Gilberts v. crigler niggar syndrom

[Ramoray]

I am confused, i just was looking at this flow chart on page 1814 of harrisons about diff types of liver diseases.
I understrand CN is more severe to the poitn of total lack of UGT1A1 so either no bilirubin is conjugated or less than normal is conjugated.
Now with gilberts its the same deal only the enzyme still works quite well (UGT1A1) that is and you conjugate alot but alot is left unconjugated.
Ok here ont he flow chart and in the text they say that if you have a purely unconjugated increased Bilir. and you hhave ruled out hemolysis, and the person si HEALTHY, than you can automatically diagnos Gilberts.
Now i do not see why CN1 particularly would not produce a complete increase unconj bili as well. the only thing i am assuming is that they do say in an otherwise HEEALTHY invidivual. I am guessing in a person wiwth CN1 or 2 they would have other more obvious signs-jaundice, kernicterus etc that that would be healthy, so that is why they say: INcreased uncon bili--if not hemolysys, and the patient is otherwise healthy--> it is Gilberts.

any help with this please?

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[nutmegs]

CN is evident from birth unless I am mistaken. Gilberts can be transient and not diagnosed until much later. and yes I'm fairly certain the key there is otherwise healthy.

 

[bigfrank]

To avoid problems, would you check the spelling of "crigler niggar"?

 

[paramed2premed]

I am confused, i just was looking at this flow chart on page 1814 of harrisons ...

Yeah I'm confused too -- HARRISON'S ?!?!?!

If that's your idea of a review book...

Somehow, I think you'll do just fine.

 

[Idiopathic]

Yes, the main point behind Gilbert's is that it is asymptomatic and usually requires no treatment, whereas Crigler-Najjar syndrome type I, which is the more dangerous, has no glucuronyl transferase. The patient with CN II or Gilberts is just deficient.

There will always be the need for daily light treatments and will always be organ damage with CN I, less so with CN II.

 

[Ramoray]

thanks guys , i guess they assume if your reading a medicine book you would konw which things have symptoms and which dont, i just thought the flow chart kinda stunk and was confusing. thanks though

 

[HiddenTruth]

Yea, basically in Gilbert's there is decreased activity of UDPGT. This is usually diagnosed in early adulthood like in the 20's. It's very common, and the dx is generally made by the finding of an isolated elevation of unonj bilirubin in an adult with no other liver function test abnormalities. And, clinically they are perfectly stable with no signs or symptoms. Their BR rarely exceeds like >50 or 60. I know that in intense states, such as surgery, and illnesses, and especailly like fasting for a couple days, you start getting a mild jaundicy appearance, but other than that they go by without even knowing, and it's usually picked up in a random lab test. So, that's why you would rule out hemolysis by looking at CBC and retic ct. While, in CNS, type 1, usually these kids die in infancy because of complete or near complete absence of the enzyme, while type II is simply a lesser extreme. And, in these you see ridiculous amounts of UCB (like >500-600 in type 1, and pretty high too in type II). So, these kids invariable have the signs in infancy. And type 1, they end up dying with kernicterus usually in infancy. So, I think look at age, the amt elevated, and to distinguish type 1 and II other than amount, you can see the effect of pehnobarb. In type 1, i think there would really be no effect since the enzyme is pretty much gone, or at least, I'd suspect a minor decrs, while in type II, that is the mainstray of treatment, since they do have some residual activity. Also, in gilberts, there is a defect in transport as well, along with the conjugation defect. Hoepfully, this clarified some stuff.

 

[Idiopathic]

The classic Gilbert's case is a college student/young adult who stays up all night studying/working, and maybe skips a meal, then develops an uncomplicated self-limiting jaundice without other problems. The enzyme is glucuronyl transferase when the question asks for the biochemical abnormailty (which it should).