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GI > SM_155b: Approach to Newborn with Suspected Liver Disease > Flashcards

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
Q

Gestational alloimmune liver disease pathogenesis involves ____

A

Gestational alloimmune liver disease pathogenesis involves maternal antibody crossing placenta to attack neonatal liver

26
Q

Gestational alloimmune liver disease presents as ____ and ____

A

Gestational alloimmune liver disease presents as complement mediated hepatocyte necrosis and neonatal liver failure

  • Jaundice
  • Hepatic synthetic dysfunction
  • Normal liver enzymes
27
Q

Alpha 1 antitrypsin is ____

A

Alpha 1 antitrypsin is the principal serum inhibitor of proteolytic enzymes such as neutrophil elastasis

28
Q

Patients with ____ alpha 1 antitrypsin deficiency have ____ phenotype and the most severe disease

A

Patients with homozygous alpha 1 antitrypsin deficiency have PiZZ phenotype and the most severe disease

29
Q

Alpha 1 antitrypsin deficiency presents with ____, ____, ____, and ____

A

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
Q

Disorders of bile formation are ____

A

Disorders of bile formation are progressive familial intraheptic cholestasis

31
Q

PFIC-1 (Byler’s disease) is ____ characterized by ____

A

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
Q

PFIC-2 (BSEP disease) is ____ characterized by ____

A

PFIC-2 (BSEP disease) is Bile Salt Export Protein deficiency characterized by severe cholestasis with normal GGT

  • Associated with increase in hepatocellular carcinoma
33
Q

PFIC-3 is ____ characterized by ____

A

PFIC-3 is deficiency of hepatocyte membrane transporter MDR3 characterized by severe cholestasis with an elevated GGT

34
Q

Describe formation and excretion of bile

A

Formation and excretion of bile

35
Q

Describe partial external biliary diversion

A

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
Q

Metabolic causes of liver injury involve ____

A

Metabolic causes of liver injury involve buildup of toxic metabolites in liver

  • Often genetic defects causing deficient enzyme
  • Examples: galactosemia, tyrosinemia
37
Q

Galactosemia is caused by deficiency of ____ leading to buildup of toxic metabolites ____ and ____

A

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
Q

Tyrosinemia is caused by ____

A

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
Q

Disorders of bile duct obstruction are ____, ____, ____, and ____

A

Disorders of bile duct obstruction are anatomic intrahepatic (Alagille’s syndroem), cystic fibrosis, anatomic extrahepatic (choledochal cyst), and inflammatory

40
Q

Alagille’s Syndrome is caused by ____ which ____

A

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
Q

Alagille’s syndrome presents as ____

A

Alagille’s syndrome presents as jaundice in newborn period with conjugated hyperbilirubinemia

42
Q

Alagille’s Syndrome face is ____

A

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
Q

Alagille’s syndrome involves a paucity of ____

A

Alagille’s syndrome involves a paucity of bile ducts (unable to see bile ducts in portal triad)

44
Q

Cystic fibrosis results from a mutation in ____

A

Cystic fibrosis results from a mutation in CFTR channel

(Cl- transporter)

45
Q

Cystic fibrosis liver disease pathology is ____

A

Cystic fibrosis liver disease pathology is mucin plugs in the bile ducts

46
Q

Anatomic extrahepatic disorder of bile duct obstruction is ____

A

Anatomic extrahepatic disorder of bile duct obstruction is choledochal cyst

47
Q

Choledochal cyst presentation age ____ and classic triad includes ____, ____, and ____

A

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
Q

Biliaery atresia is ____

A

Biliaery atresia is extrahepatic obstruction of bile ducts leading to cholestasis, cirrhosis, and liver failure if left untreated

49
Q

Biliary atresia presents in ____ period with ____ and ____

A

Biliary atresia presents in neonatal period with jaundice and pale colored stools

50
Q

Biliary atresia types are ____ and ____

A

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
Q

Biliary atresia pathology involves ____ and portal triad involves ____

A

Biliary atresia pathology involves progressive fibrosis of bile ducts and portal triad involves many bile ducts

52
Q

This is ___

A

This is biliary atresia

53
Q

Biliary atresia is treated with ____

A

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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