Mwana wako mudiki ava kuita yero here? Ingava chirwere cheCrigler-Najjar here? Ngatikurukurei nezvazvo!

Tinoziva kuti zvakajairika kuti vacheche vacheche vaone ruvara rweyero paganda ravo, kana kuti jaundice. Kazhinji, izvi zvinopera mukati memazuva mashoma. Zvisinei, dzimwe nguva ruvara rweyero urwu runogona kunge rwakanyanya kupfuura zvakajairika uye runogara kwenguva refu. Ndipo patinofanira kunetseka zvishoma. Nekuti, izvi zvinogona kunge zvichikonzerwa neCrigler-Najjar Syndrome, chirwere chisingawanzoitiki asi chinogona kunge chakakomba chemajini. Saka, ngatitaurei nezvazvo zvakadzama nhasi.

Chii chinonzi Crigler-Najjar Syndrome?

Zvichitaurwa zviri nyore, Crigler-Najjar Syndrome chirwere chisingawanzoitika chinoitika kana paine chinhu chine chepfu chakawandisa chinonzi `(Bilirubin)` muropa redu. Iye zvino ungangove uchishamisika kuti `(Bilirubin)` iyi chii, handiti?

Funga nezvazvo, masero matsvuku eropa ari mumuviri wedu ane nguva yakatarwa yekurarama. Kana nguva iyoyo yekurarama yapera, anofa. Iyi pigment yeyero inogadzirwa kana masero matsvuku eropa aputsika inonzi `(Bilirubin).` Kazhinji, izvi zvinoitika mumuviri wemunhu ane hutano: Chiropa chedu chinotora iyi `(Bilirubin)`, chobvisa hunhu hwayo hune chepfu, choishandura kuita chinhu chisina chepfu. Zvadaro chinoburitswa mumuviri netsvina.

Zvisinei, chiropa chemunhu ane chirwere cheCrigler-Najjar hachikwanise kuputsa bilirubin iyi nemazvo. Zvadaro, bilirubin ine chepfu inotanga kuungana muropa. Ichi chirwere chakakomba chinogona kuisa hupenyu panjodzi kana chikasarapwa nemazvo.

Pane mhando dzeCrigler-Najjar syndrome here?

Ehe, kune mhando mbiri huru dzeCrigler-Najjar Syndrome:

• Rudzi 1 (CN1): Urwu ndirwo rudzi rwakanyanya kuipa uye rune njodzi kuhupenyu. Vana vazhinji vane chirwere ichi vanoomerwa nekurarama nekuda kwematambudziko echirwere ichi, kunyanya kukuvara kweuropi. Kurapwa nekukurumidza uye kwakasimba kwakakosha.
• Rudzi rwechipiri (CN2): Ichi chirwere chisina kunyanya kuipa pane rudzi rwekutanga. Vana vane rudzi urwu vane zviratidzo zvishoma nekuti chiropa chinokwanisa kugadzirisa bilirubin kusvika pamwero wakati. Nokudaro, vanogona kurarama hupenyu hwakajairika.

Chirwere ichi chinobata ani? Chinowanzoitika sei?

Crigler-Najjar Syndrome chirwere chemajini chinogona kukanganisa chero munhu. Chinokonzerwa nekuchinja kwemajini kunonzi `(UGT1A1)`. Fungidzira, kana vabereki vese vari vatakuri vejini iri rakakanganisika, uye mwana akagamuchira kopi yejini iri rakakanganisika kubva kwavari vese, chirwere ichi (ndiko kuti, `(Autosomal Recessive)`) chinoitika. Kana jini iri rakakanganisika richibva kuna amai chete kana kuna baba chete, rinogona kunge riri chirwere chisina kunyanya kuipa, senge `(Gilbert's Syndrome)`, uye chimwe chirwere chine chekuita ne`(Bilirubin)`.

Chirwere cheCrigler-Najjar chinokanganisa mwana mumwe chete pavana vacheche miriyoni pasi rose. Izvi zvinoreva kuti chirwere chisingawanzoitiki.

Izvi zvinokanganisa sei muviri wemwana?

Kana mwana wako aine chirwere ichi, ganda rake nemaziso ake machena zvinoshanduka kuita yero. Izvi zvinonzi jaundice. Izvi zvinoitika nekuti chiropa hachikwanise kugadzirisa bilirubin nemazvo, zvichikonzera kuunganidzwa kwebilirubin muropa. Kunyange hazvo jaundice ichiwanzoitika muvana vacheche, vacheche vane Crigler-Najjar syndrome vanogona kuva nejaundice kwenguva yakareba, zvichida muhupenyu hwavo hwese.

Izvi zvinogona kuisa upenyu panjodzi. Nekuti kana muviri wemwana wako ukawana bilirubin yakawandisa, inogona kufamba ichienda kuuropi uye inokonzera kukuvara kweuropi kusingagadzirisiki. Izvi zvinonzi Kernicterus. Saka, vanachiremba vachagadzirisa hurongwa hwekurapa hunoenderana nezviratidzo zvemwana wako kudzivirira migumisiro iyi ine njodzi.

Ndezvipi zviratidzo zveCrigler-Najjar syndrome?

Kuoma kwezviratidzo kunosiyana zvichienderana nerudzi (Rudzi 1 kana Rudzi 2). Rudzi 1 ndirwo rwakanyanya kuoma.

Kana mwana achangoberekwa aine chirwere ichi, ganda rake nemachena emaziso ake zvinoshanduka kuita yero, iyo inonzi jaundice. Jaundice inowanzoonekwa muvana vacheche nekuti chiropa chavo hachina kukura zvakakwana. Izvi zvinowanzova nani mukati mevhiki yekutanga kana maviri ehupenyu hwavo. Zvisinei, muvana vane chirwere cheCrigler-Najjar, jaundice iyi inoramba iripo mushure mekuzvarwa.

Chii chinonzi Kernicterus?

Kana bilirubin ikawanda muuropi hwemwana, tsinga, uye nyama, vana vane chirwere cheCrigler-Najjar vanowana chirwere chinonzi kernicterus. Kernicterus chirwere chinouraya chinokuvadza uropi. Zviratidzo izvi zvinowanzoonekwa mushure memwedzi kana kupfuura, kana muhudiki. Dzimwe nguva, zviratidzo izvi zvinogona kuonekwa gare gare muhupenyu, kungave kana kurapwa kweCrigler-Najjar syndrome kukamiswa, kana kana mazinga ebilirubin akangoerekana awedzera nekuda kwechimwe chirwere (fivha, hutachiona), kana kana chiropa chemwana chakakuvara.

Zviratidzo zvishoma zvekernicterus zvinogona kusanganisira:

• Kusagadzikana
• Kurwadziwa kwetsandanyama
• Matambudziko ekunzwa (kunzwa, kuona, kunzwa)
• Kuomerwa nekuita mabasa akanaka (semuenzaniso, kubata chimwe chinhu, kubhatanidza zvinhu, nezvimwewo)
• Kufamba-famba kusingadzoreki kwakadai sekutenderera nekumonereka kwemuviri nguva dzose (Choreoathetosis)
• Enamel yemazino haisi kukura zvakanaka

Zviratidzo zvikuru zveKernicterus zvinogona kusanganisira:

• Kuoma kwekunzwa kana kunzwa matsi
• Kuneta zvakanyanya, hope dzisingaperi (Nethargic)
• Kuoma kudya nekumedza
• Kupindwa nechando
• Kusvotwa kana kurutsa
• Dzimwe nguva tsandanyama dzinoerekana dzaitikaKushaya simba (Hypotonia) uye/kana dzimwe nguva kuomarara kwetsandanyama (Hypertonia)
• Matambudziko ekukura kwepfungwa

Chikonzero cheizvi chii?

Sezvatakambotaura, chikonzero chikuru cheizvi ikushanduka kwejini kunonzi `(UGT1A1)`. Iri jini `(UGT1A1)` rinorayira chiropa kuti chigadzire enzyme inonzi glucuronyl transferase. Iyi enzyme inokosha zvikuru nekuti inobatsira kushandura `(Bilirubin)` kubva pa "isina kusanganiswa" kuenda ku "yakasanganiswa" uye kuibvisa mumuviri.

Funga nezvazvo seizvi: Bilirubin tsvina yeyero. Chiropa chakafanana nefekitori. Mukati mefekitori iyi, mune vashandi vanonzi ma enzymes anogadzirwa nejini reUGT1A1. Basa ravo nderekutora iyi bilirubin "yakaipa" voishandura kuita bilirubin "yakanaka", inonyungudika mumvura uye inogona kubviswa nyore nyore mumuviri. Zvadaro inosanganiswa nenyongo, inopfuura nemudumbu, uye inoburitswa mutsvina.

Zvisinei, kana uine shanduko mujini re`(UGT1A1)`, "ma enzymes" iwayo (ma enzymes) haagadzirwe nemazvo, kana kuti haagone kushanda nemazvo. Ipapo "zvakaipa", zvine chepfu `(Bilirubin)` iyoyo inoungana muropa nematishu. Kana chimwe chinhu chakadai chine chepfu chikaungana muropa, kana chikasarapwa nemazvo, zviratidzo zvinotyisidzira hupenyu zvinogona kuitika.

Unoona sei izvi?

Kana mwana wako aine jaundice, zvinoreva kuti huwandu hwebilirubin hwakakwira kupfuura zvaitarisirwa mumwana achangoberekwa, kana kuti jaundice ikanyanya kuipa mumazuva mashoma ekutanga kana mavhiki mushure mekuzvarwa, unofanira kuona chiremba nekukasika. Pamusoro pekuongororwa kwemuviri, chiremba achaita mimwe miedzo yakati wandei kuti aone kuti nei ganda nemachena emaziso ari eyero. Miedzo inoshandiswa kuongorora Crigler-Najjar Syndrome ndeiyi:

• Kuongororwa kwemajini: Izvi zvinobatsira kuwana shanduko mujini (UGT1A1) iri kukonzera zviratidzo.
• Blood Bilirubin Level Test: Iyi inoyera huwandu hwese hwebilirubin muropa, pamwe ne "bad" bilirubin (unconjugated bilirubin).
• Kuongororwa kwebasa rechiropa: Tarisa kuti chiropa chiri kushanda zvakanaka sei.
• Ungangodawo kutora chidimbu chidiki chechiropa (liver biopsy) wochiongorora kuti uone mashandiro eenzyme.

Chiremba achakubvunzawo kana paine munhu mumhuri yako akambova nezvirwere zvemajini zvakadai, kuti azive kuti chirwere chacho chakaitika sei asati aita bvunzo.

Ndezvipi zvinorapwa izvi?

Chinangwa chikuru chekurapa Crigler-Najjar Syndrome ndechekuderedza huwandu hwebilirubin mumuviri uye kudzivirira kernicterus. Mishonga iyi inogona kusanganisira:

• Kurapa nePhototherapy: Izvi ndizvoKurapa kukuru uye kunonyanya kushandiswa. Izvi zvinosanganisira kushandisa mwenje yebhuruu chaiyo kubvisa `(Bilirubin)` kuburikidza neganda. Fungidzira, mwenje iyi inochinja chimiro chemamorekuru e`(Bilirubin)`, zvichiita kuti anyungudike mumvura, asanganiswe nenyongo, uye abudiswe mumuviri. Munguva yekurapwa uku, chifukidziro chekudzivirira chinoiswa pamusoro pemaziso emwana uye ganda rakawanda sezvinobvira rinoonekwa pachiedza. Izvi zvinofanirwa kuitwa kwemaawa akati wandei pazuva, pamwe kwehupenyu hwake hwese.
• Kuisirwa chiropa: Uyu ndiwo mushonga wekusingaperi weCN1. Izvi zvinosanganisira kubviswa chiropa chine chirwere nekuvhiyiwa uye kuchitsiva nechiropa chine hutano (kana chikamu chechiropa). Chiropa chitsva chinokwanisa kugadzirisa bilirubin nemazvo, izvo zvinobatsira kudzorera huwandu hwebilirubin pahunhu hwakajairika. Izvi zvinowanzoitwa muhudiki hwese kudzivirira kukuvara kwehuropi.
• Phenobarbital: Mushonga uyu dzimwe nguva unoshandiswa pakurapa CN2. Unogona kuwedzera zvishoma mashandiro ema enzymes echiropa anogadzira bilirubin. Zvisinei, haushande pakurapa CN1.
• Plasmapheresis kana Exchange Transfusion: Nzira idzi dzinoshandiswa kubvisa bilirubin kubva muropa nekukurumidza kana huwandu hwebilirubin hwakwira zvakanyanya, zvichikonzera njodzi yekukuvara kweuropi.
• Dzora fivha nehutachiona: Fivha nehutachiona zvinogona kukonzera mazinga e bilirubin akakwira, saka zvakakosha kuti uzvidzore nekukurumidza.

Pane migumisiro yakaipa here yekurapwa kwacho?

Kurapa nePhototherapy kazhinji inzira yakachengeteka yekurapa. Zvisinei, dzimwe nguva inogona kukonzera ganda rakaoma uye manyoka. Zvakare, unofanira kungwarira nezvemvura inoyerera mumuviri wemwana wako.

Kushandisa mwenje mitsva yebhuruu inonzi "LED" hakunyanyi kukonzera kukuvara kweganda kupfuura mwenje yekare ye fluorescent.

Sezvatinokura uye tichikura, ganda rinokora, izvo zvinogona kuderedza kugona kwechiedza che`(Phototherapy)` kusvika kumamorekuru e`(Bilirubin)`. Izvi zvinogona kuderedza kubudirira kwekurapwa, uye ungangoda kufunga nezvekuisirwa chiropa.

Zvinhu zvekufunga nezvazvo pakuchengeta mwana

Kuchengeta mwana ane Crigler-Najjar Syndrome kunogona kuva dambudziko.

• (Phototherapy)` Zvakakosha zvikuru kuita kurapwa sezvataurwa nachiremba, panguva yakakodzera. Kazhinji, izvi zvinogona kugadziriswa kuti zviitwe kumba.
• Mwana achiri pasi pechiedza, munyaradze, taura naye, uye mubate.
• Kunyorovesa mvura kwakakodzera kwakakosha.
• Gara uchiteerera ruvara rweganda remwana wako, maitiro ake, uye maitiro ake ekudya. Kana ukaona shanduko, taurira chiremba wako nekukasika.
• Kana ukaona zviratidzo zvakaita sefivha, kurutsa, kana manyoka, enda kuna chiremba wako nekukasika.Nekuti zvinhu zvakaita seizvi zvinogona kukonzera kuti mazinga ebilirubin awedzere kamwe kamwe.

Izvi zvinogona kudzivirirwa here?

Kwete. Crigler-Najjar Syndrome haigone kudzivirirwa nekuti chirwere chemajini. Zvisinei, kana uchironga kuva nemwana, kana mumwe munhu mumhuri yako aine chirwere ichi chemajini, kana kuti uchinetseka nacho, taura nachiremba wako nezvemazano emajini uye kuongororwa kwemajini. Izvi zvichakubatsira kuona njodzi yako yekuva nemwana ane chirwere ichi.

Hupenyu huchava hwakaita sei kana paine dambudziko iri? (Kufungidzira)

Izvi zvinoenderana nerudzi rwechirwere (CN1 kana CN2) uye kuti chinorapwa nekukurumidza uye zvinobudirira sei.

• Vana vane rudzi rweCN2 , kana vakarapwa zvakanaka, vanowanzo tarisira kupora zvakanaka uye hupenyu hwavo hwese.
• Vana vane CN1 vari panjodzi huru yekukuvadzwa kweuropi nekuda kwekernicterus kana vakasaonekwa mukati memwedzi mishoma yekutanga yehupenyu hwavo uye vakarapwa ne phototherapy yakanyanya uye vozobva vaisirwa chiropa. Muzviitiko zvakadaro, nguva yekurarama inogona kuderera. Zvisinei, nekurapwa nekukurumidza uye kwakakodzera, kunyanya kuisirwa chiropa, vanogona kurarama hupenyu hwakajairika.

Vanhu vazhinji vanoda kurapwa kwehupenyu hwavo hwese uye kurapwa kwezvirwere.

Pane mushonga usingaperi weizvi here?

Ehe, sezvatakambotaura, kuisirwa chiropa kunogona kurapa Crigler-Najjar Syndrome, kunyanya rudzi rweCN1. Sezvo chiropa chitsva chine hutano chichikwanisa kugadzirisa Bilirubin nemazvo, huwandu hweBilirubin hunodzokera pahwakajairika, zvichibvisa kudiwa kwekurapa nechiedza chezuva.

Ndinofanira kuona chiremba rini?

Crigler-Najjar Syndrome inogona kukonzera zviratidzo zvisingachinjiki uye zvinotyisidzira hupenyu. Saka, kana jaundice yemwana wako ikasavandudzika mukati memazuva mashoma kana kuti ichiita seyava kuipa, enda kuna chiremba nekukasika.

Pamusoro pezvo, kana ukaona chimwe chezviratidzo izvi, enda kuna chiremba nekukasika:

• Kunonoka kukura kwemwana
• Fivha yakanyanya
• Jaundice isingavandudzike kana kuipa mushure mekurapa ne phototherapy
• Kuomerwa nekudya, kuderedza uremu
• Kana mwana achigara akarara uye asina hanya
• Kufamba-famba kwemuviri kusingawanzoitiki kana kusvetuka-svetuka

Mibvunzo yekubvunza chiremba

Paunoenda kunoona chiremba, gadzirira kubvunza mibvunzo yakaita seiyi:

• Mwana wangu ane chirwere cheCrigler-Najjar type 1 kana 2 here?
• Mwana wangu anoda phototherapy kwenguva yakareba sei? Maawa mangani pazuva?
• Pane migumisiro yakaipa here pakurapa uku? Chii chingaitwe nezvazvo?
• Mwana wangu achada kuisirwa chiropa here? Kana zvakadaro, inguva ipi yakanakisisa yekuzviita?
• Kuongororwa kwemwana wangu kwakakomba zvakadini uye chii chandingatarisira mune ramangwana?
• Ndinogona here kuita phototherapy kumba? Ndedzipi michina inodiwa?
• Ndezvipi zvinhu zvandinofanira kunyatsoteerera pandinenge ndichitarisira mwana wangu?
• Ndinofanira kuuya rini kuzoongororwazve?

Kuongororwa kweCrigler-Najjar Syndrome kunogona kuva dambudziko kumwana nevanovachengeta. Zvinonzwisisika kunzwa kutya uye kuzvidya mwoyo kana mwana wako akazvarwa aine ganda nemaziso eyero. Kana uchinzwa kuremerwa, kushushikana, kana kuzvidya mwoyo paunenge uchitarisira mwana wako ane chirwere ichi, zvakakosha kutaura nenyanzvi yezvehutano hwepfungwa uye kuzvitarisira. Kana uine hutano hwakanaka uye wakasimba, unogona kubatsira mwana wako kufamba rwendo urwu.

Saka, ndezvipi zvinhu zvatinofanira kurangarira? (Mharidzo Yekuenda Kumba)

Chirwere cheCrigler-Najjar chirwere chisingawanzoitiki asi chinogona kunge chakakomba mumajini. Chinokosha ndechekuongorora chirwere ichi nekukurumidza uye kutanga kurapwa kwakakodzera.

• Kana jaundice yemwana wako (ruvara rweyero) ichiita seyakanyanya kupfuura zvakajairika, kana kuti ichiita seyakagara kwenguva yakareba, edza kuona chiremba. Usatambisa nguva.
• Kune mhando mbiri dzechirwere ichi; CN1 ndiyo yakanyanya kuipa uye inoda kurapwa nekukurumidza uye kwakasimba.
• Kurapa nePhototherapy ndiko kunonyanya kushandiswa. Kune CN1, kuisirwa chiropa ndiyo mhinduro yakanakisisa uye inogara iripo.
• Ichi chirwere chemajini uye hachigone kudzivirirwa. Zvisinei, zvakakosha kutsvaga mazano emajini pakuronga mhuri.

Chinhu chakakosha kuziva kuti hausi wega. Nerutsigiro rwevanachiremba, mhuri, nevamwe vabereki vane vana vakaita seizvi, unogona kutarisana nedambudziko iri. Nekurapwa kwakakodzera uye kutarisirwa nerudo, unogona kubatsira mwana wako kurarama hupenyu hwakanaka, hwemazuva ese sezvinobvira.

` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Chiropa, Genetic disorder, Kernicterus, Phototherapy, Vacheche