I naupang tê chu a sen tawh em? Crigler-Najjar Syndrome a ni thei ang em? I sawi dawn nia!

Nausen piang tharte hian an vun a sen deuh deuh, a nih loh leh jaundice an neih hi thil pangngai a ni tih kan hria. A tam zawkah chuan hei hi ni engemaw zat chhungin a reh mai ang. Mahse, a chang chuan he yellowing hi a tlangpui aia tam a ni thei a, rei zawk pawh a daih thei bawk. Chu chu tlem kan ngaihtuah a ngai a ni. A chhan chu, hei hi Crigler-Najjar Syndrome vang a ni thei a, hei hi genetic condition hmuh tur awm lo mahse na tak a ni thei. Chuvangin, vawiinah hian he thu hi chipchiar deuhin han sawi ila.

Crigler-Najjar Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Crigler-Najjar Syndrome hi kan thisenah `(Bilirubin)` an tih toxic substance a tam lutuk avanga lo awm thin, genetic condition hmuh tur awm lo tak a ni. Tunah chuan he `(Bilirubin)` hi eng nge a nih i ngaihtuah mai thei, a dik em?

Ngaihtuah teh, kan taksaa thisen sen (red blood cells) te hian dam chhung hun engemaw chen an nei a. Chu dam chhung chu a tawp chuan an thi ta a ni. He thisen sen (red blood cells) a chhiat huna lo pigment sen (yellow pigment) hi `(Bilirubin) an ti a.` A tlangpuiin mi hrisel taksaah hetiang hi a thleng thin: Kan thin hian he `(Bilirubin)` hi a la a, a toxic nature chu a paih chhuak a, thil tha lo takah a chantir ta a ni. Tichuan taksa atangin bawlhhlawh hmangin a chhuak leh thin.

Mahse, Crigler-Najjar syndrome vei thin chuan he `(Bilirubin) hi uluk takin a tichhia thei lo.` Tichuan chu toxic `(Bilirubin)` chu thisenah a lo awm tan ta a ni. Hei hi natna khirh tak a ni a, uluk taka enkawl a nih loh chuan nunna atana hlauhawm thei a ni.

Crigler-Najjar syndrome chi hrang hrang a awm em?

Ni e, Crigler-Najjar Syndrome hi chi hnih a awm a, chungte chu:

• Type 1 (CN1): Hei hi a na ber leh nunna atana hlauhawm ber a ni. Hetiang natna vei naupang tam tak hian he natna avanga harsatna awm thei, a bik takin thluak chhiatna avang hian dam khawchhuah an harsat hle. Enkawlna rang leh uluk taka neih a pawimawh hle.
• Type 2 (CN2): Hei hi type 1 aiin natna khirh lo deuh a ni a, hetiang chi nei naupangte hian natna lanchhuahna na tak an nei tlem zawk a, a chhan chu liver hian bilirubin hi eng emaw chen a process thei a ni. Chuvangin dam chhung pangngaiin an khawsa thei a ni.

He dinhmun hian tute nge a nghawng? Engtiang chiahin nge a awm?

Crigler-Najjar Syndrome hi genetic condition a ni a, tu pawh a nghawng thei a ni. `(UGT1A1)` tih gene-a mutation awm vang a ni. Ngaihtuah teh, nu leh pa pahnih hi he gene chhia hi kengtu an nih a, naupang chuan an pahnih hnen atangin gene copy dik lo a dawng a nih chuan he dinhmun (chu chu `(Autosomal Recessive)`) hi a lo awm ta a ni. He gene chhia hi nu chauh atanga lo chhuak emaw, pa chauh atanga lo chhuak emaw a nih chuan natna khirh lo zawk, `(Gilbert’s Syndrome)` ang chi te, leh `(Bilirubin)` nena inzawm natna dang a ni thei bawk.

Crigler-Najjar Syndrome hian khawvel puma nau piang thar maktaduai khat zinga pakhat vel a vei a ni. Chu chu natna hmuh tur awm lo tak a ni tihna a ni.

Hei hian engtin nge naupang taksa a nghawng?

I fate hian hetiang dinhmun hi a neih chuan an vun leh an mit var chu a sen vek ang. Hei hi jaundice an ti a. Hei hi a chhan chu liver hian bilirubin hi a process tha thei lo va, thisenah bilirubin a pung nasa hle a ni. Nausen piang tharte zingah jaundice hi a awm fo nachungin, Crigler-Najjar syndrome nei naute hian hun rei zawk, an dam chhung zawngin jaundice an nei thei a ni.

Hei hian nunna a tichhe thei a ni. A chhan chu i naute taksain bilirubin a neih tam lutuk chuan thluak lamah a kal thei a, tihdanglam theih loh thluak a tichhe thei a ni. Hei hi Kernicterus an ti a. Chuvangin, doctor-te chuan heng a rah chhuah hlauhawm tak takte hi ven nan i naute natna lan chhuah dan azirin enkawlna ruahmanna an siam ang.

Crigler-Najjar syndrome natna lan chhuah dan chu engte nge ni?

Symptoms nasat dan hi a chi hrang hrang (Type 1 emaw Type 2 emaw) a zirin a inang lo. Type 1 hi a na ber a ni.

Nausen piang tharin he natna hi a neih chuan an vun leh an mit var te chu a sen vek ang a, chu chu jaundice an ti a ni. Nausen piang tharah hian jaundice hi a awm fo thin a, a chhan chu an thin (liver) a lo thang kim loh vang a ni. Hei hi dam chhung kar khat emaw kar hnih chhungin a tha zawk tlangpui. Mahse, Crigler-Najjar syndrome nei nauteah chuan he jaundice hi an pian hnuah pawh a la awm chhunzawm zel a ni.

Kernicterus chu eng nge ni?

Naupang thluak, nerve leh tissue-ah bilirubin a tam lutuk chuan Crigler-Najjar syndrome nei naupangte chuan kernicterus an tih natna an nei thin. Kernicterus hi nunna atana hlauhawm tak a ni a, thluak a tichhia a ni. Heng symptoms te hi thla khat emaw vel hnuah emaw, naupan lai atang emaw hian a lang tlangpui. A châng chuan, heng chhinchhiahnate hi a hnu lamah a lang thei a, chu chu Crigler-Najjar syndrome enkawlna tihtawp a nih chuan emaw, natna dang (khawsik, hri kai) avanga bilirubin level a san thut chuan emaw, naute thin (liver) a chhiat chuan emaw a ni thei.

Kernicterus natna lan chhuahna na lo tak takte chu:

• Clumsiness a ni
• Muscle spasms a awm thin
• Sensory (hriatna, hmuh, hriat) lama harsatna
• Hna tha tak tak thawh harsat (e.g., thil chelh, thil button vuah, etc.) .
• Taksa inher leh inher reng ang chi chetna thunun loh (Choreoathetosis) .
• Ha enamel a lo thang tha lo

Kernicterus natna lan chhuahna na tak takte chu:

• Hriatna harsatna emaw, bengchheng emaw
• Chauh lutuk, mutthilh reng (Lethargic) .
• Ei leh ei harsa
• Khawsik
• Nausea emaw, luak chhuak emaw
• A châng chuan taksa ruhte chu rang takin a awm ṭhinChak lohna (Hypotonia) leh/ emaw, a chang chuan taksa ruh natna (Hypertonia) .
• Cognitive development chungchang a ni

Hei hi eng nge a chhan?

Kan sawi tawh ang khan a chhan ber chu `(UGT1A1)` an tih gene-a mutation vang a ni. He `(UGT1A1)` gene hian liver chu glucuronyl transferase tih enzyme siam turin a hrilh a. He enzyme hi a pawimawh hle a, a chhan chu `(Bilirubin)` chu "unconjugated" atanga "conjugated" ah a chantir a, taksa atanga lakchhuah a pui a ni.

Hetiang hian han ngaihtuah teh: Bilirubin hi bawlhhlawh sen (yellow waste product) a ni. Liver hi factory ang mai a ni. He factory chhungah hian hnathawktu enzyme an tih, UGT1A1 gene atanga siam an awm a. An hna chu he bilirubin "tha lo" hi la in bilirubin "tha" ah an chantir a, chu chu tuiah a inthiar thei a, taksa atanga awlsam takin a paih chhuak thei a ni. Tichuan bile nen a inzawm khawm a, intestines ah a kal a, stool ah a chhuak ta a ni.

Mahse, `(UGT1A1)` gene-ah mutation i neih chuan, chu "worker" (enzyme) te chu an siam tha lo a, an thawk tha thei lo bawk. Tichuan chu "tha lo", toxic `(Bilirubin)` chu thisen leh tissue-ah a pung khawm ta a ni. Hetiang toxic thil hi thisenah a lo awm khawm chuan, uluk taka enkawl a nih loh chuan nunna atana hlauhawm symptoms a awm thei a ni.

Engtin nge hei hi i diagnose?

I naute hian jaundice a vei a nih chuan, chu chu nausen piang thara bilirubin level beisei aia sang tihna a ni a, a nih loh leh a pian hnu ni emaw, kar hmasa emaw chhunga jaundice a zual thuai chuan doctor pan nghal tur a ni. Taksa enfiahna bakah hian doctor hian test dang eng emaw zat a nei ang a, mit vun leh var a sen vek chhan dik tak a hriat theih nan. Crigler-Najjar Syndrome hriat theihna atana test hmante chu:

• Genetic testing: Hei hian natna lanchhuahna thlentu gene (UGT1A1)-a mutation awm chu a hmuchhuak thei a ni.
• Blood Bilirubin Level Test: Hei hian thisena bilirubin awm zawng zawng a teh a, chubakah bilirubin "tha lo" (unconjugated bilirubin) pawh a teh bawk.
• Liver function test: Liver hnathawh that dan enfiah thin ang che.
• Tin, liver atanga tlem te (liver biopsy) la a, enzyme activity enfiah nan i enfiah a ngai thei bawk.

Doctor chuan i chhungkuaah hian hetiang chi genetic condition hi an nei tawh em tih a zawt bawk ang che, test i tih hmain a diagnosis chungchang ngaihtuahna a neih theih nan.

Hei hi eng enkawlna nge ni?

Crigler-Najjar Syndrome enkawlna tum ber chu taksaa bilirubin level tihhniam leh kernicterus ven hi a ni. Heng enkawlnate hi a hnuaia mi ang hian a ni thei:

• Phototherapy: Hei hi a niEnkawlna ber leh hman tlanglawn ber. Hei hian vun kaltlangin `(Bilirubin)` tihbo nan blue light bik hman a huam a ni. Ngaihtuah teh, heng êngte hian `(Bilirubin)` molecule pianzia a thlak danglam a, tuiah a inthiar a, bile nen a inzawm a, taksa atangin a chhuak ta a ni. He enkawl chhung hian naute mit chungah venhimna khuhna dahin a vun a tam thei ang ber chu eng hnuaiah a awm thin. Hei hi ni khatah darkar engemaw zat tih a ngai a, an dam chhung zawng pawh a ni thei.
• Liver transplant: Hei hi CN1 damdawi awmchhun a ni. Hei hian liver natna nei chu surgery hmanga lakchhuah a, chu chu liver hrisel (or liver thenkhat) hmanga thlak a ni. Liver thar hian bilirubin chu a process tha thei a, hei hian bilirubin level chu a pangngaia a awm leh theih nan a pui a ni. Hei hi thluak tihchhiat loh nan naupan lai atanga tih a ni tlangpui.
• Phenobarbital: He damdawi hi CN2 tan pawh hman a ni \hin. Bilirubin siamtu liver enzyme te hnathawh chu tlem a tipung thei a ni. Mahse, CN1 tan chuan a thawk lo.
• Plasmapheresis emaw Exchange Transfusion: Heng hmanrua te hi thisen atanga bilirubin level a san lutuk thut a, thluak tihchhiatna a thlen chuan rang takin thisen atanga bilirubin lakchhuah nan hman a ni.
• Khawsik leh infection control: Khawsik leh infection hian bilirubin level a tisang thei a, chuvangin control vat a pawimawh.

Enkawlna hian side effect a nei em?

Phototherapy hi a tlangpuiin enkawlna him tak a ni. Mahse, a chang chuan vun vawt leh riltamna a thlen thei. Tin, i fate hydration chungchangah pawh fimkhur a ngai bawk.

``LED`` blue light thar hman hian fluorescent light hlui zawk aiin vun a tichhe tlem zawk.

Kan tar leh kan lo upat deuh deuh chuan vun a thim a, chu chuan `(Phototherapy)` êngin `(Bilirubin)` molecule a thlen theihna a ti tlem thei a ni. Hei hian enkawlna hlawhtlinna a ti tlem thei a, liver transplant ngaihtuah a ngai mai thei.

Naupang enkawl huna ngaihtuah tur thilte

Crigler-Najjar Syndrome vei naupang enkawl hi thil harsa tak a ni thei.

• (Phototherapy)` Doctor-in a sawi ang chiah, a hun takah tih a pawimawh hle. A tam zawkah chuan hei hi in lama tih theih turin siamrem theih a ni.
• Naute chu eng hnuaia a awm lai hian thlamuan la, biak la, khawih rawh.
• Hydration dik tak neih a pawimawh hle.
• I fa vun rawng, nungchang leh ei leh in te hi ngaihven fo ang che. Thil danglam i hmuh chuan doctor hnenah hrilh nghal rawh.
• Khawsik, luak chhuak, ril\am ang chi symptom i neih chuan doctor pan nghal rawh.A chhan chu hetiang thil hian bilirubin level a tisang nghal thei a ni.

Hei hi ven theih a ni em?

Ni lo, Crigler-Najjar Syndrome hi genetic condition a nih avangin ven theih a ni lo. Mahse, fa neih i tum a nih chuan, i chhungkuaa tu emaw hian he genetic condition hi a nei a nih chuan, emaw, i ngaihtuah a nih chuan, i doctor nen genetic counseling leh genetic testing chungchang sawipui rawh. Hei hian he natna vei fa neih theihna tur risk i hriat theih nan a pui ang che.

Hetiang dinhmun nen hian nun chu eng ang nge ni ang? (Prognosis) tih a ni.

Hei hi natna chi (CN1 emaw CN2 emaw) leh a enkawl rang leh hlawhtling taka enkawl a nih danah a innghat a ni.

• Type CN2 vei naupangte hi enkawl \ha an nih chuan dam lehna \ha leh dam rei tak an beisei tlangpui.
• CN1 vei naupangte hi an pian tirh thla engemaw zat chhunga an natna hmuhchhuah loh a, intensive phototherapy hmanga enkawl a nih hnuah liver transplant hmanga enkawl an nih chuan kernicterus vangin thluak chhiatna an nei thei a ni. Chutiang hunah chuan dam rei zawng chu a tlem thei hle. Amaherawhchu, rang tak leh \ha taka enkawl, a bik takin liver transplant an neih chuan nun pangngaiin an nung thei a ni.

Mi tam tak chuan dam chhung enkawlna leh natna enkawl an mamawh a ni.

Hei hi damdawi nghet tak a awm em?

Ni e, kan sawi tawh ang khan liver transplant hian Crigler-Najjar Syndrome a tidam thei a, a bik takin CN1 variant hi a tidam thei a ni. Liver thar, hrisel tak hian Bilirubin hi a process tha thei a, chuvang chuan Bilirubin level chu a normal leh ta a, phototherapy hman a ngai tawh lo.

Engtikah nge Doctor ka hmuh ang?

Crigler-Najjar Syndrome hian a natna lan chhuah dan leh tihdanglam theih loh, nunna atana hlauhawm tak a thlen thei a ni. Chuvangin, i naute jaundice hi ni rei lo te chhunga a lo tha lo emaw, a zual deuh anga lang emaw a nih chuan Doctor pan nghal tur a ni.

Tin, heng symptoms te hi i hmuh chuan doctor pan nghal rawh:

• Naupang hmasawnna tlai lutuk
• Khawsik sang tak a nei
• Phototherapy hnua jaundice tha lo leh zual lo
• Chaw ei harsa, taksa rihna tlahniam
• Naupang chu a muhil reng a, a ngaihven lo a nih chuan
• Taksa chetna danglam tak emaw, jerk emaw

Doctor hnena zawhna zawh tur

Doctor hmu tura i kal hunah hetiang zawhna zawt turin inpeih rawh:

• Ka fa hian Crigler-Najjar syndrome type 1 emaw 2 emaw a nei em?
• Ka fa hian eng chen nge phototherapy a mamawh? Ni khatah darkar engzat nge?
• Heng enkawlnate hian side effect a nei em? An chungchângah eng nge tih theih ang?
• Ka fa hian liver transplant a mamawh dawn em? Chutiang a nih chuan, engtikah nge tih hun ṭha ber?
• Ka fa diagnosis hi engtiang chiahin nge a serious a, hun rei tak chhung chu eng nge ka beisei theih ang?
• In lamah phototherapy ka ti thei ang em? Eng hmanrua nge mamawh?
• Ka fa enkawl huna ka ngaihven bik tur thilte chu engte nge ni?
• Engtikah nge ka check-up leh tur chu ka lo kal ang?

Crigler-Najjar Syndrome hmuhchhuah hi naupang leh an enkawltute tan pawh harsatna a ni thei. I fa chu vun leh mit sen hring neia a pian hian hlauhna leh lungkhamna i neih hi hriatthiam theih a ni. Hetiang diagnosis nei i fa enkawl lai hian i rilru a buai a, i lungkham a, i lungkham a nih chuan mental health counselor nen inbiakna neih a pawimawh a, i in enkawl a pawimawh hle. I hrisel leh chak chuan i fa chu he zinkawng zawh tur hian i pui thei ber ang.

Chuti a nih chuan, kan hriat reng tur thilte chu engte nge ni? (In lama hruai tur thuchah)

Crigler-Najjar Syndrome hi a awm lo hle a, mahse genetic condition na tak a ni thei. A pawimawh ber chu natna hi hriat hmasak a, enkawlna mumal tak tan hi a ni.

• I naute jaundice (yellow color) chu a tlangpui aia tam a nih hmel a nih chuan, emaw, rei tak a awm tawh ang tih a nih chuan doctor pan ngei ngei tur a ni. Hun khawhral suh.
• Hetiang dinhmun hi chi hnih a awm a; CN1 hi a na ber a, rang leh nasa taka enkawl a ngai a ni.
• Phototherapy hi a hman tlanglawn ber a ni. CN1 tan chuan liver transplant hi solution tha ber leh permanent ber a ni.
• Hei hi genetic condition a nih avangin ven theih a ni lo. Mahse, chhungkaw ruahmanna siam dawnin genetic counseling zawn a pawimawh hle.

A pawimawh ber chu nangmah chauh i ni lo tih hriat hi a ni. Doctor, chhungte leh hetiang fa nei nu leh pa dangte puihnain he harsatna hi i hmachhawn thei ang. Enkawlna dik leh hmangaihna nena enkawlna i neih chuan i fa chu a theih ang anga nun tha, pangngai tak nei turin i pui thei ang.

` Crigler-Najjar Syndrome, Bilirubin, Jaundice, Liver, Genetic disorder, Kernicterus, Phototherapy, Nau piang thar