Biochem 460: Case study on gilbert syndrome

1. DAVIS NYARIKI
CASE STUDY :GILBERT SYNDROME(HYPERBILIRUBINAEMIA)

2. CONSIDER THE FOLLOWING PATIENT:
• A 42 years old man of East Asia origin is admitted at Sanford Health
complain of recurrent jaundice. The first episode began 4 months
back and recovered within 2 weeks. The second episode was noticed
1 week before admission. Anorexia accompanied both the episodes
although there was no nausea, vomiting or abdominal pain. Yellow
coloration of urine was not noticed in either of the episodes. On
examination, he was icteric with no other abnormal sign.

3. WHAT DIAGNOSIS WOULD YOU GIVE?
WHAT ADDITIONAL TEST WOULD YOU PERFORM?

4. CASE STUDY:
• Bilirubin testing: checks for levels of bilirubin in your blood.
• Complete blood count: is a blood test used to evaluate your overall
health and detect a wide range of disorders, including anemia, infection
and leukemia.
• Liver function tests are blood tests used to help diagnose and monitor
liver disease or damage.
• Melting Temperature Assay for a UGT1A Gene Variant

5. GILBERT SYNDROME
• Gilbert syndrome can have different inheritance
patterns. When the condition is caused by the
UGT1A1*28 change in the promoter region of the
UGT1A1 gene, it is inherited in an autosomal recessive
pattern, which means both copies of the gene in each
cell have the mutation. The parents of an individual
with an autosomal recessive condition each carry one
copy of the mutated gene, but they typically do not
show signs and symptoms of the condition.
• When the condition is caused by a missense mutation
in the UGT1A1 gene, it is inherited in an autosomal
dominant pattern, which means one copy of the
altered gene in each cell is sufficient to cause the
disorder. A more severe condition known as Crigler-
Najjar syndrome occurs when both copies of the
UGT1A1 gene have mutations.
This type of mutation, known as a missense
mutation, results in reduced enzyme function.
People with Gilbert syndrome

6. GIBERT SYNDROME MUTATION:
UGT 1A1, and emphasize
the effect of mutations of
this gene on the
pathogenesis of neonatal
jaundice.

7. GILBERT SYNDROME:
• Gilbert's (zheel-BAR) syndrome is a common, harmless liver condition in which
the liver doesn't properly process bilirubin. Bilirubin is produced by the
breakdown of red blood cells.
• If you have Gilbert's syndrome — also known as constitutional hepatic
dysfunction and familial nonhemolytic jaundice — you're born with it as a result
of an inherited gene mutation. You might not know you have the condition until
it's discovered by accident, such as when a blood test shows elevated bilirubin
levels.
• Gilbert syndrome is a common condition that is estimated to affect 3 to 7
percent of Americans.

8. GILBERT SYNDROME:
• Gilbert's syndrome requires no treatment.

9. CITATION:
• Chowdhury JR, et al. Gilbert's syndrome and unconjugated hyperbilirubinemia due to bilirubin
overproduction. http://www.uptodate.com/home. Accessed March 11, 2015.
• Gilbert syndrome. American Liver Foundation.
http://www.liverfoundation.org/abouttheliver/info/gilbertsyndrome/. Accessed March 11, 2015.
• Gilbert syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/gilbert-syndrome.
Accessed March 11, 2015
• Mélanie Rouleau, Pierre Collin, Judith Bellemare, Mario Harvey, Chantal Guillemette.Biochemical
JournalFeb 2013,450)107-114;
• Nicola Marziliano, Elisabetta Pelo, Barbara Minuti, Ilaria Passerini, Francesca Torricelli, Luigi Da
PratoClinical Chemistry Mar 2000, 46 (3) 423-425