hyperbilirubinemia

The answer is C (Rotor syndrome)

Rotor’s syndrome is an autosomal recessive inherited disorder characterized by a deject in biliary excretion leading to conjugated hyperbilirubinemia:

Ans. C i.e. Gilbert syndrome

Gilbert syndrome presents with unconjugated hyperbilirubinemia

Ans. C: Dubin-Johnson Syndrome

This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile.

The conjugated hyperbilirubinemia is a result of the defective endogenous and exogenous transfer of anionic conjugates from hepatocytes into the bile.

Pigment deposition in lysosomes causes the liver to turn black.

Other causes of conjugated/direct hyperbilirubinemia:

• Hepatocellular diseases:

– Hepatitis:

• Neonatal idiopathic hepatitis
• Viral (Hepatitis B, C, TORCH infections)
• Bacterial (E. colt, urinary tract infections)

–        Total parenteral nutrition

–        Hepatic ischemia (post-ischemic damage)

–        Erythroblastosis fetalis (late, “Inspissated Bile Syndrome”)

Metabolic disorders:

• Alpha-1 antitrypsin deficiency
• Galactosemia, tyrosinemia, fructosemia
• Glycogen storage disorders
• Cystic fibrosis

Biliary tree abnormalities:

–         Extrahepatic biliary atresia: In first 2 weeks, unconjugated bilirubin predominates; elevated conjugated bilirubin is late.

–        Paucity of bile ducts

–        Choledochal cyst

–        Bile plug syndrome

Causes of unconjugated/indirect hyperbilirubinemia:

• Increased lysis of RBCs (i.e., increased hemoglobin release)

–        Isoimmunization (blood group incompatibility: Rh, ABO and minor blood groups)

–        RBC enzyme defects (e.g., G6PD deficiency, pyruvate kinase deficiency)

–        RBC structural abnormalities (hereditary spherocytosis, elliptocytosis)

–        Infection (sepsis, urinary tract infections)

–        Sequestered blood (e.g., cephalohematoma, bruising, intracranial hemorrhage)

–        Neonatal Jaundice

–        Polycythemia

–        Shortened life span of fetal RBCs

Decreased hepatic uptake and conjugation of bilirubin

–        Immature glucuronyl transferase activity in all newborns: term infants have 1% of adult activity, preterm infants have 0.1%.

–        Gilbert Syndrome

–        Crigler Najjar Syndrome (Non-hemolytic Unconjugated Hyperbilirubinemia): inherited conjugation defect (very rare)

–        Breastmilk Jaundice (pregnanediol inhibits glucuronyl transferase activity)

Increased enterohepatic reabsorption

–        Breastfeeding jaundice (due to dehydration from inadequate milk supply)

Ans. is ‘a’ i.e., Dubin johnson syndrome

Breast milk jaundice –

• Decrease bilirubin uptake across hepatocyte membrane.
• Entero-hepatic recirculation.
• Leads to indirect hyperbilirubinemia.

Crigler najjar & Gilbert syndrome (deficiency of glucuronyl transferase)

• Decrease conjugation leads to Indirect hyperbilirubinemia.
• Defect in hepatocyte secretion of conjugated bilirubin.
• Leads to direct hyperbilirubinemia

Answer- A, B, D, E, Sepsis, Criggler-Najar syndrome, Gilbert syndrome, Intravascular hemolysis

Unconjugated hyperbilirubinemia:-

• Increased production of bilirubin from hemoglobin, So that the capacity of liver to conjugate bilirubin is overwhelmed by increased production, e.g.

1. Hemolytic anemia (both intravascular and extamascular)s Hereditary sphnocytosis, G6PD defciency.
2. Inefrective erythropoiesis- Thalassemia, Pernicious anemia.
3. Reduced hepatic uptake of bilirubin from bilirubin – albumin complex > Drugs,
4. Infections:- Sepsis, UTI
5. Impaired hepatic conjugation.

Ans. a. Prematurity; c. Hepatitis; d. Sepsis; e. Polycythemia

Albumin less than 3.0 mg/dl is risk for hyperbilirubinemia neurotoxicity

Two other groups of disorders are associated with hyperbilirubinemia:

(1) Unconjugated hyperbilirubinemia seen in,

• Breast milk jaundice
• Blood group incompatibility
• Lucey-Driscoll syndrome
• Congenital hypothyroidism
• Upper intestinal obstruction
• Gilbert disease
• Crigler-Najjar syndrome
• Hereditary spherocytosis
• Non-spherocytic hemolytic anemia
• Drug-induced hyperbilirubinemia

(2) Conjugated hyperbilirubinemia present in,

• Dubin-Johnson syndrome
• Rotor syndrome
• Biliary atresia
• Neonatal hepatitis