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Boards.CP.Molecular > GI,Hepatobiliary,Pancreas > Flashcards

GI,Hepatobiliary,Pancreas Flashcards

-GI -Hepatobiliary -Pancreas

1
Q

Hirschsprung disease structural chromosomal abnormality.

A

Trisomy 21 (10% of cases)

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2
Q

Syndromes ass. w/ Hirschsprung.

A
  • NF1
  • MEN2A
  • Waardenburg syndrome
  • Congenital Central Hypoventilation (Haddad)
  • Familial Dysautonomia (Riley-Day)
  • Smith-Lemli-Opitz syndrome
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3
Q

Osler-Weber-Rendu syndrome inheritance/mutation.

A
  • Autosomal Dominant

- ENG gene or ACVRL1 gene

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4
Q

Osler-Weber-Rendu syndrome features.

A
  • Epistaxis (Children)
  • Skin lesions (Adolescence)
  • GI bleeding (Adults)
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5
Q

MCC of malabsorption in neonatal period.

A

Microvillus Inclusion Disease (MDD)

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6
Q

Microvillus Inclusion Disease (MDD) features.

A
  • Autosomal Recessive
  • Wall of sm. bowel is “paper thin” with villous blunting
  • Intracellular inclusions (PAS, CEA, CD10 Positive)
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7
Q

MC location of Intestinal Atresia.

A

Ileum

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8
Q

Intestinal Atresia inheritance.

A
  • 30% ass. w/ Down Syndrome.

- Most are isolated defects.

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9
Q

Gastroschisis is strongly associated with what?

A

DECREASED maternal age

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10
Q

Gastroschisis has very high levels of what?

A

Maternal Serum AFP

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11
Q

Gastroschisis vs. Omphalocele:

-Located midline, essentially within the umbilicus

A

Omphalocele

Gastroschisis is to the Right of the umbilicus

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12
Q

Gastroschisis vs. Omphalocele:

-Typically an Isolated Defect

A

Gastroschisis

(Omphalocele is associated with major cardiac defects, chromosomal abnormalities (trisomies 21, 18, 13), or Beckwith-Wiedman syndrome

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13
Q

Which HLA allele is associated with Celiac Sprue?

A

-HLA-DQ2 (~95%) (30% of general population)

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14
Q

Caroli disease mutation.

A

PKHD1 gene on chr6p (same as ARPKD)

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15
Q

Caroli disease features.

A
  • Segmental dilation of the intrahepatic bile ducts
  • Recurrent stone formation
  • Bacterial cholangitis
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16
Q

Alagille syndrome inheritance/mutation.

A
  • Autosomal Dominant

- JAG1 gene

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17
Q

Alagille syndrome features.

A
  • Dysmorphic features
  • Noninflammatory LOSS of interlobular BILE DUCTS
  • Cholestasis (neonatal period)
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18
Q

Hereditary Hemochromatosis (HH) inheritance/ mutation.

A
  • Autosomal Recessive

- HFE gene located within the MHC region on chr6p

19
Q

MC clinically significant mutation in HH.

A

-C282Y

2nd MC is H63D; found in 25% of whites

20
Q

T/F: Men are 2X more likely to develop complications of HH.

A

True

-Example of Autosomal Recessive condition with variable penetrance

21
Q

Pathophysiology of Hereditary Hemochromatosis.

A
  • Enhanced Intestinal Iron Absorption
  • Low HEPCIDIN levels
  • Iron deposition within hepatocytes, pancreas, pituitary, etc.
  • Cirrhosis
  • Pancreatic Fibrosis (DM)
  • Hypogonadotrophic Hypogonadism
  • Infertility
  • Osteoarthritis
  • Cardiomyopathy
  • BRONZE SKIN
22
Q

Wilson Disease (Hepatolenticular Degeneration) inheritance/mutation.

A
  • Autosomal Recessive

- ATP7B gene (encodes an ATPase utilized in copper binding to ceruloplasmin)

23
Q

Wilson disease presentation.

A
  • Liver disease
  • Neuropsychiatric (Kayser-Fleischer rings)
  • Hemolysis
24
Q

Wilson disease Liver Biopsy findings:

A
  • Glycogenated nuclei
  • Steatosis
  • Inflammation (similar to chronic viral hepatitis)
  • Ultimately Cirrhosis
25
Q

Wilson disease Lab findings.

A

-LOW Ceruloplasmin

  • HIGH urinary Copper excretion
  • Serum Copper is UNRELIABLE
26
Q

Alpha1-Antitrypsin (AAT) deficiency inheritance/gene/chr.

A
  • Autosomal Recessive
  • SERPINA1 (P1) gene on chr14

(Polymorphic)

27
Q

Most healthy adults are homozygous for which SERPINA1 gene allele?

A

M allele (Pi-MM)

28
Q

AAT deficiency is usually caused by what SERPINA1 genotype?

A

-Z allele (Pi-ZZ)

or Pi-ZS

29
Q

Bilirubin Excretion disorder subclasses.

A
  • Conjugation disorders

- Secretion disorders

30
Q

What are the two Bilirubin Conjugation disorders?

A
  • Gilbert syndrome

- Crigler-Najjar syndrome

31
Q

What are the two Bilirubin Secretion disorders?

A
  • Dubin-Johnson syndrome

- Rotar syndrome

32
Q

Gene involved in Bilirubin Conjugation disorders?

A

-UGT1A1 gene

33
Q

What enzyme is deficient in the Bilirubin Conjugation disorders (Gilbert and Crigler-Najjar)? What does this lead to?

A
  • Bilirubin Glucoronosyltransferase

- Increased Unconjugated bilirubin

34
Q

Gilbert syndrome mutation.

A

5’ TATA box in UGT1A1 promoter (5% of pop.)

Mildly deficient bilirubin conjugation

35
Q

Type I Vs. Type II Crigler-Najjar:

-NO glucoronosyltransferase activity.

A

Type I

Type II has <10% of normal

36
Q

Pathophysiology of Dubin-Johnson and Rotor syndromes.

A
  • Defective secretion of conjugated bilirubin into the canaliculus.
  • Mild Conjugated hyperbilirubinemia
37
Q

Dubin-Johnson mutation.

A

MRP2 (multidrug resistance protein 2) gene

38
Q

Main difference between Dubin-Johnson and Rotar syndrome.

A

Rotar syndrome does NOT have Pigmentated Hepatic Parenchyma

39
Q

Cystic Fibrosis gene/mutation.

A

-CFTR gene on chr7

chloride channel expressed in respiratory, GI, Skin, Hepatobiliary, Pancreas, Vas Deferens

40
Q

T/F: CF is the most common Autosomal Recessive condition in Whites.

A

True

-carrier frequency is 1 in 25 (affects 1 in 2,000 births)

41
Q

What syndrome is ass. w/ Autosomal Dominant Pancreatitis and Bone Marrow failure.

A

Pearson syndrome

42
Q

Pearson syndrome genetics.

A

Chromosomal breakage syndrome affecting the Mitochondrial DNA
(microdeletion within the mtDNA)

43
Q

Syndrome characterized by marrow failure and pancreatic insufficiency. The pancreas shows fatty metamorphosis with preservation of pancreatic islets.

A

Shwachman-Diamond Syndrome

SBDS gene

44
Q

Syndrome characterized by hypoplasia of the nasal alae, pancreatic exocrine insufficiency with pancreatic lipomatosis, hypothyroidism, and deafness.

A

Johnason-Blizzard syndrome

Boards.CP.Molecular (7 decks)

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