Chii chinonzi Cornelia de Lange Syndrome? Ngatikurukurei nezvazvo!

Wakambonetseka here kana kuda kuziva nezvekukura kwemwana wako, kana nezvekuchinja kudiki kwechitarisiko chake? Kune vamwe vacheche vanokura zvakasiyana zvishoma nevamwe vacheche, uye chitarisiko chavo chechiso nemakumbo zvinogona kunge zvakasiyana zvishoma. Nhasi tichataura nezvechirwere chisingawanzoitiki asi chakakosha kwazvo chekuziva. Ichi chinonzi Cornelia de Lange Syndrome (CdLS).

Chii chinonzi Cornelia de Lan's Syndrome (CdLS)?

Zvichitaurwa zviri nyore, ichi chirwere chisingawanzoitiki chemajini . "Genetic" zvinoreva chimwe chinhu chinokonzerwa nekuchinja kwemajini edu. Chirwere ichi chinokonzera shanduko muchitarisiko chemuviri wemwana, kukura kwepfungwa (sekugona kudzidza), uye maitiro ake.

Chinhu chakakosha ndechekuti chirwere ichi (CdLS) hachibate vacheche vese nenzira imwe chete. Kunyange hazvo vamwe vacheche vangava nezviratidzo zvisina kusimba, vamwe vangava nezviratidzo zvakakomba. Kutaura chokwadi, hapana vacheche vaviri vane chirwere ichi vakafanana chaizvo. Zvisinei, pane zvimwe zvakafanana pakuonekwa kwavo uye maitiro avo. Chirwere ichi chinogona kukanganisa nhengo dzakasiyana dzemuviri wemwana. Zviratidzo zvikuru zvinowanzoonekwa ndeizvi:

• Kunonoka kukura kwemwana asati aberekwa uye mushure mekuzvarwa. Izvi zvinoreva kuti mwana anogona kudzikira uremu uye kusareba.
• Kuchinja kwemusoro nechiso. Vanachiremba vanoti kuchinja uku "kwemusoro wemusoro". Tichataura nezvazvo gare gare.
• Zvimwe zvikanganiso mumaoko neminwe.
• Kuva nebvudzi rakawanda kupfuura zvakajairika pamuviri nemumusoro. Izvi zvinonzi ``hypertrichosis`` kana ``hirsutism``.
• Kuremara kwepfungwa.

Dambudziko iri rakajairika zvakadii?

Chirwere cheCornelia de Lann chirwere chisingawanzoitiki . Chinowanikwa pakuzvarwa. Maererano nehuwandu, chinoitika mumwana mumwe chete pavana 10,000 vanoberekwa vari vapenyu, kana mumwe chete pavana 50,000 vanoberekwa vari vapenyu. Zvisinei, vanachiremba vanotenda kuti vamwe vacheche vane chirwere ichi vanogona kusaonekwa. Izvi zvinodaro nekuti kana zviratidzo zvacho zviri zvishoma, vanogona kunge vakafungidzirwa kuti vane zvimwe zvirwere. Kana kuti, vangasatomboziva kuti vane hukama ne (CdLS).

Ndezvipi zviratidzo zveCornelia de Lann syndrome?

Sezvatakambotaura, chirwere ichi hachibate mwana wese nenzira imwe chete. Zviratidzo zvinogona kusiyana kubva pamwana kusvika pamwana. Kana mwana wako aine chirwere ichi, unogona kuona chimwe chezviratidzo zvinotevera kana kupfuura.

Zvinhu zvakakosha zvinoonekwa pachiso nemusoro

Tinodaidza kuti "Zvinhu zvakasiyana zvemusoro wemusoro".

• Maziso anowanzoita seakabatana pakati uye akakombama kumusoro (izvi zvinonzi `(synophrys)`).
• Maziso akareba kwazvo.
• Matinji ear lobes ari pasi pezvakajairika.
• Mazino acho madiki uye pane mipata mikuru pakati pawo.
• Mhino yacho inova diki uye yakasimudzwa.
• Musoro mudiki pane zvakajairika (vanachiremba vanodana izvi kuti "microcephaly").
• Kuva nemuromo wakatsemuka (izvi hazviitiki kune wese munhu, asi vamwe vanhu vanogona kuzviita).

Zvinhu zvekuvandudzwa kwetsinga dzeuropi

• Kunonoka kukura. Kureva kuti, zvinhu zvakaita sekusakambaira panguva yekukambaira, kusafamba panguva yekufamba.
• Vanhu vazhinji vanogona kunge vaine hurema hwepfungwa huri pakati nepakati kusvika hwakakomba , zvichireva kuti vanogona kunge vaine zvimwe zvipingamupinyi muzvinhu zvakaita sekudzidza nekunzwisisa.

Zvinhu zvepfungwa

• Vanogona kuratidza maitiro akafanana nee "(Autism spectrum disorder)" . Semuenzaniso, vangasade kutaurirana nevamwe uye vanogona kudzokorora zvinhu zvakafanana kakawanda.
• Zviratidzo zvakafanana nezvirwere zvinonzi Attention-deficit/hyperactivity disorder (ADHD) .
• Matambudziko ekuzvidya mwoyo.

Zvimwe zvinhu zvakajairika zvinogona kuonekwa

Kuwedzera kune izvi, chirwere cheCornelia de Lann chinogona kukonzera mamwe matambudziko:

• Kukura zvishoma nezvishoma vasati vaberekwa uye mushure mekuzvarwa. Izvi zvinogona kukonzera kuti vapfupike.
• Zvimwe zvirwere mumaoko, zvigunwe, nemapfupa emaoko.
• Kuva nebvudzi rakawanda kupfuura zvakajairika pamuviri (hirsutism).
• Kurasikirwa nekunzwa.
• Matambudziko ekugaya chikafu. Semuenzaniso, chronic acid reflux (GERD).
• Zvisina kujairika zvenhengo dzesikarudzi. Zvakadai semachende asina kusimba muvakomana (cryptorchidism).
• Kutadza kuona zvakanaka. Semuenzaniso, kusaona zvakanaka (myopia).
• Kubatwa nepfari (tinoti `pfari`).
• Chirwere chemwoyo. Semuenzaniso, kuva neburi mumoyo.

Chii chinokonzera chirwere cheCornelia de Lan?

Dambudziko iri rinowanzo kukonzerwa nekuchinja kunokuvadza (pathogenic variant) mune rimwe remajini manomwe . Majini aya ndeaya NIPBL, SMC1A, HDAC8, RAD21, SMC3, BRD4, uye ANKRD11. Pamwe chete, majini aya anobatsira chimwe chinhu chinonzi cohesin complex kushanda zvakanaka.

Zvino ungave uchishamisika kuti iyi `(cohesin complex)` chii. Zvichitaurwa zviri nyore, iyi iboka remapuroteni anoita basa rakakosha zvikuru kana mwana ari kukura mudumbu.Izvi ndizvo zvinodzora majini anodiwa kuti nhengo dzemuviri dzemwana dzikure zvakanaka. Saka, kana paine shanduko mune chero majini ataurwa kare, mashandiro e "cohesin complex" iyi achakanganiswa. Zvadaro, zvichakanganisa kukura kwemwana achiri mudiki.

Pakati pe60% ne80% yevanhu vane `(CdLS)` vane chirwere ichi nekuda kwekuchinja kwejini re`NIPBL`. Chirwere ichi hachiwanzokonzereswa nekuchinja kwemamwe majini matanhatu. Kune vamwe vanhu 5% kusvika 20%, chikonzero chechirwere ichi hachisati chazivikanwa nemajini.

Kazhinji, vana vane chirwere ichi havana nhoroondo yemhuri yechirwere ichi. Izvi zvinoreva kuti chinowanzo kukonzerwa nekuchinja kwemajini matsva (kunonzi `de novo mutation`). Zvisinei, kana mumwe mubereki aine zviratidzo zvishoma zvechirwere ichi, vane mukana we50% wekuva nemwana ane chirwere ichi. Saizvozvowo, kana vabereki vane hutano hwakanaka vaine mwana ane `(CdLS)`, njodzi yekuva nemumwe mwana ane chirwere ichi inofungidzirwa kuva pakati pe1% ne1.5%.

Ndezvipi zvinetso zvinogona kuitika nekuda kwechirwere ichi?

Nekuti chirwere cheCornelia de Lann chinokanganisa nhengo dzakasiyana dzemuviri, matambudziko akasiyana-siyana anogona kuitika.

Matambudziko ekugaya chikafu

• Duodenal atresia: Kuvharika kwechikamu chekutanga cheura hudiki hwemwana.
• Hernia yekuzvarwa nayo yediaphragmatic: Buri riri mudiaphragm yemwana (tsandanyama inoparadzanisa chipfuva nedumbu).
• `(Kusashanda zvakanaka kwemuviri)`: Kusashanda zvakanaka kwemaumbirwo eura hwemwana.
• Kuoma kwemutsipa wemwana: Kutetepa kweburi kubva mudumbu remwana kuenda muura hudiki.
• Inguinal hernia: Chikamu cheura hwemwana chinosunda nepaburi riri mudumbu chichipinda munzvimbo yehudyu.
• Barrett's esophagus: Chirwere chinogona kuitika nekuda kweGERD yakanyanya.

Matambudziko enhengo dzesikarudzi

• Cryptorchidism: Chirwere chekuti machende emwana wechirume anotadza kudzika mudumbu remwana asati aberekwa kana kuti nguva pfupi mushure mekuzvarwa.
• `(Hypospadias)`: Muvana vechirume, urethra haivhurike panzvimbo chaiyo panhengo yemurume.
• `(Kusaita kweitsvo)`: Itsvo imwe chete kana dzese dziri mbiri dzemwana diki pane zvakajairwa.

Matambudziko emaziso

• `(Ptosis)`: Kutadza kuvhura ziso zvakanaka nekuda kwekuti ziso repamusoro rakarembera pasi.
• Blepharitis: Kuzvimba uye hutachiona hwemaziso.
• Kusaona zvakanaka: Semuenzaniso, zvirwere zvakaita se `(astigmatism)` (kuona kusina kujeka nekuda kwekukombama kwechikamu chekunze cheziso).

Chirwere cheCornelia de Lan chinoonekwa sei?

Chiremba wemwana wako anogona kukwanisa kuona chirwere ichi mushure mekuzvarwa kana nguva pfupi mushure mekuzvarwa . Chiremba achaongorora mwana wako mumuviri, oongorora zviratidzo, uye obvunza nezvenhoroondo yehutano hwemhuri yako.

Zvisinei, zviratidzo zvemwanaKana chiri chidiki zvakanyanya, zvinogona kuoma kuona chirwere chacho. Muzviitiko zvakadaro, chiremba anogona kukumbira kuongororwa kwemajini kuti asimbise chirwere chacho.

Kashoma, chirwere ichi chinogona kuonekwa mwana asati aberekwa. Izvi zvinonzi bvunzo dzemajini epamberi pekuberekwa . Izvi zvinogona kuona shanduko dzemajini dzinokonzera chirwere ichi.

Chirwere cheCornelia de Lan chinorapwa sei?

Kurapwa kwechirwere ichi kunosiyana kubva pamucheche kuenda kumucheche, zvichienderana nezviratidzo zvine mwana wega wega. Nekuti chirwere ichi chinokanganisa nhengo dzakawanda dzemuviri, timu yevanachiremba ichashanda pamwe chete kuronga kurapwa. Kurapwa kunogona kusanganisira:

Kudya zvinovaka muviri uye kudyisa

• Kuisa chubhu yekugaya chikafu kuti mwana awane fomura ine macalorie akawanda uye/kana chikafu chekudzivirira kunonoka kukura.
• Tsvaga mazano kubva kune nyanzvi yezvekudya kuti ukurukure nezvematambudziko ekudya.

Kuvhiya

• Kusashanda zvakanaka kwemapfupa.
• Matambudziko ekugaya chikafu.
• Chirwere chemwoyo.
• Mukanwa wakaoma.
• Machende asina kudzika.

Kuvhiyiwa kungadiwa kurapa zvirwere zvakaita seizvi.

Mishonga

• Mishonga inorwisa pfari inodzora kana kudzivirira pfari (kugwinha).
• Mishonga yekudzora kushushikana kwepfungwa inokuvadza munhu kana kuti ine hasha.
• Mishonga inorwisa mabhakitiriya inorapa zvirwere zvekufema.

Mamwe matambudziko ekugaya chikafu nemoyo anogonawo kurapwa nemishonga.

Kurapa

Kurapa uku kunofanira kuenderera mberi muhupenyu hwese hwemwana. Nzira dzakasiyana-siyana dzekurapa dzinogona kushandiswa kugadzirisa kunonoka kwekukura, kuremara kwepfungwa, uye matambudziko ehunhu hwemwana. Izvi zvinogona kusanganisira:

• Kurapa muviri.
• Kurapa kwepabasa.
• Kurapa kwekutaura.
• Kurapa kwepfungwa.

Pamusoro pezvo, pane chikonzero chekuramba uchiongorora uye uchitarisa zvimwe zviitiko uye kunonoka kwekukura kwemwana muhupenyu hwake hwese. Izvi zvinosanganisira:

• Kuongororwa kwekunzwa nekuona.
• Kukura uye kukura kwepfungwa (kushanda sekufunga kwemunhu).
• Kushanda kwemoyo neitsvo.
• Kushanda kwegadziriro yekugaya chikafu.

Izvi zvinofanira kugara zvichiongororwa navanachiremba.

Munhu ane chirwere cheCornelia de Lann anotarisirwa kurarama kwenguva yakareba sei?

Nguva yekurarama kwevanhu vane chirwere ichi yakajairika.Vana vazhinji vane chirwere ichi vanorarama zvakanaka kusvika vakura. Zvisinei, kana mwana aine zvimwe zvezviratidzo zvakanyanya zvechirwere ichi (kunyanya matambudziko emwoyo nepahuro), zvinogona kupfupisa hupenyu hwavo zvishoma.

Vakuru vane CdLS vangada kurapwa nguva dzose muhupenyu hwavo hwese. Kana matambudziko akaitika, fungidziro yechirwere ichi inoenderana nekuoma kwacho uye kurapwa kwacho.

Mamiriro ezvinhu aya anogona kudzivirirwa here?

Nekuti chirwere cheCornelia de Lann hachigone kudzivirirwa. Kana uchironga kubata pamuviri uye uchida kuziva njodzi yako yekuva nemwana ane chirwere ichi, taura nachiremba wako nezvemazano ezvemajini kana kuongororwa kwemajini .

Zvakajairika kunzwa kushamisika uye kusuruvara paunoona kuti mwana wako ane chirwere chemajini chisingawanzoitiki. Asi yeuka, vana vazhinji vane chirwere cheCornelia de Lann vanorarama hupenyu hwakazara uye vanokura zvakanaka kusvika vakura.

Kana chirwere chemwana wako chaonekwa, chiremba wako achataura newe nezvenzira dzakasiyana dzekurapa. Ungangodawo kushanda nechikwata chenyanzvi. Chinhu chakakosha ndechekudzidza zvakawanda sezvaunokwanisa nezvechirwere chemwana wako uye kutungamira mukupa rubatsiro rwakanakisisa.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakanaka, ngatipfupisei zvimwe zvezvinhu zvakakosha zvaunofanira kuyeuka kubva pane zvatataura nezvazvo:

• Cornelia de Lan syndrome (CdLS) chirwere chisingawanzoitiki chemajini.
• Izvi zvinogona kukanganisa chitarisiko chemwana, kukura kwake, njere dzake, uye maitiro ake .
• Zviratidzo zvinosiyana kubva pamucheche kuenda kumucheche ; zvimwe hazvina kunyanya kuoma, zvimwe zvakanyanya.
• Chikonzero chacho kuchinja kwemajini.
• Kurapwa kunoenderana nezviratidzo zvemwana. Nzira dzakasiyana-siyana dzekurapa, kusanganisira kuvhiyiwa kana zvichidikanwa, uye mishonga inogona kushandiswa.
• Kunyange hazvo chirwere ichi chisingadzivirirwi, mazano ezvemajini anogona kukubatsira kudzidza nezvenjodzi yako.
• Kuzivikanwa nekukurumidza, kurapwa kwakakodzera, uye kutarisirwa nerudo zvinogona kubatsira vana ava kurarama hupenyu hune chinangwa.

Kana muine mimwe mibvunzo kana zvinokunetsai nezvenyaya iyi, iva nechokwadi chekutaura nachiremba wemhuri yenyu kana chiremba wevana. Ivo vachakupai gwara ramunoda.

Cornelia de Lanne syndrome, CdLS, zvirwere zvemajini, hutano hwevana, kunonoka kukura, chimiro chemuviri, zvirwere zvisingawanzoitiki