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SM_155b: Approach to Newborn with Suspected Liver Disease Flashcards

1
Q

Describe the definitions of cholestasis

A

Cholestasis

  • Physiologic: measurable decrease in bile flow
  • Pathologic: histologic presence of bile pigment in hepatocytes and bile ducts
  • Clinical: accumulation in bile or extrahepatic tissues of substances normally excreted in bile
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2
Q

Cholestasis occurs as a result of ____ or ____

A

Cholestasis occurs as a result of impaired bile formation or obstruction to bile flow through intrahepatic and extrahepatic biliary tree

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3
Q

Liver dysfunction in the neonate is associated with ____ and ____

A

Liver dysfunction in the neonate is associated with failure of bile secretion and conjugated hyperbilirubinemia

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4
Q

____ is a frequent early presenting feature in neonatal liver disease as opposed to a late feature in adults

A

Jaundice is a frequent early presenting feature in neonatal liver disease as opposed to a late feature in adults

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5
Q

Lack of bile flow in children may lead to ____

A

Lack of bile flow in children may lead to fat soluble vitamin malabsorption

  • Vitamin D: rickets
  • Vitamin K: coagulopathy
  • Vitamin A: night blindness
  • Vitamin E: neuropathy
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6
Q

Portal hypertension can present as ____ and ____

A

Portal hypertension can present as ascites and varices

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7
Q

Most infants will have ____ serum bilirubin in the first week of life

A

Most infants will have elevated serum bilirubin in the first week of life

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8
Q

Jaundice proceeds in a ____ manner

A

Jaundice proceeds in a cephalopedial manner

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9
Q

Causes of neonatal jaundice include ____, ____, and ____

A

Causes of neonatal jaundice include increased production of bilirubin, decreased excretion of bilirubin, and combined increased production and decreased excretion

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10
Q

Consider liver disease in neonates if ____ or ____

A

Consider liver disease in neonates if serum direct bilirubin concentration > 2 mg/dl or serum direct bilirubin > 15% of total bilirubin

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11
Q

Jaundice often occurs with ____ stools

A

Jaundice often occurs with clay-colored stools

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12
Q

Describe evaluation of liver disease on newborn physical exam

A

Evaluation of liver disease on newborn physical exam

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13
Q

Life-threatening causes of liver disease in children include ____ and ____

A

Life-threatening causes of liver disease in children include infection/sepsis and inborn errors of metabolism

  • Bacterial, viral (especially HSV)
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14
Q

Describe diagnostic evaluation of neonatal liver disease

A

Diagnostic evaluation of neonatal liver disease

  • Fractionated serum bilirubin
  • Tests of hepatocellular and biliary disease: AST, ALT, Alk Phos, GGT
  • Tests of liver function: serum albumin, prothrombin time, blood glucose, ammonia
  • Ultrasonography
  • Blood culture / viral serologies
  • Urine reducing substances
  • Thyroid panel
  • Newborn screen
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15
Q

Neonatal cholestasis includes ____, ____, and ____

A

Neonatal cholestasis includes disorders of bilirubin metabolism, intrahepatic liver disease, and disorders of bile duct obstruction

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16
Q

Differential diagnosis of disorders of bilirubin metabolism include ____, ____, and ____

A

Differential diagnosis of disorders of bilirubin metabolism include Gilbert’s syndrome, Crigler Najjar Syndrome, and Dustin Johnson Syndrome

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17
Q

Gilbert’s syndrome results from ____

A

Gilbert’s syndrome results from alteration in the promoter for the bilirubin uridine diphosphate glucuronyl transferase (UDP-GT) gene

  • Causes mild indirect hyperbilirubinemia
  • Benign clinical course
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18
Q

Crigler-Najjar syndrome type I is ____

A

Crigler-Najjar syndrome type I is a severe form characterized by complete absence of UDP-GT

  • Very high bilirubin
  • Continuous phototherapy and frequent exchange transfusions are required
  • Kernicterus may occur at any time
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19
Q

Crigler-Najjar syndrome type II is ____

A

Crigler-Najjar syndrome type II is partial activity of UDP-GT gene

  • Hyperbilirubinemia of 10 mg/dl is usually observed and may be responsive to CYP450 compounds such as phenobarbital
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20
Q

Dustin Johnson Syndrome is ____

A

Dustin Johnson Syndrome is genetic deficiency in cMOAT/MRP2 gene which encodes the canalicular transporter of conjugated bilirubin

  • Manifests as mild conjugated hyperbilirubinemia with no evidence of significant hepatocellular or canalicular injury
  • Preponderance of isoform I in urinary coprophyrins
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21
Q

Bile flow is directly related to ____

A

Bile flow is directly related to bile acid excretion by the hepatocyte

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22
Q

Hepatic causes of neonatal cholestasis are ____, ____, ____, ____, and ____

A

Hepatic causes of neonatal cholestasis are inflammatory, necrosis / autoimmune, strong A1AT, bile formation, and metabolic (galactosemia, tyrosinemia)

23
Q

Idiopathic neonatal hepatitis is ____

A

Idiopathic neonatal hepatitis is idiopathic liver disease characterized by multi-nucleated giant cells

  • Premature and small for gestational age
  • Jaundice and hepatosplenomegaly appearing in the first week after birth
  • Diagnosis of exclusion
24
Q

Gestational alloimmune liver disease is a ____ that involves ____

A

Gestational alloimmune liver disease is a rare neonatal condition that involves severe liver disease / failure in association with extrahepatic siderosis in a pattern of heriditary hemochromatosis

  • Uron deposition
25
Gestational alloimmune liver disease pathogenesis involves \_\_\_\_
Gestational alloimmune liver disease pathogenesis involves maternal antibody crossing placenta to attack neonatal liver
26
Gestational alloimmune liver disease presents as ____ and \_\_\_\_
Gestational alloimmune liver disease presents as complement mediated hepatocyte necrosis and neonatal liver failure * Jaundice * Hepatic synthetic dysfunction * Normal liver enzymes
27
Alpha 1 antitrypsin is \_\_\_\_
Alpha 1 antitrypsin is the principal serum inhibitor of proteolytic enzymes such as neutrophil elastasis
28
Patients with ____ alpha 1 antitrypsin deficiency have ____ phenotype and the most severe disease
Patients with homozygous alpha 1 antitrypsin deficiency have PiZZ phenotype and the most severe disease
29
Alpha 1 antitrypsin deficiency presents with \_\_\_\_, \_\_\_\_, \_\_\_\_, and \_\_\_\_
Alpha 1 antitrypsin deficiency presents with neonatal cholestasis, juvenile cirrhosis, chronic hepatitis, and hepatocellular carcinoma * Cholestatic juandice * Advanced liver disease with ascites or GI bleeding rarely * Associated with emphysema in young adulthood
30
Disorders of bile formation are \_\_\_\_
Disorders of bile formation are progressive familial intraheptic cholestasis
31
PFIC-1 (Byler's disease) is ____ characterized by \_\_\_\_
PFIC-1 (Byler's disease) is FIC1 deficiency characterized by severe cholestasis with normal GGT * Children with characteristic granular bile seen on electron microscopy
32
PFIC-2 (BSEP disease) is ____ characterized by \_\_\_\_
PFIC-2 (BSEP disease) is Bile Salt Export Protein deficiency characterized by severe cholestasis with normal GGT * Associated with increase in hepatocellular carcinoma
33
PFIC-3 is ____ characterized by \_\_\_\_
PFIC-3 is deficiency of hepatocyte membrane transporter MDR3 characterized by severe cholestasis with an elevated GGT
34
Describe formation and excretion of bile
Formation and excretion of bile
35
Describe partial external biliary diversion
Partial external biliary diversion (surgery) * Isoperistaltic jejundal conduit between the done of the gallbladder and abdominal wall * Interrupts enterohepatic circulation of bile acids -\> decreased influx of bile into gut -\> less reuptake and overall decrease of bile acid pool * Used in Alagille syndrome / PFIC
36
Metabolic causes of liver injury involve \_\_\_\_
Metabolic causes of liver injury involve buildup of toxic metabolites in liver * Often genetic defects causing deficient enzyme * Examples: galactosemia, tyrosinemia
37
Galactosemia is caused by deficiency of ____ leading to buildup of toxic metabolites ____ and \_\_\_\_
Galactosemia is caused by deficiency of galactose-1-phosphate uridyl transferase leading to buildup of toxic metabolites galactose-1-phosphate and galactitiol * Presents as lethargy, vomiting, acidosis, cataracts, FTT, jaundice, UTI, gram negative sepsis (E. coli), and hemolytic anemia * Treatment is dietary therapy
38
Tyrosinemia is caused by \_\_\_\_
Tyrosinemia is caused by deficiency of fumarylacetoacetate hydrolase * Last enzyme in tyrosine degradation pathway * Autosomal recessive * Presents in infancy: acute liver dysfunction, jaundice, hepatomegaly, FTT, anorexia, ascites coagulopathy, rickets, hemolytic anemia, renal tubular dysfunction with fanconi syndrome * Urine succinyl acetone is diagnostic
39
Disorders of bile duct obstruction are \_\_\_\_, \_\_\_\_, \_\_\_\_, and \_\_\_\_
Disorders of bile duct obstruction are anatomic intrahepatic (Alagille's syndroem), cystic fibrosis, anatomic extrahepatic (choledochal cyst), and inflammatory
40
Alagille's Syndrome is caused by ____ which \_\_\_\_
Alagille's Syndrome is caused by a genetic defect on chromosome 20 in the Jagged 1 gene which disrupts the NOTCH signaling pathway involved in biliary development * Characterized by reduced interlobular bile ducts and associated cardiac, skeletal, ocular, facial, renal, and neurodevelopmental abnormalities
41
Alagille's syndrome presents as \_\_\_\_
Alagille's syndrome presents as jaundice in newborn period with conjugated hyperbilirubinemia
42
Alagille's Syndrome face is \_\_\_\_
Alagille's Syndrome face is broad prominent forehead, deep-set eyes, and a small, pointed chin * Xanthomas develop in patients with chronic hypercholesterolemia * Vascular anomalies cause most mortality * 15% progressive to cirrhosis and liver failure
43
Alagille's syndrome involves a paucity of \_\_\_\_
Alagille's syndrome involves a paucity of bile ducts (unable to see bile ducts in portal triad)
44
Cystic fibrosis results from a mutation in \_\_\_\_
Cystic fibrosis results from a mutation in CFTR channel (Cl- transporter)
45
Cystic fibrosis liver disease pathology is \_\_\_\_
Cystic fibrosis liver disease pathology is mucin plugs in the bile ducts
46
Anatomic extrahepatic disorder of bile duct obstruction is \_\_\_\_
Anatomic extrahepatic disorder of bile duct obstruction is choledochal cyst
47
Choledochal cyst presentation age ____ and classic triad includes \_\_\_\_, \_\_\_\_, and \_\_\_\_
Choledochal cyst presentation age varies and classic triad includes abdominal pain, jaundice, and palpable RUQ pain * Plurality in first year of life * Other symptoms include fever, nausea, vomiting w/ or w/o pancreatitis * Ultrasound is most valuable test * High incidence of biliary malignancy detected in middle age (cholangiocarcinoma)
48
Biliaery atresia is \_\_\_\_
Biliaery atresia is extrahepatic obstruction of bile ducts leading to cholestasis, cirrhosis, and liver failure if left untreated
49
Biliary atresia presents in ____ period with ____ and \_\_\_\_
Biliary atresia presents in neonatal period with jaundice and pale colored stools
50
Biliary atresia types are ____ and \_\_\_\_
Biliary atresia types are splenic malformation * Biliary atresia splenic malformation: associated with polysplenia, laterality defects, of embryonic origin * Perinatal: due to virla infection which directs inflammation against bile ducts
51
Biliary atresia pathology involves ____ and portal triad involves \_\_\_\_
Biliary atresia pathology involves progressive fibrosis of bile ducts and portal triad involves many bile ducts
52
This is \_\_\_
This is biliary atresia
53
Biliary atresia is treated with \_\_\_\_
Biliary atresia is treated with hepatic portoenterostomy (Kasai procedure) * Can restore bile flow in some patients if diagnosed in first 2-3 months of life * Total bilirubin \> 2 at 3 months of age (indicating poor bile drainage) is strong predictor of transplant * Many have portal hypertension even if had procedure

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