DISEASES RELATED TO LIVER FUNCTION

Question 1

Jaundice Comes from the word “_______” meaning __________

Answer 1

jaune - yellow

Question 2

Characterized by the yellow discoloration of the skin,
mucous membrane, and sclera, most often because of _________

Answer 2

bilirubin

Question 3

three types of jaundice

Answer 3

→ Prehepatic jaundice
→ Hepatic jaundice
→ Posthepatic jaundice

Question 4

● Not synonymous with jaundice in the clinical laboratory setting

→ Refers to to serum or plasma with yellow discoloration due to
elevated bilirubin

Answer 4

Icterus

Question 5

Excessive amount of bilirubin is presented to the liver for metabolism

Answer 5

PREHEPATIC JAUNDICE

Question 6

↑ breakdown of RBCs

Answer 6

→ Hemolysis
→ Hemolytic anemia

Question 7

breakdown of RBCs because of the parasite Plasmodium spp.

Answer 7

Malaria

Question 8

→ Unconjugated hyperbilirubinemia

Answer 8

● Increased B1

Question 9

● Impaired bilirubin excretion
● Elevated B2

Answer 9

B. POSTHEPATIC JAUNDICE

Question 10

→ Biliary obstruction diseases of post hepatic jaundice

Answer 10

▪ Gallstones, tumor

Question 11

● Result from impaired cellular uptake, defective conjugation, or
abnormal secretion of bilirubin by the liver cell(intrinsic liver
defect or or disease)

Answer 11

C. HEPATIC JAUNDICE

Question 12

HEPATIC JAUNDICE
Unconjugated hyperbilirubinemia
→ ↑B1
1.
2.

● Conjugated hyperbilirubinemia
→ ↑B2
1.
2.

Answer 12

Unconjugated
1.Gilbert Syndrome
2. Crigler-Najjar Syndrome

Conjugated
1. Dubin-Johnson Syndrome
2. Rotor’s Syndrome

Question 13

● Benign autosomal recessive hereditary disorder
● Genetic mutation of UGT1A1
● elevated B1

Answer 13

Gilbert Syndrome

Question 14

→ In Gilbert Syndrome Liver is still functioning at ______ percent

Answer 14

30 %

Question 15

● Gilbert syndrome may have no symptoms but with _________

Answer 15

mild icterus

Question 16

It is more serious than Gilbert syndrome

Answer 16

Crigler-Najjar Syndrome

Question 17

It is characterized by deficiency of the enzyme UDPGT

Answer 17

Crigler-Najjar Syndrome

Question 18

What type?

Complete absence of UDPGT
− No conjugation of bilirubin

Answer 18

→ Type 1

Question 19

In Crigler-Najjar Syndrome the life expectancy is ________

Answer 19

<1yr

Question 20

What type?

Severe/partial deficiency of UDPGT

Answer 20

→ Type 2

Question 21

● Autosomal recessive disease which presents shortly after birth
with an increase of conjugated bilirubin without elevation of liver
enzymes (ALT, AST)

Answer 21

Dublin-Johnson Syndrome

Question 22

Deficiency in canalicular multidrug resistance/ multispecific
organic anionic transporter protein (MDR2/cMOAT)

Answer 22

Dubin-Johnson Syndrome

Question 23

AST and ALT in Dubin-Johnson Syndrome stands for?

Answer 23

Aspartate transaminase (AST)
Alanine transaminase (ALT)

Question 24

Defective excretion by the liver cell

Answer 24

Dublin-Johnson Syndrome

Question 25

Dubin-Johnson Syndrome → ____in the hepatocyte cannot easily transport into the bile canal

Answer 25

B2

Question 26

Liver granules are not pigmented(liver biopsy)

Answer 26

Rotor’s Syndrome

Question 27

One test to differentiate Dublin-Johnson from ____________

Answer 27

Liver biopsy - Rotors syndrome

Question 28

● Same symptoms with Dubin-Johnson Syndrome

Answer 28

Rotor’s Syndrome

Question 29

● Increased ________ in Rotor's syndrome

Answer 29

B2

Question 30

● Unknown etiology; ______________

Answer 30

Good prognosis - Rotor's syndrome

Question 31

→ Neuronal degeneration

Answer 31

Kernicterus

Question 32

Give me at least 4 Physiological Jaundice of the Newborn

Answer 32

● Deficiency of UDPGT → results in the rapid buildup of unconjugated bilirubin, which can be life threatening ● Kernicterus → Neuronal degeneration ● Cell damage and death in newborn ● Phototherapy (UV) or exchange transfusion (extreme case) DKCP

Question 33

● Bilirubin-conjugation inhibition

Answer 33

Lucey-Driscoll Syndrome

Question 34

● Aka. Transient Familial Neonatal Hyperbilirubinemia TFNH

Answer 34

Lucey-Driscoll Syndrome

Question 35

● Circulating inhibitor of bilirubin conjugation

Answer 35

Lucey-Driscoll Syndrome