Congenital/Circulatory Dx of the Liver

Question 1

Crigler – Najjar Syndrome

• Genetics
• Path
• Types

Answer 1

• G: AR mutation in UGT1A1
• Path: Lack of/reduced UGT leads to unconjugated Bilirubin
• Types:
  Type 1: Absence of UGT; Fatal in Neonates; Tx reduce serum unconjugated Bilirubin
  Type 2: Reduced UGT; Usually Normal life

Question 2

Gilbert Syndrome

• Genetics
• Pathology

Answer 2

• G: AR-AD; Missense mutation in TATAA Box in UGT1A1 gene leading to GLY->ARG at P71
• PATH: Impaired clearance of bilirubin w/ no structural liver problems

Question 3

Dubin-Johnson Syndrome

• Genetics
• Path
• Histo
• S/S

Answer 3

• G: AR Mutation in ABCC2/MRP2
• PATH: Mutated channel leads to conjugated hyperbilirubinemia;
• Histo: Deposition of melanin-like pigment in Liver;; -> Black Liver
• S/S: intermittent jaundice (Esp preg, OIC, hemolytic Dx); dark urine

Question 4

Rotor Syndrome

• Genetics
• Morph
• Outlook

Answer 4

• G: AR mutation in Liver uptake transporter
• Morph: NO pigmentation of liver
• O: Normal lives

Question 5

Which zone of the liver is most sensitive to ischemic necrosis in vascular shock?

Answer 5

Zone 3

Question 6

Zhan infarct

• Et
• Morph

Answer 6

• Et: Acute occlusion of intrahepatic branches of the portal vein, with previous elevated hepatic venous pressure
• Morph: Sinusoidal dilation + Congestion. hepatic atrophy, and LACK of necrosis; “Dark-red, triangular area w/ bas at surface of liver

Question 7

Etiology of PVT in children

Answer 7

• Infections
• Umbilical catheter in netonate SEPSIS
• Appendicitis
• Congenital