Koj tus me nyuam puas tig daj? Puas yog nws yog Crigler-Najjar Syndrome? Cia peb tham txog nws!

Peb paub tias nws yog ib txwm muaj rau cov menyuam mos uas muaj daim tawv nqaij daj me ntsis, lossis mob ntshav qab zib. Feem ntau, qhov no yuav ploj mus hauv ob peb hnub. Txawm li cas los xij, qee zaum qhov daj no tuaj yeem ntau dua li qub thiab kav ntev dua. Thaum ntawd peb yuav tsum txhawj xeeb me ntsis. Vim tias, qhov no yuav yog vim Crigler-Najjar Syndrome, ib qho mob caj ces tsis tshua muaj tab sis muaj peev xwm loj heev. Yog li, cia peb tham txog qhov no kom ntxaws me ntsis hnub no.

Crigler-Najjar Syndrome yog dab tsi?

Hais yooj yim xwb, Crigler-Najjar Syndrome yog ib qho mob caj ces tsis tshua muaj uas tshwm sim thaum muaj ntau yam tshuaj lom hu ua '(Bilirubin)' hauv peb cov ntshav. Tam sim no tej zaum koj yuav xav paub tias '(Bilirubin)' no yog dab tsi, puas yog?

Xav txog nws, cov qe ntshav liab hauv peb lub cev muaj lub neej ntev. Thaum lub neej ntawd xaus, lawv tuag. Cov xim daj no uas tsim tawm thaum cov qe ntshav liab tawg hu ua '(Bilirubin).' Feem ntau, qhov no tshwm sim hauv lub cev ntawm tus neeg noj qab haus huv: Peb lub siab noj cov '(Bilirubin)' no, tshem tawm nws cov tshuaj lom, thiab hloov nws mus ua ib yam dab tsi tsis muaj tshuaj lom. Tom qab ntawd nws raug tso tawm ntawm lub cev nrog cov quav.

Txawm li cas los xij, lub siab ntawm ib tus neeg uas muaj tus kab mob Crigler-Najjar syndrome tsis tuaj yeem rhuav tshem cov bilirubin no kom zoo. Tom qab ntawd, cov bilirubin lom pib sib sau ua ke hauv cov ntshav. Qhov no yog ib qho mob hnyav uas tuaj yeem ua rau tuag taus yog tias tsis kho kom zoo.

Puas muaj hom mob Crigler-Najjar syndrome?

Yog, muaj ob hom kab mob Crigler-Najjar Syndrome tseem ceeb:

• Hom 1 (CN1): Qhov no yog hom mob hnyav tshaj plaws thiab ua rau tuag taus. Muaj ntau tus menyuam yaus uas muaj tus mob no nyuaj rau lawv dim vim muaj teeb meem ntawm tus mob, tshwj xeeb tshaj yog lub hlwb puas tsuaj. Kev kho mob sai thiab mob hnyav yog qhov tseem ceeb.
• Hom 2 (CN2): Qhov no yog ib qho mob uas tsis hnyav npaum li hom 1. Cov menyuam yaus uas muaj hom no muaj cov tsos mob tsawg dua vim tias lub siab muaj peev xwm ua cov bilirubin tau qee yam. Yog li ntawd, lawv tuaj yeem ua neej nyob ntev li qub.

Tus mob no cuam tshuam rau leej twg? Nws tshwm sim ntau npaum li cas?

Kab mob Crigler-Najjar yog ib yam mob caj ces uas tuaj yeem cuam tshuam rau leej twg los tau. Nws yog tshwm sim los ntawm kev hloov pauv hauv ib lub noob hu ua '(UGT1A1)'. Xav txog, yog tias ob leeg niam txiv yog cov neeg nqa cov noob caj ces tsis zoo no, thiab tus menyuam tau txais ib daim qauv ntawm cov noob caj ces tsis zoo los ntawm ob leeg, qhov mob no (uas yog, '(Autosomal Recessive)') tshwm sim. Yog tias cov noob caj ces tsis zoo no tsuas yog los ntawm niam lossis tsuas yog txiv xwb, nws yuav yog ib qho mob tsis hnyav, xws li '(Gilbert's Syndrome)', thiab lwm yam mob '(Bilirubin)'.

Kab mob Crigler-Najjar Syndrome cuam tshuam txog li ib ntawm ib lab tus menyuam mos thoob ntiaj teb. Qhov ntawd txhais tau tias nws yog ib qho kab mob tsawg heev.

Qhov no cuam tshuam li cas rau lub cev ntawm tus menyuam?

Yog koj tus me nyuam muaj tus mob no, lawv daim tawv nqaij thiab lub qhov muag dawb yuav daj. Qhov no hu ua mob daj ntseg. Qhov no tshwm sim vim tias lub siab tsis tuaj yeem ua cov bilirubin kom zoo, ua rau muaj bilirubin ntau hauv cov ntshav. Txawm hais tias mob daj ntseg feem ntau tshwm sim rau cov menyuam mos, cov menyuam mos uas muaj Crigler-Najjar syndrome yuav mob daj ntseg ntev dua, tej zaum thoob plaws lawv lub neej.

Qhov no tuaj yeem ua rau tuag taus. Vim tias yog tias koj tus menyuam lub cev tau txais bilirubin ntau dhau, nws tuaj yeem mus rau lub hlwb thiab ua rau lub hlwb puas tsuaj tsis rov qab tau. Qhov no hu ua Kernicterus. Yog li ntawd, cov kws kho mob yuav kho cov phiaj xwm kho mob rau koj tus menyuam cov tsos mob kom tiv thaiv cov teeb meem txaus ntshai no.

Cov tsos mob ntawm Crigler-Najjar syndrome yog dab tsi?

Qhov hnyav ntawm cov tsos mob sib txawv nyob ntawm hom (Hom 1 lossis Hom 2). Hom 1 yog qhov hnyav tshaj plaws.

Yog tias ib tug menyuam mos muaj tus mob no, lawv daim tawv nqaij thiab lub qhov muag dawb yuav tig daj, uas hu ua mob jaundice. Mob jaundice feem ntau tshwm sim rau cov menyuam mos vim tias lawv lub siab tsis tau loj hlob tag nrho. Qhov no feem ntau yuav zoo dua hauv thawj lub lim tiam lossis ob lub lim tiam ntawm lub neej. Txawm li cas los xij, rau cov menyuam mos uas muaj tus mob Crigler-Najjar, tus mob jaundice no txuas ntxiv mus tom qab yug los.

Kernicterus yog dab tsi?

Yog tias bilirubin ntau dhau hauv lub hlwb, cov hlab ntsha, thiab cov nqaij ntawm tus menyuam, cov menyuam uas muaj Crigler-Najjar syndrome yuav muaj tus mob hu ua kernicterus. Kernicterus yog ib yam mob uas ua rau lub hlwb puas tsuaj. Cov tsos mob no feem ntau tshwm sim tom qab ib hlis lossis ntau dua, lossis thaum yau. Qee zaum, cov tsos mob no tuaj yeem tshwm sim tom qab hauv lub neej, yog tias kev kho mob rau Crigler-Najjar syndrome raug tso tseg, lossis yog tias cov bilirubin nce ntxiv sai sai vim muaj lwm yam mob (kub taub hau, kis kab mob), lossis yog tias tus menyuam lub siab puas lawm.

Cov tsos mob me me ntawm kernicterus muaj xws li:

• Kev tsis txawj ntse
• Cov leeg nqaij ntswj
• Teeb meem kev hnov ​​​​​​lus (kev xav, kev pom, kev hnov ​​​​​​lus)
• Ua tsis tau tej hauj lwm zoo (piv txwv li, tuav ib yam dab tsi, khawm tej yam, thiab lwm yam)
• Kev txav mus los uas tsis tswj tau xws li kev tig thiab ntswj ntawm lub cev tas li (Choreoathetosis)
• Cov hniav enamel tsis loj hlob zoo

Cov tsos mob hnyav ntawm Kernicterus muaj xws li:

• Teeb meem hnov ​​lus lossis lag ntseg
• Qaug zog heev, tsaug zog tas li (Lethargic)
• Nyuaj noj mov thiab nqos
• Ua npaws
• Xeev siab los yog ntuav
• Qee zaum cov leeg nqaij cia li poob qisTsis muaj zog (Hypotonia) thiab/lossis qee zaum cov leeg nqaij tawv (Hypertonia)
• Cov teeb meem kev loj hlob ntawm kev paub

Vim li cas ho ua li no?

Raws li peb tau hais ua ntej lawm, qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv hauv cov noob hu ua `(UGT1A1)`. Cov noob `(UGT1A1)` no qhia lub siab kom ua ib qho enzyme hu ua glucuronyl transferase. Cov enzyme no tseem ceeb heev vim nws pab hloov `(Bilirubin)` los ntawm "unconjugated" mus rau "conjugated" thiab tshem nws tawm ntawm lub cev.

Xav txog nws zoo li no: Bilirubin yog cov khoom pov tseg daj. Lub siab zoo li lub Hoobkas. Hauv lub Hoobkas no, muaj cov neeg ua haujlwm hu ua cov enzymes uas tsim los ntawm UGT1A1 gene. Lawv txoj haujlwm yog coj cov bilirubin "phem" no thiab hloov nws mus ua bilirubin "zoo", uas yaj hauv dej thiab tuaj yeem tshem tawm ntawm lub cev tau yooj yim. Tom qab ntawd nws sib xyaw nrog cov kua tsib, hla dhau cov hnyuv, thiab raug tso tawm hauv cov quav.

Txawm li cas los xij, yog tias koj muaj kev hloov pauv hauv cov noob '(UGT1A1)', cov "neeg ua haujlwm" (enzymes) ntawd tsis tau tsim tawm kom raug, lossis lawv tsis tuaj yeem ua haujlwm kom raug. Tom qab ntawd cov "phem", lom '(Bilirubin)' ntawd yuav sib sau ua ke hauv cov ntshav thiab cov nqaij. Thaum ib yam dab tsi zoo li cov tshuaj lom no sib sau ua ke hauv cov ntshav, yog tias tsis kho kom zoo, cov tsos mob uas yuav ua rau tuag taus tuaj yeem tshwm sim.

Koj kuaj qhov no li cas?

Yog tias koj tus menyuam muaj mob daj ntseg, uas txhais tau tias qib bilirubin siab dua li qhov xav tau hauv tus menyuam mos, lossis yog tias mob daj ntseg zuj zus sai sai hauv ob peb hnub lossis ob peb lub lis piam tom qab yug los, koj yuav tsum mus ntsib kws kho mob tam sim ntawd. Ntxiv nrog rau kev kuaj lub cev, tus kws kho mob yuav ua ntau yam kev kuaj mob ntxiv kom paub tseeb tias vim li cas daim tawv nqaij thiab dawb ntawm lub qhov muag thiaj li daj. Cov kev kuaj mob siv los kuaj mob Crigler-Najjar Syndrome yog:

• Kev kuaj noob caj noob ces: Qhov no pab nrhiav qhov kev hloov pauv hauv cov noob caj noob ces (UGT1A1) uas ua rau muaj cov tsos mob.
• Kev Ntsuas Qib Bilirubin Hauv Ntshav: Qhov no ntsuas tag nrho cov bilirubin hauv cov ntshav, nrog rau bilirubin "phem" (bilirubin tsis sib txuas).
• Kev kuaj mob siab: Xyuas seb lub siab ua haujlwm zoo li cas.
• Tej zaum koj yuav tau muab ib daim me me ntawm lub siab (kev kuaj lub siab) thiab kuaj xyuas nws kom paub tseeb tias cov enzyme ua haujlwm li cas.

Tus kws kho mob kuj tseem yuav nug koj seb puas muaj leej twg hauv koj tsev neeg tau muaj cov mob caj ces no, kom paub txog kev kuaj mob ua ntej ua qhov kev kuaj mob.

Cov kev kho mob rau qhov no yog dab tsi?

Lub hom phiaj tseem ceeb ntawm kev kho mob rau Crigler-Najjar Syndrome yog kom txo cov bilirubin hauv lub cev thiab tiv thaiv kernicterus. Cov kev kho mob no yuav suav nrog:

• Phototherapy: qhov no yog nwsKev kho mob tseem ceeb thiab feem ntau siv. Qhov no suav nrog kev siv cov teeb xiav tshwj xeeb los tshem tawm '(Bilirubin)' los ntawm daim tawv nqaij. Xav txog, cov teeb no hloov cov duab ntawm '(Bilirubin)' molecules, ua rau lawv yaj hauv dej, ua ke nrog cov kua tsib, thiab tawm ntawm lub cev. Thaum lub sijhawm kho mob no, ib daim npog tiv thaiv raug muab tso rau ntawm tus menyuam lub qhov muag thiab ntau npaum li ntau tau ntawm daim tawv nqaij raug rau lub teeb. Qhov no yuav tsum tau ua rau ob peb teev hauv ib hnub, tej zaum rau tas lawv lub neej.
• Kev hloov siab: Qhov no yog tib txoj kev kho mob mus tas li rau CN1. Qhov no suav nrog kev phais tshem tawm lub siab uas muaj mob thiab hloov nws nrog lub siab noj qab haus huv (lossis ib feem ntawm lub siab). Lub siab tshiab muaj peev xwm ua cov bilirubin kom zoo, uas pab kom cov bilirubin rov qab mus rau qhov qub. Qhov no feem ntau ua thaum ntxov hauv lub neej kom tiv thaiv kev puas tsuaj rau lub hlwb.
• Phenobarbital: Cov tshuaj no qee zaum siv rau CN2. Nws tuaj yeem ua rau cov enzymes hauv siab uas ua cov bilirubin ua haujlwm ntau dua me ntsis. Txawm li cas los xij, nws tsis ua haujlwm rau CN1.
• Kev siv plasmapheresis lossis kev hloov ntshav: Cov txheej txheem no yog siv los tshem tawm bilirubin sai sai ntawm cov ntshav yog tias qib bilirubin sai sai dhau los ua siab dhau, ua rau muaj kev pheej hmoo ntawm kev puas tsuaj rau lub hlwb.
• Tswj kub taub hau thiab kab mob: Kub taub hau thiab kab mob tuaj yeem ua rau cov bilirubin ntau ntxiv, yog li nws yog ib qho tseem ceeb kom tswj lawv sai sai.

Puas muaj tej yam tshwm sim ntawm kev kho mob?

Feem ntau kev kho mob siv duab yog ib qho kev kho mob uas muaj kev nyab xeeb. Txawm li cas los xij, qee zaum nws tuaj yeem ua rau daim tawv nqaij qhuav thiab raws plab. Tsis tas li ntawd, koj yuav tsum ceev faj txog kev haus dej ntawm koj tus menyuam.

Siv cov teeb xiav "LED" tshiab yuav tsis ua rau daim tawv nqaij puas tsuaj ntau dua li cov teeb fluorescent qub.

Thaum peb laus zuj zus thiab laus zuj zus, daim tawv nqaij yuav tuab zuj zus, uas ua rau lub teeb '(Phototherapy)' tsis muaj zog mus txog cov '(Bilirubin)' molecule. Qhov no ua rau kev kho mob tsis zoo, thiab tej zaum koj yuav tsum xav txog kev hloov siab.

Tej yam yuav tsum xav txog thaum saib xyuas ib tug menyuam

Kev saib xyuas ib tug me nyuam uas muaj Crigler-Najjar Syndrome tuaj yeem yog ib qho kev cov nyom.

• (Kev Kho Mob Los Ntawm Duab) Nws yog ib qho tseem ceeb heev uas yuav tsum ua qhov kev kho mob raws nraim li tus kws kho mob hais, rau lub sijhawm zoo. Feem ntau, qhov no tuaj yeem hloov kho kom ua tau hauv tsev.
• Thaum tus me nyuam nyob hauv qab lub teeb, nplij nws, tham nrog nws, thiab kov nws.
• Kev ywg dej kom zoo yog qhov tseem ceeb.
• Nco ntsoov ua tib zoo saib xyuas koj tus menyuam daim tawv nqaij, tus cwj pwm, thiab kev noj zaub mov. Yog tias koj pom muaj kev hloov pauv, qhia rau koj tus kws kho mob tam sim ntawd.
• Yog koj muaj cov tsos mob xws li kub taub hau, ntuav, lossis raws plab, mus ntsib koj tus kws kho mob tam sim ntawd.Vim tias tej yam zoo li no tuaj yeem ua rau cov bilirubin nce siab sai sai.

Qhov no puas tiv thaiv tau?

Tsis yog. Crigler-Najjar Syndrome tsis tuaj yeem tiv thaiv tau vim nws yog ib qho mob caj ces. Txawm li cas los xij, yog tias koj tab tom npaj yuav muaj menyuam, yog tias ib tug neeg hauv koj tsev neeg muaj tus mob caj ces no, lossis yog tias koj txhawj xeeb txog nws, tham nrog koj tus kws kho mob txog kev sab laj txog caj ces thiab kev kuaj caj ces. Qhov no yuav pab koj nrhiav seb koj puas muaj feem yuav muaj menyuam nrog tus mob no.

Lub neej yuav zoo li cas nrog rau qhov xwm txheej no? (Kev kwv yees)

Qhov no nyob ntawm seb hom kab mob (CN1 lossis CN2) thiab kho tau sai thiab zoo npaum li cas.

• Cov menyuam yaus uas muaj hom CN2 , yog tias kho kom zoo, feem ntau tuaj yeem cia siab tias yuav rov zoo thiab muaj lub neej ntev li qub.
• Cov menyuam yaus uas muaj CN1 muaj feem yuav raug mob hlwb vim yog kernicterus yog tias lawv tsis raug kuaj pom hauv ob peb lub hlis thawj zaug ntawm lawv lub neej thiab kho nrog kev siv tshuaj phototherapy ntau thiab tom qab ntawd hloov siab. Hauv cov xwm txheej zoo li no, lub neej ntev yuav tsawg. Txawm li cas los xij, yog tias kho sai thiab tsim nyog, tshwj xeeb tshaj yog hloov siab, lawv tuaj yeem ua neej nyob li qub.

Muaj ntau tus neeg xav tau kev kho mob tas mus li thiab kev tswj kab mob.

Puas muaj kev kho mob tas mus li rau qhov no?

Yog lawm, zoo li peb tau hais ua ntej lawm, kev hloov siab tuaj yeem kho tau Crigler-Najjar Syndrome, tshwj xeeb tshaj yog CN1 variant. Vim tias lub siab tshiab, noj qab haus huv muaj peev xwm ua tiav Bilirubin kom zoo, qib Bilirubin rov qab mus rau qhov qub, tshem tawm qhov xav tau kev kho mob phototherapy.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Kab mob Crigler-Najjar Syndrome muaj peev xwm ua rau muaj cov tsos mob uas tsis kho tau thiab ua rau tuag taus. Yog li ntawd, yog tias koj tus menyuam qhov mob daj ntseg tsis zoo dua hauv ob peb hnub lossis zoo li hnyav zuj zus, mus ntsib kws kho mob tam sim ntawd.

Ntxiv rau, yog tias koj pom ib qho ntawm cov tsos mob no, mus ntsib kws kho mob tam sim ntawd:

• Kev loj hlob qeeb ntawm tus menyuam
• Kub taub hau heev
• Mob daj ntseg uas tsis zoo dua lossis hnyav zuj zus tom qab phototherapy
• Nyuaj noj mov, poob phaus
• Yog tias tus me nyuam pheej tsaug zog thiab tsis xav ua dab tsi
• Kev txav ntawm lub cev lossis kev co tsis zoo li qub

Cov lus nug uas yuav tsum nug tus kws kho mob

Thaum koj mus ntsib kws kho mob, npaj txhij nug cov lus nug zoo li no:

• Kuv tus menyuam puas muaj tus mob Crigler-Najjar syndrome hom 1 lossis 2?
• Kuv tus menyuam yuav tsum tau siv phototherapy ntev npaum li cas? Muaj pes tsawg teev hauv ib hnub?
• Puas muaj tej yam tshwm sim tsis zoo rau cov kev kho mob no? Yuav ua li cas txog lawv?
• Puas yog kuv tus menyuam yuav tsum tau hloov siab? Yog tias yog, thaum twg yog lub sijhawm zoo tshaj plaws los ua?
• Qhov kev kuaj mob ntawm kuv tus menyuam no loj npaum li cas thiab kuv yuav cia siab li cas rau lub sijhawm ntev?
• Kuv puas ua tau phototherapy hauv tsev? Xav tau cov khoom siv dab tsi?
• Muaj tej yam dab tsi uas kuv yuav tsum tau ua tib zoo saib xyuas thaum kuv saib xyuas kuv tus menyuam?
• Kuv yuav tsum tuaj kuaj mob tom ntej thaum twg?

Kev kuaj pom tias muaj Crigler-Najjar Syndrome tuaj yeem yog ib qho kev cov nyom rau ob tus menyuam thiab lawv cov neeg saib xyuas. Nws yog ib qho kev nkag siab tias yuav ntshai thiab ntxhov siab thaum koj tus menyuam yug los nrog daim tawv nqaij thiab qhov muag daj. Yog tias koj xav tias ntxhov siab, ntxhov siab, lossis ntxhov siab thaum saib xyuas koj tus menyuam nrog qhov kev kuaj pom no, nws yog ib qho tseem ceeb uas yuav tsum tham nrog tus kws pab tswv yim kev noj qab haus huv ntawm lub hlwb thiab saib xyuas koj tus kheej. Thaum koj noj qab nyob zoo thiab muaj zog, koj tuaj yeem pab koj tus menyuam taug kev no zoo tshaj plaws.

Yog li ntawd, peb yuav tsum nco ntsoov dab tsi? (Cov Lus Coj Mus Tsev)

Crigler-Najjar Syndrome yog ib qho mob uas tsis tshua muaj tab sis muaj peev xwm ua rau mob hnyav. Qhov tseem ceeb yog kuaj mob thaum ntxov thiab pib kho kom zoo.

• Yog koj tus menyuam lub qhov ncauj daj (xim daj) zoo li ntau dua li qub, lossis yog tias nws zoo li tshwm sim ntev heev, mus ntsib kws kho mob. Tsis txhob nkim sijhawm.
• Muaj ob hom mob no; CN1 yog qhov hnyav tshaj plaws thiab xav tau kev kho mob sai thiab mob hnyav.
• Kev kho mob siv duab yog kev kho mob uas siv ntau tshaj plaws. Rau CN1, kev hloov siab yog qhov kev daws teeb meem zoo tshaj plaws thiab ruaj khov tshaj plaws.
• Qhov no yog ib qho mob uas los ntawm noob caj ces thiab peb tsis tuaj yeem tiv thaiv tau. Txawm li cas los xij, nws yog ib qho tseem ceeb uas yuav tsum nrhiav kev pab tswv yim txog noob caj ces thaum npaj tsev neeg.

Qhov tseem ceeb yog kom paub tias koj tsis nyob ib leeg. Nrog kev txhawb nqa ntawm cov kws kho mob, tsev neeg, thiab lwm cov niam txiv uas muaj cov menyuam zoo li no, koj tuaj yeem ntsib qhov teeb meem no. Nrog kev kho mob zoo thiab kev saib xyuas zoo, koj tuaj yeem pab koj tus menyuam ua neej zoo li qub li sai tau.

` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Siab, Kev puas tsuaj ntawm cov noob caj noob ces, Kernicterus, Phototherapy, Cov menyuam mos