Mwana wako ane chirwere ichi cheganda chisingawanzoitiki here? Ngatikurukurei nezveHarlequin Ichthyosis

Ganda remwana achangoberekwa rinowanzova rakapfava uye rakapfava, handiti? Asi funga nezvazvo, dzimwe nguva vamwe vana vanoberekwa vaine matambudziko eganda asingawanzoitiki, akakomba zvishoma. Chimwe chakadaro chisingawanzoitiki, uye pakutanga kuona, chirwere cheganda chinonzi Harlequin Ichthyosis. Unganzwa kunetseka zvishoma paunonzwa nezvazvo, asi ngatitaure nezvazvo zvakadzama uye zviri nyore.

Chii chinonzi Harlequin Ichthyosis?

Zvichitaurwa zviri nyore, Harlequin Ichthyosis chirwere cheganda chisingawanzoitiki chinokanganisa vacheche vachangoberekwa. Kana mwana akazvarwa aine chirwere ichi, muviri wake wese unenge wakafukidzwa nemaplate eganda akakora, akaomarara, ane makwapa. Anotaridzika sezvidimbu zvakaita sedhaimani. Maplate aya akaomarara zvekuti anogona kutsemuka nekubviswa.

Kuoma kweganda uku kunogona kutochinja chimiro chechiso chemwana. Nzvimbo dzakadai kwenzeve, maziso emwana, mhino, nemuromo zvinogona kutapudzwa uye kuremara. Kwete izvozvo chete, asi kufamba kwemakumbo nemakumbo kunogona kushoma, uye zvinogona kutonetsa kudya nekufema.

Ganda redu rakaita sechidziviriro pakati pemuviri wedu nenzvimbo yatinogara. Asi munyaya iyi yeHarlequin Ichthyosis, chidziviriro ichi chinokanganiswa nekuda kwekusagadzikana kweganda remwana. Zvadaro, heano matambudziko anomuka:

• Zvinova zvakaoma kudzora kuburitswa kwemvura mumuviri.
• Tembiricha yemuviri haigone kuchengetwa zvakanaka.
• Kukwanisa kurwisa hutachiona kunoderera.

Izvi zvinoita kuti mwana ave nyore kubatwa nekushaya mvura mumuviri uye zvirwere zvakakomba zvinogona kutyisidzira hupenyu hwake mumavhiki ekutanga ehupenyu hwake. Mushure memwedzi wekuzvarwa, zvidimbu izvozvo zvakakora zvinobviswa zvishoma nezvishoma, zvichiita kuti ganda remwana rionekwe serakatsvuka uye rine makwapa.

Harlequin Ichthyosis ndiyo mhando yakanyanya yechirwere cheganda chinonzi ichthyosis. Kune mhando dzinopfuura makumi maviri dzakasiyana dze ichthyosis. Mienzaniso inosanganisira lamellar ichthyosis uye ichthyosis vulgaris. Kare, vana vanozvarwa neHarlequin Ichthyosis vairarama zvishoma. Zvisinei, nekurapwa kwepamusoro uye kurapwa kwakanyanya, vacheche vane mukana wakakura wekurarama muhudiki nekukura.

Chirwere ichi chinozivikanwa nemamwe mazita:

• ``Autosomal recessive congenital ichthyosis — harlequin type ichthyosis''
• `Harlequin baby syndrome`
• `Mwana weHarlequin`
• `Ichthyosis congenita`
• `Ichthyosis fetalis`

Dambudziko iri rakajairika zvakadii?

Ichi chirwere chisingawanzoitiki. Kunyangwe munyika yakaita seUnited States, chirwere ichi chinobata mwana mumwe chete pavana 300,000 kusvika 500,000 vanoberekwa.Iyi inyaya isingawanzoitika muSri Lanka.

Ndezvipi zviratidzo zveHarlequin Ichthyosis?

Vacheche vane Harlequin Ichthyosis vanowanzo berekwa nguva isati yakwana. Pavanozvarwa, miviri yavo inenge yakafukidzwa nemakwande akakora, akaita seplate. Ganda racho rakakora zvekuti mitswe yakadzika inoumba pakati pemakwande. Uyewo, maziso emwana nemiromo zvinotenderedzwa mukati nekuda kweganda richitambanuka. Chipfuva nedumbu zvinotambanudzwa zvakasimba, zvichiita kuti zviome kufema nekudya.

Heano mamwe zviratidzo:

• Aine mhino yakati sandara.
• Nzeve dzakaiswa sekunge dzakanamirwa mumusoro.
• Maoko netsoka zvinova zvidiki uye zvinozvimba.
• Kunzwa kusina kujairika.
• Zvirwere zvekufema zvinowanzoitika.
• Kufamba kwemajoini kushoma.
• Kupisa muviri kwakaderera.

Chii chinokonzera izvi?

Chikonzero chikuru cheHarlequin Ichthyosis ikushanduka kwemajini mujini rinonzi ABCA12 . Iri jini reABCA12 rinorayira muviri wedu kugadzira puroteni inokosha pakukura kwemasero eganda ane hutano. Rimwe remabasa akakosha epuroteni iyi kutakura mafuta kuenda kune rimwe divi rekunze kweganda, epidermis, uye kugadzira chipingamupinyi chinodzivirira.

Muvanhu vane chirwere ichi, muviri haubudisi mapuroteni akawanda eABCA12 kana kuti haubudisi zvachose. Izvi zvinokanganisa kukura kweganda reganda, zvichikonzera zviratidzo zvakakomba.

Dambudziko iri rinogara nhaka nenzira ye autosomal recessive. Izvi zvinoreva kuti mwana anofanira kugara nhaka makopi maviri ejini rakakanganiswa - rimwe kubva kuna amai nerimwe kubva kuna baba. Vabereki vese vanogona kutakura jini rakachinja. Izvi zvinoreva kuti vane jini racho, asi kazhinji havaratidzi zviratidzo.

Ndezvipi zvinetso zvinogona kuitika?

Matambudziko eHarlequin Ichthyosis anogona kusiyana pakuoma. Mamwe ematambudziko anosanganisira:

• Kukura kwebvudzi kwakaderera.
• Kusasimba kwembambo.
• Ganda rinowanzo kurutsa.
• Kuomerwa nekutsungirira kupisa nekutonhora.
• Kurwara kweganda kunowanzoitika.
• Kusawirirana kwema electrolyte mumuviri.
• Kuoma uye kuoma kwemhasuru, marunda, ganda, nedzimwe nyama.
• Kunetseka nekufema uye kutadza kushanda.
• Sepsis chirwere chinotapukira uye chakaipisisa chinokonzerwa nebhakitiriya.

Kuongororwa kwechirwere kunoitwa sei?

Kazhinji, vanachiremba vanogona kuona chirwere ichi pakuzvarwa zvichibva pakuonekwa kwemwana. Kana mumwe munhu mumhuri akambova nechirwere ichi, kuongororwa kwemajini emwana asati aberekwa kunogona kuitwa panguva yekuzvitakura.Vanachiremba vanogona kukurudzira kuti vaongorore shanduko dzejini reABCA12. Zvakare, dzimwe nguva kuongororwa kweultrasound kunoitwa mukati memwedzi mitatu yechipiri neyechitatu yekuzvitakura kunogona kuona zviratidzo zvechirwere ichi.

Ndeipi mishonga yekurapa Harlequin Ichthyosis?

Mwana ane chirwere ichi paanongoberekwa, anopinzwa muChikamu Chekuchengetedza Vana Vachiri Kuzvarwa (NICU) . Ikoko, mwana anoiswa muIncubator ine hunyoro hwakawanda kuti abatsire kudzora tembiricha yemuviri wemwana. Aya ndiwo maitirwo anoitwa vanamukoti pakutarisira mwana:

• Kuyamwisa nguva nenguva.
• Geza muviri wako nguva dzose kuti ganda rive rakapfava uye ribatsire kubvisa makwande.
• Kuti ubvise makwande, dzimwe nguva pukuta zvinyoro nyoro nechinhu chakaita sedombo repumice kana chipanji chisina kusimba.
• Isa mafuta ekudzivirira ganda kuti ganda risaome uye kuti ganda rive nyore kusveta.

Kana mwana wako aine chirwere chakakomba cheHarlequin Ichthyosis, unogona kumurapa nemushonga we retinoid unonzi etretinate . Mushonga uyu unobatsira kubvisa ganda gobvu, rine mavanga. Unogonawo kubatsira kuderedza zviratidzo zvakaita sekuoma kweminwe, kuoma kufema, kuoma kwechipfuva, uye kuoma kudya. Zvisinei, ma retinoids aya anogona kukonzera migumisiro yakaipa kana akashandiswa kwenguva refu, saka vanachiremba vanongoashandisa chete kana mwana wako aine zviratidzo zvakakomba.

Kutarisirwa kweNICU (Intensive Care Unit)

Mwana wako paanenge ari muchikamu chevana vanozvarwa (NICU), vanachiremba vane hunyanzvi nevashandi vanochengeta mwana wako zvakanyanya. Vanogara vachitarisa tembiricha yemuviri, huwandu hwemvura mumuviri, uye zviratidzo zvehutachiona . Vanoshandisa madhiragi akakosha uye mafuta ekuzora kuti ganda rirambe rakanyorova. Dzimwe nguva, mwana angangoda kupiwa chikafu kuburikidza nechubhu.

Mishonga yakakosha

Pamusoro pemishonga inotorwa nemuromo yataurwa pamusoro apa, uchadawo mishonga inorwisa utachiona kudzivirira hutachiona, mishonga inoderedza marwadzo, uye mafuta ekuderedza kuoma uye kuvaviwa. Zvese izvi zvinofanirwa kushandiswa sezvakarairwa nachiremba wako.

Boka rekurapwa kwenguva refu

Kunyangwe uchigona kuendesa mwana wako kumba mushure mekunge ganda rake rakora radonha, ucharamba uchida kurapwa nekutarisirwa nguva dzose. Harlequin Ichthyosis inoda rubatsiro rwechikwata chevanachiremba vane hunyanzvi hwakasiyana-siyana. Chikwata ichi chinogona kusanganisira:

• Vanachiremba vevana vacheche
• Vanachiremba veganda
• Vanachiremba vepurasitiki
• Nyanzvi dzezvemajini
• Vanachiremba vemaziso
• Vanachiremba vemaziso (nyanzvi dzenzeve, mhino, uye pahuro)
• Varapi vemuviri
• Vanachiremba vemapfupa
• Nyanzvi dzezvekudya

Chikwata ichi chekurapa chinoshanda kuti chipe mwana kurapwa kwakakodzera muhupenyu hwake hwese.

Chii chandingatarisira kana mwana wangu aine chirwere ichi?

Harlequin Ichthyosis chirwere chisingaperi, zvichireva kuti chinoda kutarisirwa kweupenyu hwese. Saka, zvakakosha kutsvaga chiremba weganda ane hunyanzvi muchirwere ichi. Izvi zvichaita kuti mwana wako awane kurapwa kwakakodzera muhupenyu hwake hwese. Zvakakoshawo kutanga chirongwa chekuchengetedza ganda zuva nezuva chichabatsira kudzora matambudziko eganda (ganda rine mavanga, rakatsemuka, kana rinokwenya). Chirongwa ichi chichafanirwa kutevedzerwa muhupenyu hwake hwese.

Kuwedzera pamatambudziko eganda, minwe nezvigunwe zvemwana zvinogona kuoma uye kuoma . Izvi zvinogona kumuomera kubata zvinhu. Zvakare, zvitsitsinho nemabvi zvinogona kuoma, zvichiita kuti zvimuomere kufamba. Panogonawo kuva nekunonoka mukukura kwemuviri wemwana . Zvisinei, kukura kwepfungwa kunofanira kuitika zvakajairika.

Kuchengeta mwana akadai ibasa rakaoma, asi zvakakosha zvikuru kuita nemazano akakodzera echiremba, rudo, uye mwoyo murefu.

Ndeipi tarisiro yechirwere ichi?

Pasinei nekufambira mberi mukurapa Harlequin Ichthyosis, zvinosuwisa kuti vamwe vacheche vachiri kufa nekuda kwechirwere ichi. Mune imwe ongororo, 44% yevana vanozvarwa vaine chirwere ichi vakafa. Zvikonzero zvikuru zverufu mumwedzi mitatu yekutanga yehupenyu hwaive sepsis, kutadza kufema, kana kusanganiswa kwezvose zviri zviviri.

Zvisinei, kurapwa nekukurumidza nemishonga yakaita seretinoids yemuromo kwakaratidzwa kuti kunowedzera mwero wekurarama. Muchidzidzo chimwe chete chambotaurwa, 83% yevana vakarapwa neretinoids yemuromo vakapona.

Ko Harlequin Ichthyosis inogona kudzivirirwa here?

Ichi chirwere chemajini uye hachigone kudzivirirwa. Kana mumwe munhu mumhuri yako aine chirwere ichi, kana kuti akambova nacho kare, zvakanaka kutaura nachiremba nezvekuongororwa kwemajini kana mazano ezvemajini . Ruzivo irworwo runogona kubatsira pakusarudza nezvekuva nemumwe mwana.

Ndingatarisira sei mwana wangu?

Kana mwana wako aine chirwere ichi, hezvino zvimwe zvinhu zvekubatsira kumuchengeta:

• Dzidza nezvechirwere chemwana wako zvakakwana. Verenga zvinyorwa zvinovimbika uye edza kuva nyanzvi panyaya iyi.
• Chengeta mwana aine hutano hwakanaka sezvinobvira.Ipai chikafu chinovaka muviri, iva nechokwadi chekuti varovedza muviri zvakakwana, uye vaendesei kunoongororwa nachiremba nenguva.
• Tsvaga zvinoshanda kumwana wako. Mwana wese akasiyana. Zvinoshanda kune mumwe munhu zvingasashanda kune mumwe. Gadzira purogiramu yezuva nezuva yekuchengeta ganda inoenderana nezvinodiwa nemwana wako.
• Funga nezvenharaunda yemwana. Mamiriro ekunze akaoma zvakanyanya, anotonhora, kana anopisa, pamwe chete ne "mhepo inomanikidzwa kupisa," zvinogona kuita kuti ganda remwana riome zvakanyanya uye rive nyore kusimba. Izvi zvinogonawo kukanganisa hutano hwemwana.
• Gara uine kit yekuchengetedza ganda rako. Gara uine bhegi rine zvinhu zvinodiwa nemwana wako, zvakaita se sunscreen, mafuta ekuzora, uye mishonga inoderedza marwadzo.
• Ipa mwana wako mutoro. Zvishoma nezvishoma, mwana wako achadzidza kutarisira ganda rake. Ipa mwana wako mutoro wekutarisira ganda rake.
• Vachiri vacheche: Kurudzirai kutarisirwa kweganda neganda uye kuyamwisa.

Mibvunzo inokosha yekubvunza chiremba wako

Kana mwana wako aine Harlequin Ichthyosis, ungave nemibvunzo yakawanda. Heano mimwe mibvunzo yaunogona kubvunza chiremba:

• Harlequin Ichthyosis inorwadza here?
• Sei izvi zvakanyanya kupfuura mamwe marudzi e ichthyosis?
• Munokurudzira mwana wangu kurapwa kupi?
• Ndingabatsira sei mwana wangu kurarama hupenyu hwakajairika?
• Ndezvipi zvinhu zvinogona kukonzera dambudziko remwana uye zvinofanira kudziviswa?
• Hazvina kunaka here kuti mwana wangu abude ari muzuva?
• Ndezvipi zvimwe zvinetso kana matambudziko ehutano andinofanira kungwarira?
• Ndingawana kupi network yakanaka yekutsigira?

Pakupedzisira, yeuka izvi ! (Mharidzo Yekuenda Kumba)

Zvakajairika kunzwa kutya uye kushamisika paunoona kuti mwana wako ane chirwere chisingawanzoitiki chakadai seHarlequin Ichthyosis. Unganzwa uri wega uye usingazive zvekuita. Asi chinonyanya kukosha kutsvaga vanachiremba vane ruzivo nezvechirwere ichi. Vanogona kubatsira mwana wako kugadzirisa chirwere ichi, uye kukutungamira kuti uwane rubatsiro nerutsigiro rwaunoda.

Kutaura nevamwe vabereki vane vana vane zvirwere zvakafanana kunogona kuva simba guru. Nekugovana ruzivo nemazano, unogona kuwana nzira dzekubatsira mwana wako kurarama zvakanaka. Hazvisi nyore kuona mwana wako achirarama nechirwere cheganda chisingawanzoitiki, asi yeuka, kune vana vazhinji vari kurarama vachifara nezvirwere izvi. Hausi wega. Neruzivo rwakakodzera, rutsigiro, uye rudo, unogona kutarisana nedambudziko iri.

'Harlequin Ichthyosis, chirwere cheganda chine majini, mamiriro eganda revana vachangobva kuzvarwa, gene reABCA12, ichthyosis, chinodzivirira ganda, kutarisirwa kwevana vacheche, retinoids