Crigler-Najjar Syndrome

Crigler-Najjar syndrome is a rare genetic disorder that affects the body's ability to process a substance called bilirubin, which is produced when red blood cells are broken down. Bilirubin is normally processed by the liver and then excreted from the body in bile, a digestive fluid. However, individuals with Crigler-Najjar syndrome have a defect in the enzyme responsible for converting bilirubin into a form that can be easily eliminated from the body. This results in a buildup of bilirubin in the blood, leading to a condition called hyperbilirubinemia.
There are two types of Crigler-Najjar syndrome:
1. Crigler-Najjar Syndrome Type 1: This is the more severe form of the disorder. Individuals with type 1 Crigler-Najjar syndrome have little to no activity of the enzyme responsible for bilirubin processing, called UDP-glucuronosyltransferase 1A1 (UGT1A1). As a result, they have extremely high levels of unconjugated bilirubin in their blood, which can lead to jaundice (yellowing of the skin and eyes), neurological problems, and even brain damage if left untreated. Treatment for type 1 Crigler-Najjar syndrome often involves phototherapy, where the skin is exposed to certain wavelengths of light to help break down the excess bilirubin. In severe cases, liver transplantation may be necessary.
2. Crigler-Najjar Syndrome Type 2: This is a milder form of the disorder. Individuals with type 2 Crigler-Najjar syndrome have some residual UGT1A1 enzyme activity, which means they can process bilirubin to some extent. Their bilirubin levels are elevated but not as dangerously high as in type 1. Phototherapy is also commonly used to manage type 2 Crigler-Najjar syndrome, and in some cases, medications like phenobarbital may be prescribed to increase bilirubin processing.
Crigler-Najjar syndrome is inherited in an autosomal recessive manner, which means that a person must inherit two defective copies of the gene responsible for the condition (one from each parent) to develop the disorder. The gene associated with Crigler-Najjar syndrome is the UGT1A1 gene located on chromosome 2.
Because Crigler-Najjar syndrome is a genetic disorder, there is ongoing research into potential gene therapies and other treatments to address the underlying cause of the condition. However, as of my last knowledge update in September 2021, these treatments were still in experimental stages and not yet widely available. It's recommended to consult with medical professionals and genetic counselors for the most up-to-date information on Crigler-Najjar syndrome and its management.

[@duaa7240]

Dark liver is caused by accumolation of epinephrine metabolites, not the conjugated bilirubin. Thank you :)

[@omarbinsebayel1460]

Very clear and informative thank you so much

[@paviram1038]

Loved it..short and crisp...best of all

[@fardadja]

Great video, thank you! Just a quick correction - it's spelled Crigler-Najjar, not Crigler-Nijjar. Thank you! :-)

[@andleebnasrullahmir7445]

A really good video 👍🙏

[@Sirahmed9476]

i have Gilbert syndrome, my eyes always yellow and i get tired from studying

[@mariamfarouk9551]

Very nice video
Thank you

[@livelife1529]

Summary 2:41

[@dilkushathanzeel4662]

Great vedio.thank you

[@ashutoshi.c.u5795]

perfect , great information 😍😍😍🤗🤗🎀🎀

[@Doctor_AlSayyad]

Thank you ❤

[@saleemchoudry5922]

Thank you!

[@sadafalavifard9908]

I think not all are autosomal recessive right ?

[@medicalacount3406]

Great
Thanks sir

[@pq2552]

Thank youu!!

[@pedazodetorpedo]

What would I have if presenting with isolated direct and indirect hyperbilirubinemia with 30% direct fraction? Conjugated bilirubin is 8 umol/L and unconjugated 19 umol/L

[@fariyaashrafkazi6185]

Awesome!

[@timothyryantiberia8424]

When you say stress, do you mean mental stress or some type of cellular stress?

[@USMLEpass]

Physical stress (caused by acute illness)

[@Duncarin]

mental stress, correct.

[@tinywitch8051]

I was diagnosed with Dubin Johnson syndrome 🤟🏼

[@Diegocbaima]

Are you OK?

[@tinywitch8051]

@@Diegocbaima Yes, it's nothing dangerous. I am just easily exhausted when I'm stressed, but everything is normal.

[@denizkaptan5482]

same.. how is it for you?

[@tinywitch8051]

@@denizkaptan5482 I'm okay till I get stressed, tired, or if I eat unhealthy, drink alcohol or if I'm sick haha.
What about you ?
It's hard to tell if these symtoms happen to other people or if it's just because of the way I am.

[@denizkaptan5482]

@@tinywitch8051 same with me! and i have a very mild jaundice in the whites of my eyes too, sometimes people notice it in daylight.
im good until im stressed or sleep deprived too. i feel like it exhausts me a little more than other people but i guess there’s no way to be 100% sure on that.

[@hmm-m]

So do I have Gilbert in case of both direct and indirect billirubin increased with liver enzymes ok and no billirubin in urine?

[@pedazodetorpedo]

What proportion of the bilirubin is unconjugated? In Gilbert it is overwhelmingly indirect, while increased direct (50% of total) and indirect might point to Rotor syndrome in the absence of any other blood markers.

[@hmm-m]

@@pedazodetorpedo
two check-ups:
total: 2,11; indirect: 1,49; direct: 0,62
total: 2,2; indirect: 1,9; direct: 0,3

[@asmaabbas1110]

What is meant by rark liver!

[@1april285]

Dark liver

[@ReallyTom]

I have crigler-najjar 🙁

[@asmitatamang8911]

I also have what's should I do

[@sanupasi4701]

@@asmitatamang8911 hii , I also have crigler, whats your bilrubin level

[@dr-weeb]

@@sanupasi4701 i also have, and mine is 150

[@senpai1628]

​@@sanupasi4701I may have it, what's your bilirubin level?

[@Sa__ya123]

@@senpai1628what is your bilurubin lvl and what are your symptoms?

[@Kanchanbasnwal5758]

I have a symptoms of this syndrome...

[@sahararshad6426]

👍👍👍

[@jimpat8125]

bro you have got to work on your spelling, otherwise it was a helpful video to recap really quickly

[@rahulmostwanted]

Wtf UGT
Useless article.