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USMLE 1 > Enzyme and Immunodeficiencies > Flashcards

Enzyme and Immunodeficiencies Flashcards

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USMLE® Step 1 flashcards
0
Q

X-linked immunodeficiencies

A
  • Wiskott-Aldrich Syndrome
  • Bruton’s Agammaglobulinemia
  • Chronic Granulomatous disease
  • Hyper IgM syndrome (no CD ligand)
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1
Q

Adenosine Deaminase deficiency

A

SCID

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2
Q

Absent HGPRT

A

Lesch-Nyhan syndrome

  • defective purine salvage
  • X-linked recessive
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3
Q

Defective nucleotide excision repair leads to what disorder

A

Xeroderma pigmentosum

  • can’t repair pyrimidine dimers
  • ssDNA repair failure
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4
Q

What DNA repair mechanism is defective in Hereditary non polyposis colorectal cancer

A

Mismatch repair

-failure to recognize and remove mismatched nucleotides in newly synthesized DNA strand

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5
Q

What DNA repair mechanism is defective in Ataxia Telangiectasia

A

Nonhomologous end joining

-failure to bring ends of DNA fragments together to repair double stranded breaks

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6
Q

Anti-Smith antibodies

A

Antibodies to spliceosomal snRPs

-SLE

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7
Q

Anti-U1 RNP antibodies

A

Mixed connective tissue disease

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8
Q

Defect in phosphotransferase

A

I-cell disease: inclusion cell disease
-inherited lysosomal storage disorder d/t failure of Golgi to phosphorylate mannose residues (decr. M6P) so can’t traffic proteins to lysosomes so they get secreted extraceullarly

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9
Q

The clinical features of I cell disease are similar to what?

A

Mucopolysaccharidoses

-Hunters, Hurlers

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10
Q

Coarse facial features, clouded corneas, restricted joint movement, high plasma levels of lysosomal enzymes, mental retardation may be present

A

I cell disease

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11
Q

Pathogenic states with Cytoplasmic inclusions

A
  • Lysosomal storage disease
  • I-cell disease
  • Mucopolysaccharidoses
  • Chediak-Higashi syndrome
  • Alzheimer’s disease
  • Parkinson’s disease
  • CMV
  • Rabies virus
  • Herpes virus
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12
Q

Defective a-chain of IV collagen

A

Alport syndrome

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13
Q

Lack of hydroxylation of proline and lysine residues of pre-procollagen

A

Scurvy d/t Vitamin C deficiency

-Vitamin C is necessary for hydroxylation

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14
Q

Deficient formation of procollagen

A

Osteogenesis imperfecta

  • deficient formation of triple helix of procollagen
  • decr. production of normal type I collagen
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15
Q

Defective formation of collagen fibrils d/t inability to form cross-linkages (lysine-hydroxylysine)

A

Ehlers-Danlos

16
Q

Decr. activity of lysyl oxidase is caused by

A

Impaired copper absorption and transport
-Menkes disease: brittle, kinky hair, growth retardation, hypotonia; d/t deficient formation of lysine-hydroxylysine cross linkages

17
Q

Autosomal dominant diseases

A
  • ADPKD
  • FAP
  • Familial hypercholesterolemia
  • Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
  • Hereditary spherocytosis
  • Huntington disease
  • Marfan syndrome
  • MEN
  • NF-1 (von Recklinghausen disease)
  • NF-2
  • Tuberous sclerosis
  • vHL
18
Q

Autosomal Recessive diseases

A
  • Albinism
  • ARPKD
  • Cystic fibrosis
  • Glycogen storage diseases
  • Hemochromatosis
  • Kartagener syndrome
  • Mucopolysaccharidoses (except Hunter syndrome)
  • PKU
  • Sickle cell anemia
  • Sphingolipidoses (except Fabry disease)
  • Thalassemias
  • Wilson’s disease
19
Q

X-linked recessive disorders

A
  • Bruton agammaglobulinemia
  • Wiskott-Aldrich syndrome
  • Fabry Disease
  • G6PD deficiency
  • Ocular albinism
  • Lesch-Nyhan syndrome
  • Duchenne and Becker Muscular dystrophies
  • Hunter Syndrome
  • Hemophilia A and B
  • Ornithine transcarbamylase deficiency
20
Q

Trinucleotide repeat expansion diseases

A
  • Huntington disease (CAG)
  • Myotonic dystrophy (CTG in DMPK gene)
  • Friedreich ataxia (GAA)
  • Fragile X syndrome (CGG in FMR1 gene)
21
Q

Autosomal Trisomies

A
  • Down syndrome (trisomy 21)
  • Edwards syndrome (trisomy 18)
  • Patau syndrome (trisomy 13)
22
Q

Prader-Willi Syndrome

A

Maternal imprinting: Paternal gene is deleted/mutated and maternal gene is silent; PATERNAL gene problem
-hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

23
Q

Angelman Syndrome

A

Paternal imprinting: Maternal gene is deleted/ mutated and paternal gene is silent; MATERNAL gene problem
-inappropriate laughter, seizures, ataxia, severe intellectual disability

24
Q

If a patient is manifesting an autosomal recessive disorder but only one parent is a carrier, consider what genetic abnormality

A

Uniparental disomy

-offspring receives 2 chromosomes from one parents and none from the other

25
Q

Inherited disorder that leads to incr. phosphate wasting at proximal tubule

A 
Hypophosphatemic rickets (rickets-like presentation)
-X-linked dominant; (Vit. D-resistant rickets
26
Q

Mitochondrial myopathies

A

myopathy, lactic acidosis, CNS disease secondary to failure in oxidative phsophorylation
-ragged red fibers seen on muscle biopsy

27
Q

Quad screen for Down Syndrome

A

decr. AFP and estriol

incr. B-hCG and inhibin A

28
Q

Quad screen for Edwards syndrome

A

decr. AFP, estriol, B-hCG

decr. or normal inhibin A

USMLE 1 (13 decks)

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