chirwere cheWolf-Hirschhorn Syndrome chirwere chisingawanzoitiki chemajini . Chinokonzerwa nekuchinja kudiki kwemachromosomes mukati memasero edu. Funga nezvacho sechivako chakavakwa zvichienderana nehurongwa hwakaoma. Hurongwa uhwu huri mumajini edu. Machromosome ndiwo maumbirwo anochengetedza ruzivo urwu rwemajini.

Kutaura chokwadi, chirwere ichi chinonzi Wolff-Hirschhorn syndrome chinoitika kana paine kurasikirwa kana kubviswa kwemajini pamucheto weruoko rupfupi rwechromosome 4, rwuripo mumasero edu ese. Ndosaka dzimwe nguva ruchinzi '4p- syndrome'. Bhii 'p' rinomiririra ruoko rupfupi rwechromosome.

Kuchinja kwemajini uku kunogona kukanganisa nhengo dzakasiyana dzemuviri wemwana, kunyanya mwoyo nepfungwa . Kunogonawo kukonzera kuti vamwe vana vave nepfari. Vana vane chirwere ichi vanogona kunge vaine zvimwe zvinhu zvechiso. Semuenzaniso, daro riri pakati pemaziso rakafara kupfuura zvakajairika, huma yakakwira, uye musoro mudiki pane zvakajairika. Kwete izvozvo chete, zvinogonawo kukanganisa kukura kwepfungwa dzemwana nekukura kwemuviri .

Ndiani anonyanya kukanganiswa nemamiriro ezvinhu aya?

Nekuti chirwere cheWolff-Hirschhorn chirwere chemajini, chinogona kuitika kune chero munhu . Kazhinji, hachigarwi nhaka. Izvi zvinoreva kuti hachipfuurirwi kubva kumubereki kuenda kumwana. Kazhinji, chirwere ichi chinokonzerwa nekuchinja kwemachromosome (de novo) zvisina kurongeka . Izvi zvinogona kuitika panguva yekukura kwemazai eamai, kana panguva yekukura kwemaseru embeu yababa, kana pakutanga kwemwana ari mudumbu. Kana kuchinja uku kwe "de novo" kukaitika, hapana munhu mumhuri anofanira kunge akambova nechirwere ichi kare.

Zvisinei, zvidzidzo zvakaratidza kuti vasikana vane mukana wekuwana chirwere ichi kupfuura vakomana.

Chirwere cheWolff-Hirschhorn chakajairika zvakadii?

Ichi chirwere chisingawanzoitiki . Zvichienderana nehuwandu, munhu mumwe chete pavana 50,000 vanozvarwa vari vapenyu anobatwa nacho.Zvinofungidzirwa kuti chirwere ichi chinongobata vanhu vanosvika zviuru zana chete. Zvisinei, fungidziro iyi ingave isingakosheswi. Vamwe vana vanogona kunge vasina kuongororwa zviri pamutemo nekuti zviratidzo zvavo zvakapfava kana kuti zvishoma zvekuti vanogona kunge vasina chirwere ichi. Kana kuti, zviratidzo zvinogona kunge zvisirizvo sezviratidzo zvechimwe chirwere chemajini.

Ndezvipi zviratidzo zveWolff-Hirschhorn syndrome?

Zviratidzo zveWolff-Hirschhorn syndrome zvinogona kusiyana kubva pamwana kuenda kumwana, uye kuoma kwazvo kunogona kusiyana . Zviratidzo izvi zvinokanganisa nhengo dzakasiyana dzemuviri wemwana.

Zvinhu zvakakosha zvinoonekwa pachiso

Kune zvimwe zvinhu zvechiso zvinogona kuonekwa muvana vane chirwere ichi. Izvi zvinosanganisira:

• Muromo wemukanwa wakatsemuka kana kuti muromo wakatsemuka: Vamwe vana vanogona kuzvarwa vaine muromo wakatsemuka kana wepamusoro.
• Zvimiro zvechiso zvisina kuenzana: Izvi zvinoreva kuti mativi ekurudyi nekuruboshwe echiso haana kufanana, uye panogona kunge paine musiyano muhukuru kana chimiro.
• Zambuko remhino rakati sandara: Pamusoro pemhino panogona kunge pakati sandara.
• Huru yepamusoro: Nzvimbo yehuma inogona kunge yakakwira kupfuura yakajairika.
• Nzeve dzisina kunyatsogadzirwa zvakanaka kana dzisina kunyatsogadzirwa zvakanaka: Nzeve dzinogona kunge dzakadzikira kupfuura zvakajairika kana kuti panogona kunge paine shanduko muchimiro chenzeve.
• Mazino asipo kana asina kujairika: Mamwe mazino anogona kusaoneka kana kuti panogona kunge paine kusajairika muchimiro chemazino.
• Chirebvu chidiki (micrognathia): Nzvimbo yechirebvu inogona kunge iri diki pane yakajairika.
• Musoro mudiki: Musoro unogona kunge uri mudiki pane zvakajairika.
• Maziso akafara, akakura: Nzvimbo iri pakati pemaziso inowedzera, uye maziso anogona kuoneka akakura zvishoma uye akakura. Izvi dzimwe nguva zvinonzi "chitarisiko chengowani yevarwi vechiGiriki," asi hazviratidzike zvakafanana kune wese munhu.

Zvinhu zvekukura nekukura

Mwana achiri mudumbu, anokura zvishoma nezvishoma . Izvi zvinogona kukonzera mamwe matambudziko pakuzvarwa:

• Kushaya simba kwetsandanyama (hypotonia) kana tsandanyama dzisina kukura zvakanaka: Mwana anogona kunge aine muviri wakaremara uye wakaremara. Izvi zvinogona kunge zvichikonzerwa nekuti tsandanyama hadzina kukura zvakakwana.
• Zvinhu zvinononoka kukura: Kufanana nevamwe vacheche, zvinotora nguva kuti zvinhu zvakaita sekusimbisa mutsipa, kukunguruka, kugara, kumira, uye kufamba zviitike.
• Matambudziko ekudyisa: Zvinhu zvakaita sekusakwanisa kuyamwa kana kuoma kumedza chikafu zvinogona kutadzisa mwana kuwana chikafu chaanoda.
• Kuomerwa nekuwedzera uremu: Nekuda kwematambudziko aya ekudyisa, kuwedzera kwehuremu hwemwana kunononoka.

Nekuda kwekunonoka kukura nekukura uku, mwanaZvinogonawo kukonzera kupfupika kwehurefu .

Zviratidzo zvine chekuita nehuropi

Vana vanozvarwa vaine chirwere cheWolff-Hirschhorn vanogona kunge vaine hurema hwepfungwa . Izvi zvinogona kunge zviri nyore kune vamwe vana uye zvakanyanya kune vamwe. Ongororo dzakaratidza kuti vana ava vanogona kunge vaine hunyanzvi hwakanaka hwekushamwaridzana nevamwe, asi vanogona kunge vaine matambudziko mumutauro nekutaurirana . Izvi zvinoreva kuti kunyangwe vachikwanisa kuseka nekutamba nevamwe, vanogona kunge vaine matambudziko ekutaura nekutaura.

Uyewo, vana ava vanogona kunge vaine pfari muhudiki hwavo hwese . Dzimwe nguva pfari idzi dzinogona kuramba kurapwa. Zvisinei, mwana paanokura, kuwanda kwepfari idzi kunogona kudzikira kana kutopera zvachose.

Zviratidzo zvinokanganisa mamwe masisitimu emuviri

Chirwere cheWolff-Hirschhorn chinogonawo kukanganisa dzimwe nhengo dzemuviri wemwana:

• Kukombama kwemusana (scoliosis kana kyphosis): Zvirwere zvakaita sekukombama kwedivi kana kukotama kwemusana (kyphosis) zvinogona kuitika.
• Ganda rakaoma: Ganda rinogona kuoma nguva dzese.
• Matambudziko ekukura kwemoyo (atrial septal defect): Matambudziko emwoyo akaberekerwa nawo akadai seburi riri pakati peatria yemoyo anogona kuitika.
• Kushaikwa kwemasoja emuviri ekudzivirira zvirwere: Nekuda kwekusakwanisa kwemuviri kurwisa zvirwere, hutachiona hunogona kuitika kakawanda.
• Matambudziko ekushanda kweitsvo: Kushanda kweitsvo kunogona kukanganiswa.
• Matambudziko munzira yeweti uye nzira yekubereka (genitourinary tract): Mamwe matambudziko munzira yeweti kana nhengo dzekubereka anogona kuitika.
• Matambudziko ekuona: Mamwe matambudziko ekuona anogona kuitika.

Sei chirwere cheWolff-Hirschhorn chichiitika?

Sezvatakambokurukura, chikonzero chikuru chechirwere cheWolff-Hirschhorn ndechekurasikirwa (kubviswa) kwechikamu chemajini paruoko rupfupi rwechromosome 4 (4p) . Kurasikirwa uku kwechikamu chemakromosomu kunoitika panguva yekuumbwa kwesero rezai raamai kana sero rembeu rababa, kana panguva yekutanga kwekugadzirwa kwembeu. Panguva ino, apo masero ekubereka anopatsanuka, makromosomu haakoperwe nemazvo, uye chikamu chekromosomu chinoputsika uye chinorasika.

Kashoma, chirwere cheWolff-Hirschhorn chinogonawo kukonzerwa nechirwere chinonzi ring chromosome . Apa ndipo apo chromosome inotyoka munzvimbo mbiri uye mativi maviri akatyoka anobatana kuti agadzire chimiro chakaita se ring. Kana izvi zvikaitika, chikamu che chromosome chinotyoka chobviswa.

Kana mwana akarasikirwa nechikamu chemachromosome ake, majini ari pachikamu ichocho haawani mirairo inodiwa pakuvaka muviri. Ndizvo zvinokonzera zviratidzo zveWolff-Hirschhorn syndrome. Hukuru hwechikamu chisipo chemachromosome hunogona kusiyana kubva pamunhu kusvika pamunhu. Kana mwana akarasikirwa nechikamu chikuru chechromosome yake yechina, zviratidzo zvinogona kunge zvakanyanya.

Izvi zvinobva kuzvizvarwa nezvizvarwa here?

Kazhinji (anenge 90%) izvi zvinokonzerwa nekuchinja kwemajini kunoitika kamwe chete, asi muchikamu chidiki kwazvo (anenge 10-15%) kunogona kugarwa nhaka kubva kumubereki mumwe chete . Muzviitiko zvakadaro, mumwe wevabereki (kazhinji amai) anogona kunge aine chirwere chinonzi balanced translocation .

Muchidimbu, kupatsanurwa kwemajini kwakaenzanirana kunoitika kana machromosome maviri kana anopfuura ari mumunhu akatsemuka, zvidimbu zvacho zvichichinjana, uye zvobva zvabatana neimwe nzira. Vanhu vane rudzi urwu rwe "kupatsanurwa kwemajini kwakaenzanirana" vanowanzova vasina matambudziko ehutano uye vane hutano hwakanaka. Zvisinei, kana vaine vana, vanowanzo pfuudza rudzi rwekupatsanurwa kwemajini kuvana vavo. Izvi zvinoreva kuti mwana anogona kunge aine chidimbu chechromosome 4 chakawedzerwa kana chisipo. Kana kupatsanurwa uku kukakonzera kurasikirwa kana kudzikira kwenzvimbo iri pachromosome 4 inonzi 4p16.3, mwana achava nechirwere cheWolff-Hirschhorn. Dzimwe nguva, "kupatsanurwa kwemajini kwakaenzanirana" uku kunogona kuitika mumhuri kwezvizvarwa nezvizvarwa.

Ungaongorora sei chirwere ichi nemazvo?

Chiremba wako angafungidzira kuti chirwere cheWolff-Hirschhorn chirwere mumwana wako achiri mudiki, kunyanya kana akaona zviratidzo zvakaita seizvi:

• Zvinhu zvakakosha pachiso
• Matambudziko ekukura
• Kunonoka kwekukura
• Kuzvimba

Kana uine chimwe chezviratidzo izvi kana kupfuura, chiremba achaongorora zvakadzama.

Ndezvipi zviedzo zvinosimbisa chirwere ichi?

Nzira huru yekusimbisa chirwere ichi ndeyekuongororwa kwemajini . Izvi zvinonzi bvunzo ye chromosome microarray . Izvi zvinoitwa kuti pave neshanduko diki diki muma chromosome emwana. Kuongororwa uku kunogona kushandisa sampuro yeropa, sampuro yemate, kana swab yedama. Vachishandisa sampuro iyi, vanachiremba vanoongorora DNA yemwana.

Kana bvunzo iyi ikasimbisa kuti chikamu chechromosome 4, kureva nzvimbo inonzi 4p16.3, chakabviswa , mwana anoonekwa aine chirwere cheWolff-Hirschhorn.

Uri kuitei sekurapwa?

Nekuti chirwere cheWolff-Hirschhorn chirwere chinokonzerwa nemajini, pari zvino hapana mushonga wacho. Zvisinei,Kune nzira dzakasiyana-siyana dzekurapa dzinogona kubatsira kudzora zviratidzo uye kubatsira mwana kurarama zvakanaka sezvinobvira. Kurapa kunorongwa zvichienderana nezviratidzo zvemwana wega wega.

Kurapa kukuru ndekwekuti:

• Kuvhiyiwa: Kuvhiyiwa kungadiwa kugadzirisa zvimwe zvinhu zvisina kumira zvakanaka mukukura kwemwana, kunyanya matambudziko emwoyo (akadai seatrial septal defect).
• Kurapa muviri kana kuti kurapwa kwebasa: Kurapa uku kunobatsira kusimbisa simba remhasuru, kuchengetedza kuenzana, uye kukudzidzisa kuita mabasa ezuva nezuva uri wega.
• Zvirongwa zvedzidzo yakakosha: Zvirongwa zvedzidzo yakakosha uye nzira dzekudzidzisa dzinoshandiswa kubatsira kukura kwepfungwa dzemwana uye kugona kwake kudzidza.
• Mushonga: Mushonga unopiwa kuderedza pfari.

Pamusoro pezvose izvi, zvinogona kubatsira mhuri yako kuwana mazano ezvemajini . Vanopa mazano ezvemajini vanogona kukubatsira kunzwisisa zviri nani mamiriro emwana wako, pamwe nekukudzidzisa kuti ungatsigira sei mwana wako uye matambudziko api aangasangana nawo mune ramangwana.

Ndivanaani vane ruzivo rwandinofanira kutsvaga rubatsiro kubva kwavari?

Mwana ane chirwere cheWolff-Hirschhorn anofanira kuona nyanzvi dzakasiyana-siyana muhudiki hwake. Izvi zvinoitirwa kutarisa hutano hwake uye kuti zviratidzo zviri kukanganisa sei hupenyu hwake. Mushure mekuongororwa, anowanzoda kuongororwa nguva nenguva uye mazano kubva kunyanzvi dzakadai se:

• Chiremba wepfungwa: Anoongorora mashandiro europi nemamiriro ezvinhu akadai sepfari.
• Chiremba wemwoyo: Anoongorora matambudziko emwoyo.
• Chiremba wemazino: Gara uchitarisa hutano hwemazino ako.
• Chiremba wemaziso: Anoona nezvematambudziko ekuona.

Chiremba wako mukuru, kana kuti chiremba wemhuri, anogonawo kukurudzira kuongororwa ropa nguva nenguva kuti utarise zvinhu zvakaita sekushanda kweitsvo dzemwana wako panguva yekuongororwa kwegore negore.

Pane nzira yekudzivirira mamiriro ezvinhu aya here?

Sezvatakambokurukura, chirwere cheWolff-Hirschhorn chinowanzo konzerwa nekuchinja kwemajini kunoitika nekusarongeka, kuchangobva kuitika kwe "de novo" . Nokudaro, hapana nzira yekudzivirira chirwere ichi kuti chisaitike. Zvisinei, mune dzimwe nguva dzisingawanzoitiki, vamwe vana vanogona kugara nhaka chirwere ichi kubva kuvabereki vavo. Kana uine nhoroondo yemhuri yezvirwere zvemajini, kana kuti uchida kuziva nezvenjodzi yekuti mwana wako agare nhaka chirwere chemajini, zvakanaka kutaura nachiremba wako nezvekuongororwa kwemajini uye mazano ezvemajini .

Kana mwana aine chirwere cheWolff-Hirschhorn, chii chingatarisirwa?

Kunyange hazvo pari zvino pasina mushonga weWolff-Hirschhorn syndrome, kurapwa kwezviratidzo zvemwana kunogona kuita kuti pave nemigumisiro yakanaka uye kupa rutsigiro rwaanoda kuti ararame hupenyu hunofadza uye hune hutano sezvinobvira.

Kufanotaura kwemunhu ane chirwere ichi kunoenderana nekuoma kwezviratidzo zvake . Zviratidzo, kunyanya izvo zvinokanganisa mwoyo neuropi, zvinogona kupfupisa makore ekurarama. Zvisinei, nekurapwa kwakakodzera uye kutarisirwa, vana vazhinji vanoberekwa vane chirwere ichi vanorarama kusvika vakura .

Unofanira kuona chiremba rini?

Kana mwana wako aine chimwe chezviratidzo izvi, enda kuna chiremba nekukasika:

• Ronda risati rapora (kana ronda rava negoko uye richibuda mvura yakaita semapundu akajeka kana eyero).
• Zvirwere zvinogara zvakaita sedzihwa (fivha, kukosora, pahuro) uye kusakwanisa kupora zviri nyore.
• Kunonoka kwekufambira mberi.
• Kusadya nguva dzose.
• Kurova kwemoyo kusingawanzoitiki, kufema zvishoma, kana kuneta zvakanyanya (izvi zvinogona kuva zviratidzo zvechirwere chemwoyo chakadai sekushaya simba kwemoyo).

Mamiriro ezvinhu apo kurapwa kwekukurumidzira kunofanira kutsvakwa

Mwana wako ane chirwere cheWolf-Hirschhorn ari panjodzi yekubatwa nepfari . Kana mwana akabatwa nepfari, anogona kusangana nezvinotevera:

• Kurasikirwa kwenguva pfupi kwekuziva kwemasekondi makumi matatu kusvika kumaminitsi maviri.
• Kuzununguka kwemakumbo nemaoko kusingadzoreki (kugwinha).

Kana chimwe chinhu chakadai chikaitika, fonerai 1990 nekukasika kana kuti endesai mwana kuEmergency Treatment Unit (ETU) iri pedyo.

Mibvunzo inokosha yekubvunza chiremba wako

Zvinogona kuva zvakaoma kuziva kuti mwana wako ane chirwere chemajini chakaita seWolf-Hirschhorn syndrome. Zvisinei, zvakakosha kukurukura chero mibvunzo kana zvinokunetsa zvaungave nazvo nachiremba wako panguva ino. Unogona kubvunza mibvunzo yakaita seiyi:

• Pane migumisiro yakaipa here pamushonga wakapihwa mwana?
• Dambudziko remwana wangu rakakomba zvakadii?
• Chii chandinofanira kuita kana mwana wangu anonoka kusvika padanho rekukura?
• Mwana wangu anofanira kuona vamwe vanachiremba here?
• Tinogona kuwana mazano ezvemajini here? Rubatsiro rupi ruchatipa?

Chekupedzisira, zvinhu zvaunofanira kurangarira

Kuwana kuti mwana wako ane chirwere chemajini chakadai seWolf-Hirschhorn Syndrome kunogona kuva chiitiko chakaoma. Asi yeuka kuti hausi wega. Kunyange zvazvo zviratidzo zvechirwere ichi zvichigona kuchinja hupenyu, chiremba wako achakupa hurongwa hwekurapa. Uye, vachishanda nedzimwe nyanzvi, vachabatsira mwana wako kurarama hupenyu hunofadza uye hune hutano.

Chinhu chinonyanya kukosha ndechekuziva nezvemamiriro emwana wako uye kumupa rutsigiro rwakakodzera. Kuwana mazano ezvemajini kuchakupawo simba guru parwendo urwu. Tarisana nedambudziko iri usingatyi, nepfungwa dzakasimba. Tinokushuvira iwe nemwana wako rombo rakanaka!

Wolf -Hirschhorn Syndrome, zvirwere zvemajini, machromosomes, chromosome 4, 4p- syndrome, kunonoka kukura, chimiro chechiso, pfari, mazano ezvemajini