Crigler-Najjar chirwere: tsananguro, zvinokonzera, zviratidzo uye kurapwa

Quite kashoma kunzwa nezvechirwere ichi sezvo Crigler-Najjar syndrome. Asi zvinosuwisa, chirwere ichi chinogona kuisa mwana mumwe ari miriyoni. Zvingaita kuti uyu apo neapo chirwere, asi nhasi, mune zera masero kunotouraya dzakaonekwa kakawanda. Ngatitarisei kuti chirwere ichi uye chii kurapwa iyi.

History yakawanikwa

Ndinofanira kutaura kuti chirwere ichi chiri pachena zvakarurama yapfuura, muna 1952, remakore yokupedzisira. Two wevana, Kriegler uye Nayyar, akataririra vana vachangoberekwa kokutanga rakarondedzera kujairika jaundice zviratidzo. Uyezve ongororo kwakakonzera kuti kuziva zvokurwara chiropa. In vana zvakanzi akakwidziridzwa zvakasimba kunanga bilirubin, iyo zvino ine chepfu zvainoita seboka. Maererano sokuongorora kwomurabhoritari, bilirubin akanga yakawedzera kusvika 765 mmol / L, apo yakaramba mukati mitemo iyi yose upenyu mwana.

Pashure pechinguva nevamwe vakawana zviratidzo zvakafanana kuvana vakura, asi ane monyorora. Bilirubin akanga akakwidziridzwa nguva kubva ndozvakajairwa 15 chete uye hwose yakaderera kune dzose. Chepfu migumisiro iri muviri haana. Somugumisiro izvi zvakawanika hosha wakaunganidza zita rayo iyezvino: Crigler-Najjar urwere, zvinorondedzerwa kokutanga akaita maviri wevana.

pathography

Crigler-Najjar chirwere ane majini chirwere. kiriniki chirwere runoratidzwa zvakajeka jaundice uye zvakakomba chetsinga zvirwere. Jaundice ari kuona pakutanga maawa azvarwa uye anorambira hwose. Maronda kuitika zvakafanana mune vakomana nevasikana zvakafanana. Sezvo yellowness - iri nokuratidzwa nezvinetso chiropa, zvino vamwe varwere muviri yakawedzera kukura.

Zviratidzo CNS maronda rwakavapo paucheche, dzimwe nguva mumazuva okutanga muupenyu. Ivo runoratidzwa tsandanyama makakatanwa, involuntary twitching ako, hunched mamiriro, uyewo chinyamunhari chinorwadza. Kwakaita vana vanowanzotevedzera lag mumashure hwepfungwa uye kwomuviri. Rinozivisa nezvemarudzi maviri ichi. Crigler-Najjar chirwere mhando 1 ne2 vangava zviratidzo zvakasiyana.

Zviratidzo Type 1

Zvinosuruvarisa Crigler-Najjar chirwere mhando 1 kunoratidzwa mberi kosi. Zviratidzo zvokutanga kuonekwa pakutanga maawa mashoma oupenyu. Mwana anova zvakawanda raidudzwa yellowness pamusoro nevachena kwameso uye ganda kupfuura uye rakasiyana dzose post-Natal jaundice. Hazviiti zvakaitika mazuva mashoma, uye akawedzera kuti zviratidzo nezvipusha, involuntary kufamba muviri uye maziso. Over nguva uchaona retardation pfungwa chokuita bilirubin encephalopathy.

Zviratidzi rusununguko bilirubin mu ongororo zvadarika kuti 324-528 pmol / L, chokwadi, uri pamusoro zvakajairika muna 15-50 nguva. chepfungwa kudhaka iyi nyaya kunotungamirira kurufu mukati pfupi. Pane dzimwe nguva, vana vakadaro vachapona kuchikoro zera.

Zviratidzo Type 2

Zviratidzo zvokutanga kuoneka zvikuru paya pane mhando 1. The chirwere kungazviratidza mumakore okutanga oupenyu. Mune dzimwe vana, jaundice hakuitiki kusvikira kuyaruka, uye chetsinga abnormalities hadziwanzowaniki. Zviratidzo zvakafanana nyora 1, asi kwete rinorema. Bilirubin encephalopathy kunogona kuitika pashure dzakamboitika chirwere kana kuzvidya mwoyo.

Ropa nokukanganisika indices vane mhando 2 dererei zvikuru - pamwero bilirubin vanenge 200 micromoles / fő. Nhamba iyi zvinoratidza kuti basa enzayemu glucuronyl asingasviki 20% dzose. The bile ane bilirubin glyuguronid. Chirwere "pentobarbital" zvakanaka.

bilirubin encephalopathy

Chii rinotyisa chirwere Crigler-Najjar? Zviratidzo zviri chirwere dzinowanikwa chepfu uropi maitikiro mana. In wokutanga chokutambudzika mwana haazvibati usimbe kwazvo uye lethargic. Izvi zvinoratidza pacharo mune murombo anomwa, vasununguke, unopinza mukupindura dzimwe mitinhimira. Chema mwana panguva iyoyo monotonous, kazhinji vomits uye anogona kunyange kunozarura kurutsa, meso ake vachidzungaira, sokunge akanga arasika chinhu. Kufema anogona chichitarisirwa.

Chechipiri danho hunogara kubva mazuva anoverengeka kuti kwemwedzi yakawanda. Mwana anova kusununguka tsandanyama dzomuviri vari ane tyisa chinzvimbo, mubato zvachose vakarumanisa ari chibhakera, musana ndiyo curved chinhu chakakombama. Danidzirai kubva monotonous inova unopinza kwazvo, akarasikirwa yakayamwa dzepanguva uye sei mitinhimira. Kuoneka nezvipusha, ngonono, kurasikirwa chavanoziva.

Wechitatu danho rinowanika nguva kuvandudzika venhema. yapfuura Zviratidzo All inonyangarika kwechinguva.

Wechina danho anogona kuitika 5 months zvoupenyu uye tichiratidza dzakajeka zviratidzo mumuviri uye mupfungwa retardation. The mbudzana iri asingabatisisi Musoro, haasi chamber zvinhu zvinofamba, asingadi kuteerera inzwi vadiwa. Akava kugwinha, paresis, rutivi rwomuviri. Zvinosuruvarisa, Kusvibisa uropi ne mhando 1 ndiko kutsanya chaizvo, uye mwana akafa achiri mucheche.

Zvinokonzera chirwere

The chikuru chinokonzera hosha iri majini. Ivo kwakakanganiswa paumbwe imwe enzayemu riri basa kugadzirwa bilirubin. Vakawanda chirwere ichi vanotambura kubva yokuAsia Vagari panyika. Kusachinja majini iri Kutamiswa ari autosomal recessive nenzira. Muchiitiko chino, vabereki vose mwana anogona kuva vatakuri mutation, asi kuita kuti utano. Zvinogona kuva mutakuri mumwe vabereki, ipapo ndingangokuvara zvinoratidza chirwere ndiyo 50 kusvika 50%.

Nhaka Gene mutation kunotungamirira ndechokuti muviri hausi kukwanisa kusunga vakasununguka bilirubin kuti glucuronic acid. Izviwo, zvinotungamirira kuti vakasununguka bilirubin chepfu nhengo, rakapinza kubudikidza neropa-uropi mhinganidzo, izvo vachangoberekwa haazorambi kushanda. Kusvibisa kwouropi hwomwana iri pachena, iyo rinoungana muchetura bilirubin.

mabatiro

Nokuti vana vari chirwere Crigler-Najjar urwere, kurapwa nechinangwa kubvisa pamuviri vakasununguka bilirubin. Zvinokoshawo kudzivirira kukura chepfu uropi.

Nokuti kurapa aishandisa zvinodhaka dzacho kuwedzera basa uridine diphosphate-glucuronidase enzayemu, zvichiguma kusingarapiki pezvakaitwa ari chiropa. Nokuti chinangwa ichi "Phenobarbital" iri mishonga kumusoro kusvika 5 MG chete kilogram kurema muviri pazuva. Zvinofanira kucherechedzwa kuti kunobatsirawo chete Crigler-Najjar chirwere mhando 2. Apo mumwe mhando muviri kuti "Phenobarbital" kushanda asingadi sei.

In zvose zvirwere phototherapy purogiramu dzinoitwa, akapinda plasma, uye Exchange ropa. dzokurapa All vakagadzirira rekuona kuti aite kuisirwa chiropa - vana vane Type 1 ndiyo chete mukana wokupona.

Diagnostics

To musi, mushonga anokwanisa kuona zvinhu zvinokonzera zvirwere zvakadai Crigler-Najjar syndrome. Zviratidzo uye kurapwa nzira zvinorondedzerwa refu zvikuru, asi iye zvino kushandisa DNA miedzo inogona akafanosarudza nemagene kubatwa kune chirwere ichiri utero. Pashure pakaberekwa mwana DNA Diagnostics anopa mhinduro chaiwo kana pane mutation zvimwe magene.

Uyewo edza kuita kana dzichiri jaundice ne "phenobarbital." The kuongorora mugumisiro inoratidza Chirwere.

Kana uchifungidzira munhu Crigler-Najjar urwere, vabereki kuenda nhoroondo uye aiita DNA nemiedzo kuzosimbisa zviratidzo.

dziviriro chirwere

Matanho ari urwere pakati Crigler-Najjar ine mukudzivirira panowanikwa yematambudziko.

Apo chirwere mhando I kunokosha chaizvo kudzivirira kukura bilirubin encephalopathy, nekuti ndizvo inotungamirira kune vakurumidze kufa murwere.

The chirwere mhando II kudzivirira kunoita kuzivisa murwere ari ezvinhu anogona kukonzera kusembura chirwere chacho. Izvi rakaoma ne zvirwere, overexertion, pamuviri, kubvuma doro uye zvinodhaka pasina kudzora kupinda chiremba. izvi zvose zvinogona kukonzera kuwedzera bilirubin muropa uye kukonzera zvikuru kudhaka. Munyaya ino, hazvibviri kutsanangura zvose zvinoitika, nokuti Crigler-Najjar syndrome (kurapwa, zvinokonzera, zviratidzo izvo inokurukurwa nesu) munogona vana nomumwe.