Crigler-Najjar syndrome: chii icho, mhando huru uye kurapwa

Zvemukati

• Main mhando uye zviratidzo
• Crigler-Najjar syndrome mhando 1
• Crigler-Najjar chirwere chechipiri
• Maitiro ekusimbisa kuongororwa
• Kurapwa kunoitwa sei

Crigler-Najjar syndrome chirwere chechiropa chinokonzeresa kuunganidzwa kwebilirubin mumuviri, nekuda kwekuchinja mune iyo enzyme inoshandura chinhu ichi kuti chibviswe kuburikidza nenyuchi.

Shanduko iyi inogona kuve nemadhigirii akasiyana uye chimiro chechiratidzo chekuratidzira, nokudaro, iyo chirwere inogona kunge iri mhando 1, yakanyanya kuomarara, kana mhando 2, yakareruka uye nyore kurapa.

Nekudaro, bilirubin isingakwanise kubviswa uye kuunganidzwa mumuviri inokonzera jaundice, ichikonzera yero ganda uye maziso, uye njodzi yekukuvara kwechiropa kana kudhakwa kwehuropi.

Main mhando uye zviratidzo

Crigler-Najjar syndrome inogona kuiswa muzvikamu zviviri, izvo zvinosiyaniswa nehuremu hwekusaita kwechiropa enzyme inoshandura bilirubin, inonzi glucoronyl transferase, uye zvakare nezviratidzo uye kurapwa.

Crigler-Najjar syndrome mhando 1

Ndiro rudzi rwakakomba kwazvo, sezvo paine kushomeka kwakazara kwechiropa chiitiko chekushandurwa kwebilirubin, iyo yakaunganidzwa mukuwandisa muropa uye inokonzeresa zviratidzo kunyangwe pakuzvarwa.

• Zviratidzo: jaundice yakakomba kubva pakuzvarwa, chiri chimwe chezvikonzero zvehyperbilirubinemia yemwana achangozvarwa, uye kune njodzi yekukuvara kwechiropa uye chepfu yeuropi inonzi kernicterus, umo mune kusagadzikana, kukotsira, kushushikana, coma uye njodzi yekufa.

Dzidza zvakawanda nezve izvo zvinokonzeresa uye maitiro ekurapa mhando dzehyperbilirubinemia yemwana achangozvarwa.

Crigler-Najjar chirwere chechipiri

Mune ino kesi, iyo enzyme inoshandura bilirubin yakadzika kwazvo, kunyangwe ichiripo, uye kunyangwe iriwo yakaoma, jaundice haina kusimba zvakanyanya, uye kune mashoma zviratidzo uye kunetsekana kupfuura rudzi rwe1 syndrome.uropi idiki zvakare, izvo zvinogona kuitika mu Zvikamu zve bilirubin yakakwidziridzwa.

• Zviratidzo: jaundice yekusiyana kusimba, iyo inogona kuve yakapfava kusvika kune yakaoma, uye inogona kuoneka mune mamwe makore muhupenyu hwese. Inogona zvakare kukonzerwa mushure meimwe kushushikana mumuviri, senge hutachiona kana kupera mvura, semuenzaniso.

Kunyangwe paine njodzi kuhutano hwemwana uye hupenyu hunokonzerwa nemhando dzechirwere ichi, zvinokwanisika kudzikisa huwandu uye kuomarara kwezviratidziro pamwe nekurapwa, nefototherapy, kana kutapukirwa kwechiropa.

Maitiro ekusimbisa kuongororwa

Kuongororwa kweCrigler-Najjar syndrome kunoitwa nachiremba wevana, gastro kana hepatologist, zvichibva pakuongorora kwepanyama uye kuongororwa kweropa, izvo zvinoratidza kuwedzera kwemazinga ebirirubin, kuwedzera pakuongororwa kwechiropa kushanda, neASST, ALT uye albumin, ye muenzaniso.

Iko kuongororwa kunosimbiswa neDNA bvunzo kana kunyangwe nechiropa biopsy, iyo inokwanisa kusiyanisa rudzi rwechirwere.

Kurapwa kunoitwa sei

Mushonga wekurapa wekudzikira kwemazinga ebirirubin mumuviri, muCrigler-Najjar syndrome mhando 1, iri phototherapy ine bhuruu mwenje kwemaawa gumi nemaviri pazuva, ayo anogona kusiyana zvichienderana nezvinodiwa nemunhu mumwe nemumwe.

Phototherapy inoshanda nekuti inoputsa uye inoshandura bilirubin kuitira kuti igone kusvika bile uye kubviswa nemuviri. Mushonga uyu unogona zvakare kuperekedzwa nekuwedzerwa kweropa kana kushandisa bilirubin chelating zvinodhaka, senge cholestyramine uye calcium phosphate, kuvandudza kushanda kwayo, mune dzimwe nguva. Dzidza zvakawanda nezve izvo zvinoratidza uye kuti phototherapy inoshanda sei.

Kunyangwe izvi, sezvo mwana achikura, muviri unova unoramba kurapwa, sezvo ganda rinowedzera kuramba, richida maawa akawanda uye akawanda ekuporesa.

Nekurapa kweCrigler-Najjar syndrome yerudzi rwechipiri, phototherapy inoitwa mumazuva ekutanga ehupenyu kana, kune mamwe mazera, chete senge fomu rekuwedzera, sezvo rudzi urwu rwechirwere rwune mhinduro yakanaka pakurapwa nemushonga Fenobarbital, inogona wedzera chiitiko cheiyo enzyme yechiropa iyo inobvisa bilirubin kuburikidza ne bile.

Nekudaro, iyo yekurapa chaiyo yechero ipi yemhando dzechirwere inongowanikwa chete nekuisirwa chiropa, mune izvo zvakakosha kuti uwane mupi anowirirana uye uve nemamiriro epanyama ekuvhiya. Ziva kana zvichiratidzwa uye sei kupora kubva pakuisirwa chiropa.