Yu smɔl pikin de tɔn yɔlɔ? Yu tink se na di sik we dɛn kɔl Crigler-Najjar Syndrome? Lɛ wi tɔk bɔt am!

Wi no se i nɔmal fɔ mek di pikin dɛn we dɛn jɔs bɔn gɛt smɔl yɔlɔ na dɛn skin, ɔ jaundice. Bɔku tɛm, dis kin stɔp insay sɔm dez. Bɔt sɔntɛnde dis yɔlɔ kin pas aw i kin bi ɛn i kin las fɔ lɔng tɛm. Na da tɛm de wi nid fɔ wɔri smɔl. Bikɔs, dis kin bi bikɔs ɔf Crigler-Najjar Syndrome, we na wan sik we nɔ kin apin so ɔltɛm bɔt we kin rili siriɔs. So, lɛ wi tɔk bɔt dis smɔl mɔ tide.

Wetin na di sik we dɛn kɔl Crigler-Najjar Syndrome?

Fɔ tɔk am simpul wan, Crigler-Najjar Syndrome na wan rare jenɛtik kɔndishɔn we kin apin we tumɔs pan pɔyzin tin we dɛn kɔl `(Bilirubin)` de na wi blɔd. Naw yu go mɔs de wɔnda wetin dis `(Bilirubin)` bi, nɔto so?

Tink bɔt am, di rɛd blɔd sɛl dɛn na wi bɔdi gɛt wan patikyula layf. We da layf de dɔn, dɛn kin day. dis yכlכ pigmεnt we de kכmכt we di rεd bכdi sεl dεm de brok dεn kכl am `(Bilirubin).` nכmal wan, dis kin apin na di bכdi fכ pכsin we gεt hεlth: Wi liva de tek dis `(Bilirubin)`, pul in tכxik nεchכr, εn tכn am to sכmtin we nכ tכxik. Dɔn dɛn kin pul am na di bɔdi wit fes.

Bɔt di liva fɔ pɔsin we gɛt Crigler-Najjar syndrome nɔ kin ebul fɔ brok dis bilirubin fayn fayn wan. Dɔn, di pɔyzin bilirubin kin bigin fɔ gɛda na di blɔd. Dis na siriɔs sik we kin mek pɔsin in layf de pan denja if dɛn nɔ trit am fayn.

Yu tink se kayn sik de we dɛn kɔl Crigler-Najjar syndrome?

Yɛs, tu men kayn Crigler-Najjar Syndrome de:

• Tayp 1 (CN1): Dis na di kayn we we kin rili bad ɛn we kin mek pɔsin in layf de pan denja. Bɔrku pikin dɛm wae gɛt dis sik kin gɛt prɔblɛm fɔ liv bikɔs ɔf di prɔblɛm dɛm wae de kam wit dis sik, mɔr lɛk aw dɛn bren dɔn pwɛl. I impɔtant fɔ mek dɛn trit dɛn kwik kwik wan ɛn tranga wan.
• Tayp 2 (CN2): Dis na sik we nɔ siriɔs smɔl pas tayp 1. Pikin dɛn we gɛt dis kayn sik nɔ kin gɛt siriɔs sik bikɔs di liva kin ebul fɔ prosɛs bilirubin te to sɔm mak. So, dɛn kin liv nɔmal layf span.

Udat dis sik kin afɛkt? Aw i kɔmɔn?

Crigler-Najjar Syndrome na wan sik wae de kam pan pɔrsin in jɛnɛtiks wae kin afɛkt ɛnibɔdi. i de kכz fכ wan mכtεshכn insay wan jin we dεn kכl `(UGT1A1)`. imajin, if di mama εn papa dεn tu de kכri dis difεktiv jin, εn di pikin gεt difεktiv kכpi fכ di jin frכm dεn tu, dis kכndyushכn (dat na, `(Autosomal Recessive)`) de apin. if dis jin we nכ de wok fayn kכmכt frכm di mama nכmכ כ di papa nכmכ, i kin bi wan kכndyushכn we nכ siriכs, lεk `(Gilbert's Syndrome)`, εn כda kכndyushכn we rilet to `(Bilirubin)`.

Di sik we dɛn kɔl Crigler-Najjar Syndrome kin afɛkt lɛk wan pan ɛvri milyɔn pikin dɛn we dɛn jɔs bɔn na di wɔl. Dat min se na sik we rili, rili rare.

Aw dis kin afɛkt di pikin in bɔdi?

If yu smɔl pikin gɛt dis sik, dɛn skin ɛn di wayt na dɛn yay go tɔn yɔlɔ. Dɛn kɔl dis janda. Dis kin apin bikɔs di liva nɔ kin ebul fɔ prosɛs di bilirubin fayn fayn wan, we kin mek di bilirubin bɔku na di blɔd. Pan ɔl we janda kin bɔku pan pikin dɛn we dɛn jɔs bɔn, pikin dɛn we gɛt Crigler-Najjar syndrome kin gɛt janda fɔ lɔng tɛm, sɔntɛm dɛn kin gɛt am ɔlsay na dɛn layf.

Dis kin mek pɔsin in layf de pan denja. Bikɔs if yu pikin in bɔdi gɛt tumɔs bilirubin, i kin travul go na di bren ɛn mek in bren pwɛl we nɔ go ɛva chenj. Dɛn kɔl dis Kernicterus. So, dɔktɔ dɛn go mek di tritmɛnt plan fɔ yu pikin in sik fɔ mek dɛn nɔ gɛt dɛn bad bad tin ya.

Wetin na di sayn dɛm wae de sho se yu gɛt Crigler-Najjar syndrome?

Di kayn we aw di sik kin tranga kin difrɛn difrɛn wan fɔ di kayn sik (Tayp 1 ɔ Tayp 2). Tayp 1 na di wan we kin rili bad.

If pikin we dɛn jɔs bɔn gɛt dis sik, dɛn skin ɛn di wayt pat na dɛn yay go tɔn yɔlɔ, we dɛn kɔl janda. Jandis kin apin to pikin dɛn we dɛn jɔs bɔn bikɔs dɛn liva nɔ kin dɔn ful-ɔp. Dis kin bεtεh insay di fכs wik כ tu wik dεm na layf. Bɔt pan pikin dɛn we gɛt Crigler-Najjar syndrome, dis janda kin kɔntinyu afta dɛn bɔn dɛn.

Wetin na Kernicterus?

If bilirubin bɔku pasmak na pikin in bren, in nɛv, ɛn in tisu dɛn, pikin dɛn we gɛt Crigler-Najjar syndrome kin gɛt wan sik we dɛn kɔl kernicterus. Kernicterus na wan sik we de mek pɔsin in layf de pan denja ɛn we de pwɛl di bren. Dɛn sayn ya kin kam afta wan mɔnt ɔr so, ɔr we dɛn smɔl. Sɔntɛnde, dɛn sayn ya kin apin leta na layf, ɔ if dɛn stɔp di tritmɛnt fɔ Crigler-Najjar syndrome, ɔ if di bilirubin lɛvɛl go ɔp wantɛm wantɛm bikɔs ɔf ɔda sik (fiva, infɛkshɔn), ɔ if di pikin in liva dɔn pwɛl.

Di smɔl smɔl sayn dɛm fɔ di kernicterus kin bi:

• Fɔ mek pɔsin nɔ ebul fɔ du sɔntin
• Di mɔsul dɛn we de spam
• Prɔblɛm dɛn we pɔsin kin gɛt we i de fil (fil, si, yɛri).
• I nɔ izi fɔ du fayn fayn wok dɛn (e.g., fɔ ol sɔntin, fɔ bɔt tin dɛn, ɛn ɔda tin dɛn)
• Muvmεnt dεm we dεn nכ de kכntro lεk fכ twis εn writh כltεm na di bכdi (Choreoathetosis) .
• Tut inɛmel nɔ de divɛlɔp fayn

Di bad bad sayn dɛm fɔ Kernicterus kin bi:

• I nɔ kin izi fɔ yɛri ɔ i kin dɛf
• Taya pasmak, slip ɔltɛm (Lethargic) .
• I nɔ izi fɔ it ɛn swɛla
• Fiva
• Nɔs ɔ vɔmit
• Sɔntɛnde, di mɔsul dɛn kin apin wantɛm wantɛmWiknɛs (Hypotonia) ɛn/ɔ sɔmtɛm di mɔsul dɛn kin stiff (Hypertonia) .
• Divεlכpmεnt כf kכgnitiv

Wetin na di rizin fɔ dis?

as wi bin se, di men rizin fכ dis na mכtεshכn na di jin we dεn kכl `(UGT1A1)`. dis `(UGT1A1)` jin de instrכkt di liva fכ mek wan εnzym we dεn kכl glukuronyl tכnfεrayz. dis εnzym rili imכtant biכs i de εp fכ kכnvכlt `(Bilirubin)` frכm "unconjugated" to "conjugated" εn pul am kכmכt na di bכdi.

Tink bɔt am lɛk dis: Bilirubin na yɔlɔ west prɔdak. Di liva tan lɛk faktri. insay dis faktri, wokman dεm de we dεn kכl εnzym dεm we di UGT1A1 jin de mek. dεn wok na fכ tek dis "bad" bilirubin εn tכn am to "gud" bilirubin, we kin sכlv insay wata εn i kin izi fכ kכl am na di bכdi. Dɔn i kin jɔyn wit di bayl, i kin pas na di insay, ɛn i kin kɔmɔt na di stɔl.

כltu, if yu gεt mכtεshכn na di `(UGT1A1)` jin, dεn "wokman" (εnzym) dεm nכ de prodyuz fayn, כ dεn nכ kin wok fayn. afta dat da "bad", tכxik `(Bilirubin)` de kכmכt na di bכdi εn di tisu dεm. We sɔntin lɛk dis pɔyzin gɛda na di blɔd, if dɛn nɔ trit am fayn, sayn dɛn kin apin we kin mek pɔsin in layf de pan denja.

Aw yu kin no bɔt dis?

If yu pikin gɛt janda, we min se di bilirubin lɛvɛl pas aw dɛn bin de tink pan pikin we dɛn jɔs bɔn, ɔ if di janda de wɔs kwik kwik wan insay di fɔs de ɔ wik afta dɛn bɔn am, yu fɔ go to dɔktɔ wantɛm wantɛm. Apat frɔm we di dɔktɔ go chɛk in bɔdi, i go du bɔku ɔda tɛst dɛn fɔ no di rayt tin we mek di skin ɛn di wayt pat na di yay yɔlɔ. Di tɛst dɛm wae dɛn kin yuse fɔ no bɔt Crigler-Najjar Syndrome na:

• jεnεtik tεst: Dis de εp fכ fכn di mכtεshכn na di jin (UGT1A1) we de mek di sik.
• di bכdi bilirubin lεvεl tεst: dis de mכsu di tכtal bilirubin we de insay di bכdi, εn bak di "bad" bilirubin (bilirubin we nכ kכnjugεt).
• Tεst dεm we di liva de wok: Chεk aw di liva de wok fayn fayn wan .
• yu kin nid bak fכ tek sכm sכm pat pan di liva (liva bayopsi) εn egzamin am fכ chεk di εnzym aktiviti.

Di dɔktɔ go aks yu bak if ɛnibɔdi na yu famili dɔn gɛt dɛn kayn jenɛtik kɔndishɔn ya, fɔ gɛt aidia bɔt di diagnosis bifo yu du di tɛst dɛm.

Wetin na di tritmɛnt dɛm fɔ dis?

di men gol fכ tritmεnt fכ Crigler-Najjar Syndrome na fכ rεdכks di lεvεl fכ bilirubin na di bכdi εn fכ mek di kεrnicterus nכ de. Dɛn tritmɛnt ya kin bi:

• Fɔtotɛrapi: Na disDi men tritmɛnt ɛn di tritmɛnt we dɛn kin yuz mɔ. dis involv fכ yuz spεshal blu layt fכ pul `(Bilirubin)` tru di skin. imajin, dεn layt dεm ya de chenj di shep fכ di `(Bilirubin)` mכlikul dεm, we de mek dεn sכlv insay wata, kכmbayn wit bayl, εn kכmכt na di bכdi. We dɛn de du dis tritmɛnt, dɛn kin put kɔva fɔ protɛkt di pikin in yay ɛn dɛn kin put bɔku pan di skin pan di layt. Dɛn fɔ du dis fɔ sɔm awa insay di de, sɔntɛm fɔ di res ɔf dɛn layf.
• Liva transplant: Dis na di onli pεrmanεnt mεkshכn fכ CN1. Dis min se dɛn kin du ɔpreshɔn fɔ pul di liva we gɛt di sik ɛn put di liva we gɛt wɛlbɔdi (ɔ pat pan di liva) insay in ples. di nyu liva ebul fכ proכses bilirubin fayn fayn wan, we de εp fכ mek di bilirubin lεvεl kam bak to nכmal. Dɛn kin du dis kwik kwik wan fɔ mek di bren nɔ pwɛl.
• Phenobarbital: Sɔntɛnde dɛn kin yuz dis mɛrɛsin fɔ CN2. i kin inkrεs sכmtεm di aktiviti fכ di liva εnzym dεm we de proכses bilirubin. Bɔt i nɔ de wok fɔ CN1.
• Plasmapheresis ɔ Exchange Transfusion: Dɛn kin yuz dɛn we ya fɔ pul bilirubin kwik kwik wan na di blɔd if di bilirubin lɛvɛl tumɔs wantɛm wantɛm, we kin mek di bren pwɛl.
• Kɔntrol fiva ɛn infɛkshɔn: Fiva ɛn infɛkshɔn kin mek di bilirubin lɛvɛl go ɔp, so i impɔtant fɔ kɔntrol dɛn kwik kwik wan.

Ɛni bad tin de we di tritmɛnt kin du?

Fɔtotɛrapi na jɔs wan tritmɛnt we nɔ bad. Bɔt sɔntɛnde, i kin mek yu skin dray ɛn mek yu gɛt dayarɛa. Dɔn bak, yu nid fɔ tek tɛm wit di wata we yu pikin gɛt.

If yu yuz nyu ``LED`` blu layt, i nɔ kin mek yu skin pwɛl pas ol fluorescent layt dɛn.

as wi de ol εn ol, di skin de tik, we kin ridyus di abiliti fכ di `(Fototherapy)` layt fכ rich di `(Bilirubin)` mכlikul dεm. Dis kin mek di tritmɛnt nɔ wok fayn, ɛn yu kin nid fɔ tink bɔt fɔ transplant yu liva.

Tin dɛn we yu fɔ tink bɔt we yu de kia fɔ pikin

Fɔ kia fɔ pikin we gɛt Crigler-Najjar Syndrome kin tranga.

• (Fototherapy)` I rili impɔtant fɔ du di tritmɛnt jɔs lɛk aw di dɔktɔ se, di rayt tɛm. Bɔku tɛm, dɛn kin ajɔst dis fɔ mek dɛn du am na os.
• We di pikin de ɔnda di layt, kɔrej am, tɔk to am, ɛn tɔch am.
• I impɔtant fɔ mek yu gɛt wata fayn fayn wan.
• Ɔltɛm pe atɛnshɔn to yu pikin in skin kɔlɔ, di we aw i de biev, ɛn di we aw i de it. If yu notis ɛni chenj, tɛl yu dɔktɔ wantɛm wantɛm.
• If yu gɛt sɔm sayn dɛn lɛk fiva, vɔmit, ɔ dayarɛa, go to yu dɔktɔ wantɛm wantɛm.Bikɔs tin dɛn lɛk dis kin mek di bilirubin lɛvɛl go ɔp wantɛm wantɛm.

Yu tink se dɛn go ebul fɔ stɔp dis?

Nɔ, dɛn nɔ kin ebul fɔ stɔp di sik we dɛn kɔl Crigler-Najjar Syndrome bikɔs na wan sik we pɔsin kin gɛt we i kam pan pɔsin in jɛnɛtiks. Bɔt if yu de plan fɔ bɔn pikin, if sɔmbɔdi na yu famili gɛt dis jenɛtik sik, ɔ if yu de wɔri bɔt am, tɔk to yu dɔktɔ bɔt aw fɔ advays yu jɛnɛtiks ɛn tɛst fɔ yu jɛnɛtiks. Dis go ɛp yu fɔ no yu risk fɔ gɛt pikin wit dis sik.

Aw layf go tan lɛk wit dis kɔndishɔn? (Prɔgnosis) .

Dis kin dipen pan di kayn sik (CN1 ɔ CN2) ɛn aw dɛn kin trit am kwik ɛn fayn fayn wan.

• Pikin dεm we gεt tayp CN2 , if dεn trit dεm fayn, kin εkspεkt fכ rεkכv gud gud wan εn nכmal layfspan.
• Pikin dεm we gεt CN1 kin gεt hכy risk fכ divεlכp dεn bren damej bikoz fכ di kεrnikta if dεn nכ no se dεn gεt am insay di fכs fכ mכnt dεm we dεn de liv εn trit dεm wit intensiv fכto tεrapi εn afta dat dεn liva transplant. Insay dɛn kayn tin ya, di layf we pɔsin kin liv kin smɔl. Bɔt if dɛn trit dɛn kwik ɛn di rayt we, mɔ we dɛn transplant dɛn liva, dɛn kin liv nɔmal layf.

Bɔrku pipul dɛn nid tritmɛnt fɔ ɔl dɛn layf ɛn fɔ mɛn dɛn sik.

Yu tink se mɛrɛsin de fɔ dis sote go?

Yes, as wi bin se bifo, liva transplant kin mɛn Crigler-Najjar Syndrome, mɔ di CN1 variant. Bikɔs di nyu liva we gɛt wɛlbɔdi kin ebul fɔ prosɛs Bilirubin fayn fayn wan, di Bilirubin lɛvɛl kin kam bak to nɔmal, we kin mek i nɔ nid fɔ tek fototɛrapi.

Ustɛm a fɔ go to dɔktɔ?

Crigler-Najjar Syndrome kin mek yu gɛt sɔm kayn sik wae nɔr kin chenj, wae kin mek yu layf de pan denja. So, if yu pikin in janda nɔ bɛtɛ insay sɔm dez ɔ i tan lɛk se i de wɔs, go to dɔktɔ wantɛm wantɛm.

Apat frɔm dat, if yu notis ɛni wan pan dɛn sayn ya, go to dɔktɔ wantɛm wantɛm:

• divεlכpmεnt delay na di pikin
• Ay fiva
• Jandis we nɔ de bɛtɛ ɔ we de wɔs afta dɛn dɔn tek foto
• I nɔ izi fɔ it, fɔ lɛf fɔ it bɔku bɔku it dɛn
• If di pikin de slip ɔltɛm ɛn i nɔ de intres
• Di bɔdi we nɔ kɔmɔn ɔ we i de jɔk

Kwɛstyɔn dɛn we yu fɔ aks di dɔktɔ

We yu go si dɔktɔ, rɛdi fɔ aks kwɛstyɔn dɛn lɛk dɛn wan ya:

• Mi pikin gɛt Crigler-Najjar syndrome tayp 1 ɔ 2?
• Aw lɔng mi pikin nid fɔ gɛt fototɛrapi? Ɔmɔs awa insay di de?
• Ɛni bad tin de we dɛn tritmɛnt ya kin du? Wetin dɛn kin du bɔt dɛn?
• Yu tink se mi pikin nid fɔ gɛt liva transplant? If na so i bi, ustɛm na di bɛst tɛm fɔ du am?
• Aw siriɔs di diagnosis fɔ mi pikin ɛn wetin a kin ɛkspɛkt fɔ lɔng tɛm?
• A kin du fototɛrapi na os? Us ikwipmɛnt dɛn nid?
• Wetin na di tin dɛn we a nid fɔ pe atɛnshɔn mɔ to we a de kia fɔ mi pikin?
• Ustɛm a fɔ kam fɔ mi nɛks chɛk-ap?

If yu no se yu gɛt Crigler-Najjar Syndrome, dat kin bi prɔblɛm fɔ di pikin ɛn di wan dɛn we de kia fɔ dɛn. I fayn fɔ ɔndastand se yu de fred ɛn wɔri we dɛn bɔn yu pikin wit yɔlɔ skin ɛn yay. If yu de fil se yu de fil bad, strɛs, ɔr de wɔri we yu de kia fɔ yu pikin wit dis diagnosis, i impɔtant fɔ tɔk to pɔsin we de advays yu bɔt mɛntɛl hεlth ɛn tek kia ɔf yusɛf. We yu gɛt wɛlbɔdi ɛn trɛnk, yu kin ɛp yu pikin di bɛst we fɔ du dis waka.

So, wetin na di tin dɛn we wi nid fɔ mɛmba? (Mɛsej we dɛn kin tek go na os)

Crigler-Najjar Syndrome na wan sik wae nɔr kin bɔrku bɔt kin bi siriɔs jenɛtik kɔndishɔn. Di men tin na fɔ no di sik kwik kwik wan ɛn bigin fɔ tek di rayt tritmɛnt.

• If i tan lɛk se yu pikin in janda (yɔlɔ kɔlɔ) dɔn pas aw i fɔ bi, ɔ if i tan lɛk se i dɔn de fɔ lɔng tɛm, yu go mɔs go to dɔktɔ. Nɔ west tɛm.
• Tu kayn dis sik de; CN1 na di wan we rili bad ɛn i nid fɔ gɛt tritmɛnt kwik ɛn tranga wan.
• Fɔtotɛrapi na di tritmɛnt we dɛn kin yuz mɔ. fכ CN1, liva transplant na di bεst εn mכst pεrmanεnt sכlushכn.
• Dis na jɛnɛtik kɔndishɔn ɛn dɛn nɔ go ebul fɔ avɔyd am. Bɔt i impɔtant fɔ mek yu go fɛn advays bɔt yu jɛnɛtiks we yu de plan fɔ mek yu famili.

Di impɔtant tin na fɔ no se nɔto yu wangren de. If dɔktɔ, famili, ɛn ɔda mama ɛn papa dɛn we gɛt pikin dɛn lɛk dis sɔpɔt yu, yu go ebul fɔ bia wit dis prɔblɛm. If yu trit yu pikin di rayt we ɛn kia fɔ yu wit lɔv, yu go ebul fɔ ɛp yu fɔ liv fayn layf, as nɔmal layf as yu ebul.

` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Liva, Jɛnɛtik dizayd, Kernicterus, Fɔtotɛrapi, Nyu bɔn pikin dɛn