Mwana wako ane zviratidzo izvi here? Ngatidzidzei nezvePfeiffer Syndrome!

Mufaro unonzwa nevabereki pavanotarisa mwana achangoberekwa hautsananguriki, handiti? Panguva imwe chete, vanoteerera zvikuru zvese zvidiki nezvemwana. Dzimwe nguva ungafunga kuti chimiro chemusoro wemwana chinoshamisa, kana kuti maziso ake anotaridzika seakakura. Zvakajairika kunzwa kutya uye kusava nechokwadi kana ukaona zvinhu zvakadai. Asi hazvisi zvese zvitarisiko zvisingawanzoitiki chiratidzo chechirwere chakakomba. Zvisinei, zvakakosha kuziva nezvechirwere chisingawanzoitiki chinonzi Pfeiffer Syndrome, chatiri kuzotaura nezvacho nhasi.

Chii chinonzi Pfeiffer Syndrome? Ngatinzwisise zviri nyore.

Zvichitaurwa zviri nyore, Pfeiffer Syndrome chirwere chemajini. Chinoitika ndechekuti uropi hwemwana husati hwanyatsokura, nzvimbo dzinobatana mapfupa ari mudehenya, anonzi sutures, dzinovhara nguva isati yakwana. Izvi zvinonzi craniosynostosis mukurapa. Fungidzira, uropi hwedu hune nzvimbo yekukura. Saka, kana dehenya ravhara nekukurumidza, uropi hunokura mukati, uye dehenya rinosundidzirana naro. Ndokusaka chimiro chedehenya chakakanganisika.

Kune zvinhu zvakawanda zvikuru zvinogona kuratidza mwana ane chirwere ichi.

• Chikamu chepakati chechiso hachina kukura zvakanaka kana kuti chinoita sechakanyura mukati.
• Maziso anotaridzika seakakura uye akabudikira . Dzimwe nguva maziso anogona kuparadzaniswa zvakanyanya.
• Chimiro chedehenya hachina kujairika.
• Chimwe chinhu chakakosha ndechekuti zvigunwe zvikuru nezvigunwe zvikuru zvakakotama zvichienda kunze kubva kune zvimwe zvigunwe.

Usavhunduke kana ukaona chimwe chezviratidzo izvi kana kupfuura. Asi zvakakosha zvikuru kutsvaga rubatsiro kubva kuna chiremba.

Kune mhando dzePfeiffer Syndrome here?

Ehe, vanachiremba vakaona mhando nhatu huru dzechirwere ichi, zvichienderana nekuoma kwacho. Ngationei kuti chii.

Rudzi 1

Urwu ndirwo rudzi rune zviratidzo zvishoma, kana kuti zvisina kunyanya kuomarara. Izvi zvinonziwo "classic Pfeiffer syndrome." Vana ava vanogonawo kuva nezvimwe zviratidzo zvekumeso, uye sezvambotaurwa, shanduko muzvigunwe zvikuru. Zvisinei, nekurapwa kwakakodzera, vana ava vanogona kurarama hupenyu hwakajairika uye kudzidza nehungwaru hwakajairika. Saka, izvi zvinozorodza zvishoma.

Rudzi rwechipiri

Rudzi urwu rwakakomba kupfuura rwekutanga. Rudzi urwu rune matambudziko akaomarara ekukura kwemapfupa mumakumbo. Zviratidzo zvinosanganisira:

• Kusakwanisa kukotama zvakanaka nekutambanudza gokora nemapfundo emabvi.
• Matambudziko etsinga.
• Kuremara kwepfungwa.

Murudzi urwu, ganda remusoro rinoita se "tri-lobed" kana "cloverleaf". Izvi zvinoreva kuti pane chitarisiko chakazvimba, chakabuda kumativi ese uye pamberi pemusoro. Kana rudzi urwu rukasarapwa nekukurumidza, runogona kuisa hupenyu panjodzi.

Rudzi rwechitatu

Izvi zvakakomba sezvakaita rudzi rwechipiri. Zvisinei, hauzooni chimiro cheganda remusoro che "carnation" munyaya iyi. Pane kudaro:

• Hwaro hwedehenya hupfupi.
• Mazino anogona kunge aripo pakuzvarwa (mazino ekuzvarwa).
• Maziso anoita seari kubuda mumaburi awo (ocular proptosis).
• Panogona kunge paine kusagadzikana kwe visceral.

Kufanotaura kwechirwere cherudzi rwechitatu hakuna kunakawo. Kana chikasarapwa, pane mukana mukuru wekufa.

Saka sezvamunoona, kuoma kwemhando imwe neimwe yezvirwere izvi zvitatu kunosiyana. Ndosaka kuongororwa nekukurumidza uye kurapwa kwakakosha.

Pfeiffer Syndrome yakajairika zvakadii?

Izvi chaizvoizvo chirwere chemajini chisingawanzoitiki. Zvichienderana nehuwandu, munhu mumwe chete pavana vanozvarwa zviuru zana ndiye ane chirwere ichi. Izvi zvinoreva kuti hachiwanzoitiki.

Ndezvipi zviratidzo zvePfeiffer Syndrome?

Sezvatakambokurukura, chikonzero chikuru ndechekuvharika kwematehwe pakati pemapfupa emusoro wemwana panguva yekuzvitakura. Mushure meizvozvo, uropi hwemwana hunoramba huchikura. Izvi zvinowedzera kumanikidzwa mukati memusoro wemwana, zvichikonzera zvimwe zvinhu zvinokanganisa chitarisiko chemwana. Izvi zvinosanganisira:

• Musoro wacho unoratidzika sewakakura kupfuura zvakajairika, kazhinji uine huma refu.
• Maziso akabudikira kana kuti daro rakareba pakati pemaziso.
• Mhino yacho inova yakapinza uye yakaita semuromo.
• Nekuda kwehukuru hudiki hweshaya , mazino acho anoungana pamwe chete uye anodhonzwa pamwe chete.

Pamusoro pezvo, kune zvimwe zvinhu zvemuviri:

• Zvigunwe zvikuru nezvigunwe zvikuru zvakafara uye zvakaiswa zvakasiyana nezvimwe zvigunwe.
• Minwe inogona kunamirwa pamwe chete kana kuti kubatanidzwa newebhu.

Zviratidzo izvi hazvifanani kune mwana wese. Zvinogona kusiyana zvichienderana nekuoma kwechirwere chacho.

Pfeiffer Syndrome inokanganisa sei muviri wemwana?

Nekuti dehenya remwana rinokura nekukurumidza panguva yekukura kwemwana ari mudumbu, anogona kusangana nematambudziko akasiyana-siyana. Mamwe acho anosanganisira:

• Hydrocephalus: Apa ndipo apo mvura yakaita semvura inoungana yakakomberedza uropi, ichiwedzera kumanikidzwa mukati medehenya.
• Matambudziko emazino: akadai sekukuya nekuruma mazino.
• Kurasikirwa nekunzwa.
• Kuomerwa nekufamba nekuda kwekuti majoini haashande zvakanaka.
• Kutadza kufema zvakanaka pakurara.
• Kutadza kufema nemhino (kuvharika kwenzira yekufema).
• Matambudziko ekuona.

Matambudziko aya anoda kurapwa nekukasika uye kurapwa kwenguva refu.

Chii chinokonzera chirwere chePfeiffer?

Chikonzero chikuru chechirwere ichi kuchinja, kana kuti kuchinja, mumajini.Izvi zvinoita kuti jini riri kutaurwa rimire kushanda nemazvo. Kazhinji, shanduko iyi inoitika mujini rinonzi FGFR2 (fibroblast growth factor receptor). Zvisinei, inogonawo kukonzerwa nekuchinja kwejini rinonzi FGFR1. Pane imwe nguva, shanduko yakafanana yakawanikwawo mujini reFGFR3.

Zvichitaurwa zviri nyore, shanduko iyi yemajini inokanganisa kutaurirana pakati pemapuroteni anobatsira masero kukura (fibroblast growth factors) nemareceptor awo. Nekuda kweizvozvo, panguva yekukura kwemwana, uropi hwemwana husati hwanyatsokura, machira ari pakati pemapfupa edehenya anovhara. Zvadaro, uropi pahunokura, mapfupa edehenya akavharwa anosundidzirana, achichinja chimiro chawo, uye zvichikonzera kukura kusingawanzoitiki munzvimbo dzakasiyana dzemuviri.

Kuchinja kwemajini uku kunogona kutorwa kubva kune mumwe wevabereki (autosomal dominant). Kana kuti, kunogona kuva shanduko itsva, isina kurongeka muDNA yemwana (de novo mutation). Zvakaonekwa kuti kuchinja uku kusina kurongeka kunowanzoitika kana baba vaine makore anopfuura 40-45 panguva yekuzvarwa kwemwana.

Mamiriro ezvinhu aya anokanganiswa naani?

Chirwere chePfeiffer chirwere chisingawanzoitiki, asi chinogona kuitika kune chero ani zvake. Hachisi chinhu chinogona kukonzerwa nemunhu nemaune, uye hachisi chinhu chinogona kudzivirirwa. Saka, zvakakosha kuziva izvi.

Pfeiffer Syndrome inoonekwa sei?

Dambudziko iri rinogona kuonekwa kunyangwe mwana asati aberekwa. Pane dzimwe nguva apo kusarongeka kwemapfupa emwana kunogona kuonekwa panguva yemwana ari mudumbu kuburikidza nekuongorora kwe ultrasound kwemwana asati aberekwa kana bvunzo dze magnetic resonance imaging (MRI).

Zvisinei, chirwere ichi chinowanzo simbiswa mushure mekunge mwana azvarwa. Chiremba anogona kuongorora mwana mumuviri uye anogona kuita computed tomography scan (CT scan) kana MRI kuti aone kana paine zvisina kumira zvakanaka mudehenya nemamwe mapfupa. Kuongororwa kwemajini, uko kunotsvaga shanduko mumajini eFGFR1 neFGFR2, kunogonawo kusimbisa chirwere ichi.

Ndeipi mishonga yekurapa Pfeiffer Syndrome?

Kurapwa kwechirwere ichi kunoenderana nezviratidzo. Chiremba wemwana wako anogona kukurudzira kuvhiyiwa kwakasiyana-siyana kuti agadzirise matambudziko ekukura kwemapfupa.

Kurapa nekukurumidza kunoitwa nekuvhiyiwa kuderedza kumanikidzwa kwedehenya (craniosynostosis) sezvo uropi hwemwana huchikura. Kana, kana mvura ikawanda mudehenya (hydrocephalus), chubhu diki (shunt) inopinzwa mudehenya kuti ibudise mvura iri mudehenya. Kuvhiyiwa uku kunowanzoitwa mwana asati asvitsa mwedzi mina.

Mugore rekutanga remwana, vanachiremba vanogonawo kukurudzira kuvhiyiwa kuti vavhure dehenya kuti uropi hukwanise kukura.

Mushure maizvozvo,Kuvhiyiwa kwekugadzirisa uye kushongedza kunoitwa kugadzirisa kusawirirana kwechiso, kuvhura nzira dzekufema, uye kudzoreredza chimiro chedehenya.

Chinhu chakakosha ndechekuti, vachitungamirirwa nachiremba wemwana, vana vazhinji vane Pfeiffer Syndrome vanogona kubatsirwa kusvika padanho ravo rakazara.

Ndeapi marapirwo aripo ekuderedza matambudziko ePfeiffer Syndrome?

Pamusoro pekuvhiyiwa, kune nzira dzekurapa dzinobatsira kuderedza matambudziko echirwere ichi.

• Kurapa mazino nekurapa mazino emazino emhando yepamusoro sekudzikisa mazino uye mukanwa marefu.
• Kurapa maziso kwevanotadza kuona zvakanaka.
• Kushandisa zvinhu zvinobatsira kunzwa kune vane matambudziko ekunzwa.

Zvese izvi zvinoitirwa kubatsira mwana kurarama hupenyu hwakajairika sezvinobvira.

Pane mushonga wakakwana weizvi here?

Zvinosuwisa kuti pari zvino hapana mushonga wePfeiffer Syndrome. Kuvhiyiwa nedzimwe nzira dzekurapa dzakanangana nekuderedza zviratidzo zvemwana uye kumubatsira kukura zvakanaka.

Chii chaunofanira kutarisira semubereki wemwana ane Pfeiffer Syndrome?

Pfeiffer Syndrome chirwere chinogara kwenguva refu chisina mushonga. Chiremba wemwana wako achagadzira hurongwa hwekurapa hunobatsira kudzora zviratidzo. Izvi zvinogona kusanganisira kuvhiyiwa kwakasiyana-siyana.

• Kana mwana wako aine chirwere cheType 1 Pfeiffer syndrome, hupenyu hwake hunogona kunge hwakajairika.
• Zvisinei, vana vane chirwere chePfeiffer cherudzi rwechipiri kana rwechitatu vanogona kuva nematambudziko akawanda uye kurarama kwenguva pfupi kana vakasarapwa .

Saka, zvakakosha zvikuru kuenda nemwana wako kunoongororwa hutano hwake nguva nenguva kuti azive nezvematambudziko ehutano kana kukura kwaangave nawo paanokura.

Ndingaderedza here njodzi yekuva nemwana ane Pfeiffer Syndrome?

Kana uri kutarisira mwana, taura nachiremba wako nezvemazano ezvemajini uye kuongororwa kwemajini. Kana iwe kana mumwe wako muine FGFR1 kana FGFR2 gene mutation, pane njodzi ye50% yekuti mwana wenyu achagara nhaka. Izvi zvinoreva kuti kana muine mwana, pane mukana we50-50 wekuti achava nechirwere ichi kana kuti kwete.

Zvisinei, kana vabereki vese vasina chirwere ichi, njodzi yekuti mwana wechipiri awane chirwere ichi yakaderera zvikuru. Zvisinei, hazvigone kunzi hapana zvachose, nekuti shanduko dzemajini dzataurwa kare (de novo mutations) dzinogona kuitika.

Ndinofanira kuona chiremba wemwana wangu rini?

Kana mwana wako aine Pfeiffer Syndrome, ziva zvinotevera:

• Kana mwana achinetseka kufema.
• Kana nzvimbo yekuvhiyiwa isiri kupora zvakanaka, yachinja ruvara, yakazvimba, kana kuti ine manyoka (izvi zvinogona kureva hutachiona).
• Kana mwana asiri kuzadzisa matanho ekukura akakodzera zera rake.
• Kana vakasateerera mirairo iri nyore, inotaurwa kana kuti vakagara vachibatwa nezvirwere munzeve.

Kana ukaona chimwe chinhu chakadai, enda kuna chiremba nekukasika.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Zvakanaka kubvunza mibvunzo yakaita seiyi:

• Ndeipi nzira yakanakisisa yekurapa mwana wangu?
• Ndezvipi njodzi dzinobatanidzwa nekuvhiyiwa kwekurapa chirwere ichi?
• Kana ndikava nemumwe mwana, pane njodzi here yekuti iyewo awane chirwere ichi?

Pamusoro pemibvunzo iyi, bvunza chiremba chero chauri kufunga nezvacho.

Mwana waPrince aivewo nePfeiffer Syndrome here?

Ehe, ichi chiitiko chinozivikanwa zvikuru. Mubhuku rake ra2017, rinonzi The Most Beautiful: My Life with Prince, Mayte Garcia, mudzimai wemuimbi ane mukurumbira Prince, akatsanangura kuti mwana wavakaita muna 1996 aive nePfeiffer syndrome type 2. Zvinosuwisa kuti mwana akafa achiri mucheche nekuda kwematambudziko makuru akakonzerwa nechirwere ichi. Garcia anotsanangura kuti iye kana Prince havana kuva nechirwere ichi, uye kuti mwana uyu anonzi ndiye akachikonzera nekuda kwekuchinja kwemajini matsva. Izvi zvinoratidza kuti chirwere ichi chakakomba sei uye kuti dzimwe nguva chinogona kunge chisingatarisirwi.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Pfeiffer Syndrome chirwere chisingawanzoitiki uye chakaoma. Chinogona kuda kuvhiyiwa kakawanda kuti kuderedze zviratidzo. Zvisinei, nekurapwa kwakakodzera uye kutarisirwa kwakanaka kwechiremba, mwana wako anogona kukura nekudzidza sevamwe vana. Zvisinei, pane zvimwe zvinetso zvaunofanira kuziva.

Kana mumwe munhu mumhuri yako aine Pfeiffer Syndrome, uye uri kutarisira mwana, zvakakosha kuti uwane mazano ezvemajini. Izvi zvichakubatsira kuona kana mwana wako ari panjodzi yekuva nechirwere ichi.

Ndinovimba ruzivo urwu ruchakubatsira. Yeuka kuti hausi wega. Zvakakosha zvikuru kuwana rutsigiro kubva kuna vanachiremba nemhuri paunenge uchitarisana nemamiriro ezvinhu akadai.

Pfeiffer syndrome, Pfeiffer syndrome, zvirwere zvemajini, dehenya, craniosynostosis, hutano hwemwana, jini reFGFR, kuvhiyiwa