Crigler-Najjar chirwere

Crigler-Najjar syndrome chirwere chisingawanzo kuwanikwa nhaka umo bilirubin haigone kuputswa. Bilirubin chinhu chakagadzirwa nechiropa.

Enzyme inoshandura bilirubin muchimiro chinogona kubviswa zviri nyore kubva mumuviri. Crigler-Najjar syndrome inoitika kana iyi enzyme ikasashanda nemazvo. Pasina iyi enzyme, bilirubin inogona kuvaka mumuviri uye inotungamira ku:

• Jaundice (yero discoloration yeganda nemeso)
• Kukuvadza kune uropi, mhasuru, uye tsinga

Type I Crigler-Najjar ndiyo fomu yechirwere icho chinotanga kutanga muhupenyu. Type II Crigler-Najjar syndrome inogona kutanga gare gare muhupenyu.

Iyo syndrome inomhanya mumhuri (nhaka). Mwana anofanirwa kugamuchira kopi yeakaremara gene kubva kuvabereki vese kuti akudziridze fomu yakaoma yemamiriro acho. Vabereki vanotakura (vaine jeni rimwe chete risina kukwana) vane hafu yechiitiko chee enzyme yemunhu mukuru, asi HAUNA zviratidzo.

Zviratidzo zvinogona kusanganisira:

• Kuvhiringidzika uye shanduko mukufunga
• Ganda jena (jaundice) uye yero mune akachena emaziso (icterus), ayo anotanga mazuva mashoma mushure mekuzvarwa uye anotonyanya kuwedzera nekufamba kwenguva
• Lethargy
• Kudya zvisina tsarukano
• Kusvipa

Miedzo yechiropa inoshanda inosanganisira:

• Yakagadziriswa (yakasungwa) bilirubin
• Yese bilirubin chikamu
• Unconjugated (unbound) bilirubin muropa.
• Enzyme kuyedza
• Chiropa biopsy

Chiedza kurapwa (phototherapy) inodiwa muhupenyu hwese hwemunhu. Muvacheche, izvi zvinoitwa pachishandiswa magetsi ebilirubin (bili kana 'bhuruu' mwenje). Phototherapy haishande zvekare mushure memakore mana, nekuti ganda rakakora rinovhara mwenje.

Kuiswa kwechiropa kunogona kuitwa mune vamwe vanhu vane chirwere I chirwere.

Kuwedzerwa ropa kunogona kubatsira kudzora huwandu hwe bilirubin muropa. Calcium compounds dzimwe nguva inoshandiswa kubvisa bilirubin mumatumbu.

Iyo mushonga phenobarbitol dzimwe nguva inoshandiswa kurapa mhando II Crigler-Najjar syndrome.

Mafomu akaomarara echirwere (mhando II) haakonzere kukuvara kwechiropa kana shanduko mukufunga panguva yehucheche. Vanhu vanokanganiswa nefomu nyoro vachiri nejaundice, asi vane zvishoma zviratidzo uye zvishoma kukuvara kwemitezo.

Vacheche vane chimiro chakakomba chechirwere (mhando I) vanogona kuramba vaine jaundice mukukura, uye vangangoda kurapwa kwemazuva ese. Kana ikasarapwa, chimiro chakakomba chechirwere ichi chinotungamira kurufu muhucheche.

Vanhu vane chirwere ichi vanosvika mukukura vanozokuvara huropi nekuda kwejaundice (kernicterus), kunyangwe nekurapwa nguva dzose. Hupenyu hunotarisirwa hwerudzi rwechirwere I makore makumi matatu.

Zvinogona kuitika zvinosanganisira:

• Chimiro chekukuvara kwehuropi kunokonzerwa nejaundice (kernicterus)
• Chisingaperi yero ganda / maziso

Tsvaga magene ekuraira kana iwe uri kuronga kuva nevana uye uine nhoroondo yemhuri yaCrigler-Najjar.

Fonera wako mupi wezvehutano kana iwe kana mwana wako achangozvarwa ane jaundice isingaendi.

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri yeCrigler-Najjar syndrome vanoda kuve nevana. Kuongororwa kweropa kunogona kuzivisa vanhu vane hutachiona hwakasiyana.

Glucuronyl transferase kushomeka (mhando I Crigler-Najjar); Arias syndrome (mhando II Crigler-Najjar)

• Chiropa anatomy

Kaplan M, Wong RJ, Burgis JC, Sibley E, Stevenson DK. Neonatal jaundice uye chirwere chechiropa. Mune: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff naMartin's Neonatal-Perinatal Mushonga. 11th ed. Philadelphia, PA: Elsevier; 2020: chits. 91.

Lidofsky SD. Jaundice. Muna: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger uye Fordtran's Gastrointestinal uye Chirwere Chiropa. 11th ed. Philadelphia, PA: Elsevier; 2021: chitsiko 21.

Peters AL, Balistreri WF. Metabolic zvirwere zvechiropa. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 384.