Crigler-Najjar syndrome

Crigler-Najjar syndrome yog ib qho kev mob uas tsis tshua muaj muaj uas tso tsis tau cov bilirubin. Bilirubin yog ib yam khoom uas ua los ntawm lub siab.

Ib qho enzyme hloov bilirubin rau hauv ib daim ntawv uas yooj yim tshem tawm ntawm lub cev. Crigler-Najjar syndrome tshwm sim thaum lub enzyme no ua haujlwm tsis raug. Yog tias tsis muaj enzyme no, bilirubin tuaj yeem tsim ntau ntxiv hauv lub cev thiab ua rau:

• Jaundice (daj li tawv nqaij thiab qhov muag)
• Kev puas tsuaj rau lub hlwb, cov leeg, thiab leeg

Hom I Crigler-Najjar yog hom mob uas tshwm sim thaum ntxov lub neej. Hom II Cov Neeg Txawv Plaub Ntug-Najjar syndrome yuav pib tom qab lub neej.

Tus mob khiav hauv tsev neeg (niam txiv caj ces). Ib tug menyuam yuav tsum tau txais ib daim ntawv theej tawm ntawm cov muaj muaj tsis taus ntawm ob tus niam txiv txhawm rau txhim kho hom mob hnyav. Cov niam txiv uas yog tus neeg nqa khoom (muaj ib qho tib lub cev tsis xws luag) muaj li ib nrab ntawm cov enzyme ntawm ib tus neeg laus ib txwm, tab sis TSIS TXHOB muaj cov tsos mob.

Cov tsos mob tuaj yeem suav nrog:

• Tsis meej pem thiab hloov pauv kev xav
• Cov tawv nqaij daj (daj daj) thiab daj daj hauv qhov muag ntawm lub qhov muag (icterus), uas pib ob peb hnub tom qab yug los thiab muaj kev zuj zus dua
• Qaug zog
• Pluag mov noj
• Ntuav

Kev kuaj mob rau daim siab ua haujlwm muaj xws li:

• Conjugated (ua txhua yam) bilirubin
• Tag nrho bilirubin qib
• Tsis kaw (tsis khi) bilirubin hauv ntshav.
• Enzyme pom
• Mob siab me me

Yuav tsum tau kho mob me me (kho duab ci ntsa iab) thoob plaws tus neeg lub neej. Hauv cov menyuam mos, qhov no tau ua los siv cov teeb bilirubin (bili lossis 'xiav' teeb). Kev thaij duab tsis ua haujlwm zoo li tom qab muaj hnub nyoog 4 xyoos, vim tias daim tawv tuab tuab thaiv qhov kaj.

Kev kuaj mob rau daim siab ua tau nyob hauv qee tus neeg uas muaj tus mob I.

Kev txhaj ntshav ntxiv tuaj yeem pab tswj cov bilirubin hauv cov ntshav. Qee zaum cov calcium ntxiv yog siv los tshem cov bilirubin hauv lub plab.

Cov tshuaj phenobarbitol qee zaum siv los kho hom II Crigler-Najjar syndrome.

Cov hom mob me (hom II) tsis ua rau lub siab puas lossis hloov pauv kev xav thaum menyuam yaus. Cov neeg uas cuam tshuam nrog rau daim ntawv me me tseem muaj lub ntsej muag daj, tab sis lawv muaj cov tsos mob tsawg dua thiab muaj cov khoom nruab nrog cev tsawg dua.

Cov menyuam mos uas mob hnyav (hom I) tej zaum tseem yuav muaj lub ntsej muag daj ntseg ua neeg laus, thiab yuav tsum tau muaj kev kho mob txhua hnub. Yog tias tsis kho, hom mob hnyav no yuav ua rau tuag thaum tseem yau.

Cov neeg muaj tus mob no uas tuaj txog rau neeg laus yuav muaj mob rau lub hlwb puas vim yog daj ntseg (daj ntseg), txawm hais tias muaj kev kho mob ib txwm muaj. Lub neej cia siab rau hom kabmob I yog 30 xyoo.

Cov teeb meem tshwm sim muaj xws li:

• Ib daim ntawv ntawm lub hlwb puas tsuaj los ntawm jaundice (kernicterus)
• Mob / daim tawv daj ntev ntev

Nrhiav kev qhuab qhia txog caj ces yog tias koj tab tom npaj yuav muaj menyuam thiab muaj keeb kwm tsev neeg ntawm Crigler-Najjar.

Hu koj tus kws kho mob yog tias koj lossis koj tus menyuam mos yug daj muaj lub ntsej muag daj uas tsis ploj.

Kev tawm tswv yim rau caj ces tau raug pom zoo rau cov neeg muaj keeb kwm tsev neeg ntawm tus mob Crigler-Najjar syndrome uas xav muaj menyuam. Kev kuaj ntshav tuaj yeem txheeb xyuas cov tib neeg uas muaj qhov txawv txav ntawm caj ces.

Glucuronyl transferase deficiency (hom I Crigler-Najjar); Cov Mob Hlwb Aria (hom II Crigler-Najjar)

• Nplooj siab anatomy

Kaplan M, Wong RJ, Burgis JC, Sibley E, Stevenson DK. Neonatal jaundice thiab mob siab. Hauv: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff thiab Martin's Neonatal-Perinatal TshuajCov. 11th ed. Philadelphia, PA: Elsevier; 2020: cha 91.

Lidofsky SD. Qhov muag daj. Hauv: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger thiab Fordtran's Gastrointestinal thiab Kab Mob SiabCov. 11th ed. Philadelphia, PA: Elsevier; 2021: chap 21.

Peters AL, Balistreri WF. Cov kab mob metabolic ntawm daim siab. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 384.