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Survey of Human Genetic Disorders Second Half > Adult-onset Disorders > Flashcards

Adult-onset Disorders Flashcards

1
Q

What is the genetic cause of Alpha 1 Antitrypsin deficiency?

A

Codominant
SERPINA1 gene (AAT protein)

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2
Q

What are the clinical features of Alpha 1 Antitrypsin deficiency?

A

Emphysema (Chronic Obstructive Pulmonary Dz
COPD)
Liver disease at any age
Neonatal cholestasis
Vasculitis
Necrotizing panniculitis

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3
Q

What is the age of onset of Alpha 1 Antitrypsin deficiency?

A

40-50y if smoker
60’s if not

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4
Q

What is the PI*M allele in Alpha 1 Antitrypsin deficiency?

A

Normal allele

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5
Q

What is the PI*Z allele in Alpha 1 Antitrypsin deficiency?

A

Most common pathogenic allele

Homozygotes have severe disease

Most common: p.Glu342Lys

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6
Q

What is the PI*S allele in Alpha 1 Antitrypsin deficiency?

A

A pathogenic allele causing functionally deficient AAT

Usually only of clinical consequence when in combination with PIZ (PISZ)

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7
Q

What is the main function of the AAT protein?

A

Protection of the lung from proteolytic damage by inhibiting neutrophil elastase

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8
Q

What is the variant in SERPINA1 that is present in almost 95% of cases?

A

p.Glu342Lys

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9
Q

What is the management of Alpha 1 Antitrypsin deficiency?

A

Immunizations (Hep A, B, influenza, Pneumo, COVID)
Smoking cessation
COPD with standard therapy
Organ transplant
Pulmonary rehab
Augmentation therapy–IV of pooled human serum AAT in emphysema

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10
Q

What are the presenting features in Alpha 1 Antitrypsin deficiency?

A
  1. Neonatal jaundice (17%)
  2. Young adult smoke or older adult smoker with lower lobe emphysema
  3. Cryptogenic liver disease
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11
Q

What are the lab findings in POI?

A

Elevated FSH
Low estradiol levels
Amenorrhea for 3 to 4 months

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12
Q

What is the genetic cause of hemochromatosis?

A

HFE gene
(AR)

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13
Q

What is the prevalence of the p.Cys282Tyr (C282Y) HFE variant in non-Hispanic whites?

A

1:200 to 1:400

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14
Q

Why do all HFE homozygotes not develop hemochromatosis?

A

Low Penetrance

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15
Q

What is are the clinical signs of HFE hemochromatosis?

A

Inappropriately high iron absorption by the GI mucosa leads to excessive iron storage in the liver, skin, pancreas, heart, joints, and testes

Early Sx: abdominal pain, weakness, lethargy, and weight loss

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16
Q

What is the genetic cause of Wilson disease?

A

ATP7B gene (AR)

17
Q

What are the clinical features of Wilson disease?

A

Age onset: 3-50 years
Liver disease–jaundice, hepatitis
Neurological: movement disorder, disorganization of personality

Kayser Fleisher Ring

18
Q

What are the labs in Wilson disease?

A

Low serum copper
Low ceruloplasmin
Increased urinary copper excretion
Liver bx: increase copper storage

19
Q

What is the treatment of Wilson disease?

A

Diet
Chelating agents
Liver transplant

20
Q

What percentage of AD patients don’t have an APOE e4 allele?

A

42%

21
Q

What is the risk of a sibling of a proband with AD (with limited family hx)?

A

20-25%

22
Q

What is the general population risk for AD?

A

10-15%

23
Q

What are the symptoms of Parkinson disease?

A

Tremor
Rigidity
Shallow, shuffling gait
Nonmotor symptoms: poor sleep, dementia, psychosis

24
Q

What is the age of onset of PD?

A

Juvenile: <20 years
Early onset: 20-50 years
Late onset: >50 years

25
Q

What percentage of PD patients have family history?

A

15%

26
Q

What is the lifetime risk for late-onset PD?

A

4%

27
Q

What are the genes associated with PD?

A

GBA (AD): more common in AJ
Parkin (AR): early onset
PINK1 (AR): early onset
LRRK2 (AD): African Berber

28
Q

What is Thrombophilia?

A

Predisposition to develop blood clots
Deep vein thrombosis
Pulmonary embolus

29
Q

What are some of the thrombophilia disorders?

A

Factor V Leiden
Prothrombin
(MTHFR)
Protein C, Protein S, Antithrombin III

Survey of Human Genetic Disorders Second Half (10 decks)

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