Nws tsis tshua hnov txog tus kab mob xws li Crigler-Najjar syndrome. Tab sis, hmoov tsis, qhov kev kuaj mob no tuaj yeem ua rau ib tus menyuam hauv ib lab. Nws yuav zoo li tias qhov no yog ib qho kab mob tsawg heev, tab sis niaj hnub no, nyob rau hauv lub hnub nyoog ntawm noob caj noob ces, kev hloov pauv tau pom ntau zaus. Cia peb saib seb tus kab mob no yog dab tsi thiab yuav kho li cas rau qhov no.
Discovery keeb kwm
Nws yuav tsum tau hais tias qhov mob no tau tshawb pom tsis ntev los no, xyoo 1952 ntawm lub xyoo pua xeem. Ob tug kws kho mob, Kriegler thiab Nayyar, soj ntsuam cov me nyuam yug tshiab, thawj zaug tau piav qhia txog cov tsos mob txawv txawv ntawm jaundice. Kev tshawb fawb ntxiv tau coj mus rau kev txheeb xyuas cov kab mob hauv lub siab. Hauv cov menyuam yaus, kev tsis ncaj ncees bilirubin tau nce ntau, uas tom qab ntawd muaj kev cuam tshuam rau lub cev tag nrho. Raws li kev kuaj sim, bilirubin tau nce mus rau 765 µmol / L, thaum nws tseem nyob hauv cov kev txwv no thoob plaws hauv lub neej ntawm tus menyuam.
Tom qab ib ntus, cov npoj yaig pom cov tsos mob zoo sib xws hauv cov menyuam yausmuaj hnub nyoog, tab sis nrog ib tug feature. Bilirubin tsuas yog 15 npaug siab dua li qub thiab txo qis rau ib txwm nyob hauv lub neej. Tsis muaj tshuaj lom rau lub cev. Raws li qhov tshwm sim ntawm cov kev soj ntsuam no, tus kab mob tau txais nws lub npe tam sim no: Crigler-Najjar syndrome, uas tau piav qhia thawj zaug los ntawm ob tug kws kho mob.
Kev piav qhia kab mob
Crigler-Najjar Syndrome yog kab mob caj ces. Lub tsev kho mob ntawm tus kab mob no qhia nyob rau hauv kaj jaundice thiab mob loj heev neurological teeb meem. Jaundice raug kuaj pom thawj zaug tom qab yug me nyuam thiab tseem nyob mus ib txhis. Cov kab mob tshwm sim sib npaug ntawm cov tub thiab ntxhais. Txij li jaundice yog ib qho kev tshwm sim ntawm daim siab teeb meem, hauv qee tus neeg mob lub cev no loj tuaj.
Cov tsos mob ntawm CNS kev puas tsuaj tshwm sim thaum menyuam mos, qee zaum hauv thawj hnub ntawm lub neej. Lawv qhia nyob rau hauv cov leeg nro, involuntary twitching ntawm lub qhov muag, arching ntawm nraub qaum, thiab convulsions. Cov me nyuam mob, raws li txoj cai, lag tom qab hauv kev loj hlob ntawm lub hlwb thiab lub cev. Muaj ob hom kab mob no. Crigler-Najjar syndrome hom 1 thiab 2 tuaj yeem muaj cov tsos mob sib txawv.
Type 1 tsos mob
Hmoov tsis zoo, hom 1 Crigler-Najjar syndrome yog tus cwj pwm los ntawm kev kawm nce qib. Thawj cov tsos mob tshwm sim hauv thawj teev ntawm lub neej. Tus menyuam yaus dhau los ua yellowness ntawm cov dawb ntawm ob lub qhov muag thiab tawv nqaij, uas txawv ntawm qhov tshwm sim tom qab yug menyuam jaundice. Nws tsis ploj mus tom qab ob peb hnub, thiab convulsions ntxiv rau cov tsos mob,involuntary txav ntawm lub cev thiab ob lub qhov muag. Sij hawm dhau mus, kev puas hlwb cuam tshuam nrog bilirubin encephalopathy tuaj yeem pom.
Cov ntsuas ntawm cov tshuaj dawb bilirubin thaum ntsuas nce mus rau 324-528 µmol / l, qhov tseeb, nws yog 15-50 npaug siab dua li cov qauv. Intoxication ntawm lub hlwb nyob rau hauv cov ntaub ntawv no ua rau tuag nyob rau hauv ib tug luv luv lub sij hawm. Hauv qhov tshwj xeeb, cov menyuam no muaj sia nyob mus rau hnub nyoog kawm ntawv.
Tim 2 cov tsos mob
Thawj cov tsos mob tshwm sim tom qab ntau dua li hom 1. Tus kab mob tuaj yeem tshwm sim nws tus kheej hauv thawj xyoo ntawm lub neej. Qee cov menyuam yaus tsis muaj mob daj ntseg mus txog rau thaum hluas, thiab cov kab mob neurological tsis tshua muaj. Cov tsos mob zoo ib yam li hom 1, tab sis tsis hnyav li. Bilirubin encephalopathy tuaj yeem tshwm sim tom qab kis kab mob lossis kev ntxhov siab hnyav.
Biochemical tsis ntawm cov ntshav hauv hom 2 yog qis dua - qib ntawm bilirubin yog li 200 µmol / l. Qhov ntsuas no qhia tau hais tias kev ua haujlwm ntawm enzyme glucuronyl transferase tsawg dua 20% ntawm cov qauv. Cov kua tsib muaj bilirubin-gluguronide. Kev kuaj mob nrog Phenobarbital yog qhov zoo.
Bilirubin encephalopathy
Dab tsi yog qhov txaus ntshai ntawm Crigler-Najjar syndrome? Cov tsos mob ntawm tus kab mob yog tshwm sim nyob rau hauv cov tshuaj lom ntawm lub paj hlwb nyob rau hauv plaub theem. Nyob rau hauv thawj theem, tus me nyuam coj apathetically thiab sluggishly heev. Qhov no yog manifested nyob rau hauv tsis zoo nqus, ib tug so ntawm lub xeev, ib tug ntse tshuaj tiv thaiv rau extraneous suab. Nyob rau tib lub sij hawm, lub quaj ntawm tus me nyuam yog monotonous, nwsfeem ntau nto qaub ncaug thiab txawm ntuav, nws ob lub qhov muag yog wandering, zoo li nws tau poob ib yam dab tsi. Ua pa yuav qeeb.
theem ob tuaj yeem kav ntev li ob peb hnub mus rau ob peb lub hlis. Tus me nyuam ua nruj, cov leeg ntawm lub cev coj mus rau qhov chaw tsis zoo, txhais caj npab tas li clenched rau hauv lub nrig, nraub qaum arches. Lub suab quaj los ntawm monotonous hloov mus rau hauv ib qho ntse heev, qhov nqus reflex thiab cov tshuaj tiv thaiv rau lub suab ploj. Muaj convulsions, snoring, tsis nco qab.
Lub sijhawm thib peb yog tshwm sim los ntawm lub sijhawm ntawm kev txhim kho tsis tseeb hauv lub xeev. Tag nrho cov tsos mob yav dhau los yuav ploj mus ib ntus.
theem plaub yuav tshwm sim thaum muaj hnub nyoog 5 hli thiab pom meej cov tsos mob ntawm lub cev thiab kev puas hlwb. Tus me nyuam tsis tuav nws lub taub hau, tsis ua raws li cov khoom txav, tsis teb rau lub suab ntawm cov neeg hlub. Nws tsim convulsions, paresis, tuag tes tuag taw. Hmoov tsis zoo, hom 1 mob hlwb lom tshwm sim sai heev, thiab tus menyuam tuag thaum yau.
Ua rau kab mob
Qhov laj thawj tseem ceeb ntawm tus kab mob nyob hauv cov noob. Lawv cuam tshuam kev tsim ntawm qee yam enzyme, uas yog lub luag haujlwm rau kev tsim cov bilirubin. Feem ntau, tus kab mob no cuam tshuam rau cov neeg Esxias ntawm lub ntiaj teb. Lub mutating noob yog kis nyob rau hauv ib tug autosomal recessive yam. Hauv qhov no, ob leeg niam txiv ntawm tus menyuam tuaj yeem ua tus kabmob ntawm kev hloov pauv, tab sis ua tib zoo noj lawv tus kheej. Ib tug ntawm cov niam txiv kuj tuaj yeem ua tus cab, ces qhov tshwm sim ntawm qhov tshwm sim ntawm tus kab mob yuav yog 50 txog 50%.
Hereditary noob mutation ua rauQhov tseeb tias lub cev tsis tuaj yeem khi dawb bilirubin nrog glucuronic acid. Thiab qhov no, nyob rau hauv lem, ua rau lub fact tias dawb bilirubin tshuaj lom lub cev, nkag mus rau hauv cov ntshav-hlwb barrier, uas tsis ua hauj lwm nyob rau hauv cov me nyuam mos. Tus menyuam lub hlwb raug tshuaj lom, qhov twg tshuaj lom bilirubin accumulates.
Kev kho mob
Rau cov menyuam yaus uas kuaj pom muaj tus mob Crigler-Najjar, kev kho mob txhawm rau tshem tawm bilirubin dawb ntawm lub cev. Nws tseem yog ib qho tseem ceeb los tiv thaiv kev txhim kho ntawm lub hlwb puas tsuaj.
Kho nws, cov tshuaj siv los ua kom cov haujlwm ntawm uridine diphosphate-glucuronidase, ib qho enzyme uas ua rau cov txheej txheem tsis tuaj yeem hauv daim siab. Rau qhov no, Phenobarbital yog siv ntawm qhov ntau npaum li 5 mg ib kilogram ntawm lub cev hnyav ib hnub. Nws yuav tsum raug sau tseg tias nws muaj txiaj ntsig zoo tshwj xeeb ntawm Crigler-Najjar type 2 syndrome. Nrog hom 1, lub cev xyaum tsis ua rau Phenobarbital.
Rau ob hom kab mob, kev kho duab kho mob tau ua tiav, txhaj tshuaj plasma, thiab hloov pauv hloov pauv. Txhua tus txheej txheem npaj los hloov daim siab - rau cov menyuam yaus uas muaj hom 1, qhov no tsuas yog txoj hauv kev kom muaj sia nyob.
Diagnosis
Hnub no, cov tshuaj muaj peev xwm tsim cov kab mob xws li Crigler-Najjar syndrome. Cov tsos mob thiab kev kho mob tau piav qhia rau lub sijhawm ntev, thiab tam sim no, nrog kev pab ntawm kev kuaj DNA, nws muaj peev xwm los txiav txim siab txog cov caj ces predisposition rau cov kab mob txawm tias nyob hauv lub tsev menyuam. Tom qab tus menyuam yug los, kev kuaj DNA muab cov lus teb tseeb txog seb puas muaj kev hloov pauv hauv qee cov noob.
Tsis tas li, nrog kev txhim kho jaundice, kev sim nrog "Phenobarbital" ua tiav. Qhov tshwm sim ntawm kev tshuaj ntsuam qhia txog hom kab mob.
Thaum Crigler-Najjar syndrome raug xav tias, keeb kwm raug coj los ntawm niam txiv thiab kuaj DNA ua tiav kom paub meej qhov kev kuaj mob.
tiv thaiv kab mob
Kev tiv thaiv rau Crigler-Najjar syndrome yog txhawm rau tiv thaiv qhov tshwm sim ntawm qhov teeb meem.
Nyob rau hauv hom I syndrome, nws yog ib qho tseem ceeb heev los tiv thaiv kev loj hlob ntawm bilirubin encephalopathy, vim nws ua rau tus neeg mob tuag ntxov ntxov.
Hauv hom II syndrome, kev tiv thaiv los qhia rau tus neeg mob txog qhov xwm txheej uas tuaj yeem ua rau muaj tus kab mob hnyav dua. Cov no yog cov kab mob sib kis, overexertion, cev xeeb tub, haus cawv thiab tshuaj tsis muaj kev saib xyuas ntawm tus kws kho mob. Tag nrho cov no tuaj yeem ua rau muaj kev nce hauv bilirubin hauv cov ntshav thiab ua rau muaj kev mob hnyav heev. Nws tsis tuaj yeem piav qhia txhua qhov xwm txheej hauv kab lus no, vim tias Crigler-Najjar syndrome (kev kho mob, ua rau, cov tsos mob uas peb tau txiav txim siab) tuaj yeem tshwm sim hauv cov menyuam yaus ib leeg.
