Gilbert's syndrome

From Academic Kids

Gilbert's syndrome or familial benign unconjugated hyperbilirubinaemia is a genetic disorder of bilirubin metabolism, found in about 5% of the population.

Contents

Signs and symptoms

The syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no other effect. Rarely, mild jaundice may appear, and some patients report fatigue and "brain fog" during episodes of high bilirubin levels. There is some evidence that Gilbert's syndrome also reduces the liver's ability to detoxify certain chemicals; it may be wise to avoid drugs that tax liver function, such as acetaminophen.

Diagnosis

While this syndrome is considered harmless, it is clinically important because it may be confused with much more dangerous liver conditions. However, these will show other indicators of liver dysfunction. Haemolysis can be excluded by a full blood count and lactate dehydrogenase levels. Liver biopsy is rarely necessary. Normal levels of Total Bilirubin (conjugated and unconjugated) are under 20 mmol/dl.Patients with GS show only elevated unconjugated bilirubin, while conjugated is in normal ranges.Levels of bilirubin in GS patients should be between 20 mmol/dl and 80 mmol/dl.It is proven that GS patients have a 30% slower Gluconuitril transferase rate than normal. The onset of GS is often in childhood or early adulthood. A more severe types of gluconitril transferase disorders like GS are Criggler-Najjar Syndromes Type I and II. Patients with type I disorder show no bilirubin detoxification and suffer from brain damage due to exessive bilirubin levels(both conjugated and unconjugated bilirubin are elevated).Infants with this disorder live not more than one year.There are cases of Criggler-Najjar Type I patients living twenty or thirty years. It is arguable that GS is benign, due to many reported symptoms by GS patients.

History

Gilbert's syndrome is thought to be caused by a deficiency in the enzyme glucuronosyltransferase. It was first described by Augustin Nicolas Gilbert and co-workers in 1900.

External links

nl:Syndroom van Gilbert

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