Tag: Breast milk jaundice

Hyperbilirubinemias

hyperbilirubinemia

Q. 1

Following are causes of unconjugated hyperbilirubinemia, except:
 A Hemolytic anemia

 B

Large hematoma

 C

Rotor syndrome

 D

Megaloblastic anemia

Q. 1

Following are causes of unconjugated hyperbilirubinemia, except:

 A Hemolytic anemia

 B

Large hematoma

 C

Rotor syndrome

 D

Megaloblastic anemia

Ans. C

Explanation:

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:

Indirect hyperbilirubinemia                                                              

Direct hyperbilirubinemia

A.   Hemolytic disorders

A.   Inherited conditions

1.    Inherited

1.     Dubin-Johnson syndrome

a.   Sperocyteosis, elliptocytosis

2.     Rotor’s syndrome

Glucose-6-phosphate dehydrogenase and pyruvate kinase deficiencies

b. Sickle cell anemia

 

2.    Acquired                         _

a. Microangiopathic hemolytic anemias

b. Paraoxysmal nocturnal hemoglobinuria

c. Immune hemolysis

 

B.    Ineffective erythropoesis

 

1.    Cobalamin, folate, thalassemia, and severe iron deficiencies

 

C. Drugs

 

1.    Rifampicin, probenbecid, ribavirin

 

D.   Inherited conditions

 

1.    Crigler-Najjar types I and II

 

2.    Glibert’s syndrome

 


Q. 2 Conjugated hyperbilirubinemia is seen in all EX­CEPT:
March 2013

 A

Dubin Johnson syndrome

 B

Rotor syndrome

 C

Gilbert syndrome

 D

None of the above

Q. 2

Conjugated hyperbilirubinemia is seen in all EX­CEPT:
March 2013

 A

Dubin Johnson syndrome

 B

Rotor syndrome

 C

Gilbert syndrome

 D

None of the above

Ans. C

Explanation:

Ans. C i.e. Gilbert syndrome
Gilbert syndrome presents with unconjugated hyperbilirubinemia


Q. 3

Unconjugated hyperbilirubinemia is seen in all of the following except:   
March 2010

 A

Crigler Najjar Syndrome

 B

Physiological jaundice

 C

Dubin-Johnson syndrome

 D

Gilbert syndrome

Q. 3

Unconjugated hyperbilirubinemia is seen in all of the following except:   
March 2010

 A

Crigler Najjar Syndrome

 B

Physiological jaundice

 C

Dubin-Johnson syndrome

 D

Gilbert syndrome

Ans. C

Explanation:

Ans. C: Dubin-Johnson Syndrome

Dubin-Johnson syndrome is an autosomal recessive disorder that causes an increase of conjugated bilirubin without elevation of liver enzymes (ALT, AST).

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 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)

Quiz In Between


Q. 4 Conjugated hyperbilirubinemia

 A

Dubin johnson syndrome

 B

Criggler naj jar syndrome

 C

Breast milk jandice

 D

Gilbert syndrome

Q. 4

Conjugated hyperbilirubinemia

 A

Dubin johnson syndrome

 B

Criggler naj jar syndrome

 C

Breast milk jandice

 D

Gilbert syndrome

Ans. A

Explanation:

Ans. is ‘a’ i.e., Dubin johnson syndrome
Breast milk jaundice –

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

Crigler naj jar & Gilbert syndrome (deficiency of glucuronyl transferase)

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

Q. 5 Causes of unconjugated hyperbilirubinemia include?

 A

Sepsis

 B

Criggler-Najar syndrome

 C

Rotor syndrome

 D

Gilbert syndrome

Q. 5

Causes of unconjugated hyperbilirubinemia include?

 A

Sepsis

 B

Criggler-Najar syndrome

 C

Rotor syndrome

 D

Gilbert syndrome

Ans. A:B:D:E

Explanation:

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.

Q. 6 Congenital hyperbilirubinemia is/are seen in: 

 A

Prematurity

 B

Hypoalbuminaemic state

 C

Hepatitis

 D

Sepsis

Q. 6

Congenital hyperbilirubinemia is/are seen in: 

 A

Prematurity

 B

Hypoalbuminaemic state

 C

Hepatitis

 D

Sepsis

Ans. A:C:D:E

Explanation:

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

Quiz In Between



Hyperbilirubinemias

HYPERBILIRUBINEMIAS


HYPERBILIRUBINEMIAS

Depending on the nature of the bilirubin elevated, the condition may be grouped into:-

→ conjugated or Unconjugated  hyperbilirubinemia.

A → Congenital  Hyperbilirubinemias

They result from abnormal uptake, conjugation or excretion of bilirubin due to inherited defects such as

Crigler-Najjar Syndrome

  • The defect is due to conjugation, there is severe deficiency of UDP glucuronyl  transferase. The disease is often fatal and the children die before the age of 2.
  • Unconjugated bilirubin level increases to more than 20mg/dl, and hence kernicterus results.
  • Bilirubin level  in blood exceeds 20 mg/dl in Crigler-Najjar syndrome Type 1 and does not exceed 20 mg/dl in Crigler-Najjar syndrome Type 2.

Gilbert’s Disease:

  • It is inherited as an autosomal dominant trait.
  • The defect is in the uptake of bilirubin by the liver.
  • Bilirubin level is usually around 3 mg/dl, and patient is asymptomatic, except for the presence of mild jaundice.

Dubin-Johnson Syndrome:

  • It is an autosomal recessive trait leading to defective excretion of conjugated bilirubin.
  • The disease results from the defective ATP-dependent organic anion transportin bile canaliculi.
  • There is a mutation in the MRP-2 protein which is responsible for transport of  conjugated bilirubin into bile.
  • The bilirubin gets deposited in the liver and the liver appears black. The condition is referred to as Black liver jaundice.

Rotor Syndrome

  • exact defect is not identified. Bilirubin excretion is defective, but there is no staining of the liver. It is an autosomal recessive condition.

B→Acquired Hyperbilirubinemias:

Physiological Jaundice:

  • Called as neonatal hyperbilirubinemia.
  • Transient  hyperbilirubinemia  is due to an accelerated rate of destruction of RBCs and also because of the immature hepatic system of conjugation of bilirubin.

Breast milk jaundice

  • In some breast-fed infants, prolongation of the  jaundice has been attributed to high level of an estrogen derivative in maternal blood, which is excreted through the milk.

Conjugated Hyperbilirubinemias

  • Dubin Johnson’s syndrome
  • Rotor syndrome
  • Benign Recurrent intrahepatic Cholestatsis (BRIC)
  • Progressive Familial intrahepatic Cholestatsis (FIC)

Exam Important

  • Unconjugated Hyperbilirubinemia is associated with > 85% indirect bilrubin or less than 15% of direct bilirubin.
  • Hemolytic disorders and increased hemoglobin destruction cause unconjugated or indirect hyperbilirubinemia.
  • Biliary atresia and neonatal hepatitis lead to conjugated hyperbilirubinemia.
  • Uncojugated hyperbilirubinemias is-Gilbert’s disease, Crigler-Najjarsyndrome.
  • Conjugated Hyperbilirubinemias-A. Dubin Johnson’s syndrome, B. Rotor syndrome, c.Benign Recurrent intrahepatic Cholestatsis (BRIC), d.Progressive Familial intrahepatic Cholestatsis (FIC)
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