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MFM > Diseases > Flashcards

Diseases Flashcards

1
Q

mutation that causes alpha 1 antitrypsin deficiency

A

SERPINA1 gene - encodes alpha1 antitrypsin

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2
Q

what does alpha 1 antitrypsin do

A

inhibits elastase

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3
Q

consequences of deficient alpha1antitrypsin

A

elevated elastase which degrades elastin, leads to misfolding of protein in ER and activation of UPR

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4
Q

hallmark symptoms of alpha1 antitrypsin deficiency

A
  1. emphysema
  2. juvenile liver disease
  3. hepatocyte death
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5
Q

cause of alpha-amantin poisoning

A

eating death cap mushroom inhibits transcription in eukaryotes by binding to RNA polymerase II

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6
Q

hallmark symptoms of alpha amantin poisoning

A

GI symptoms followed by kidney/liver failure and death

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7
Q

cause of addison disease

A

autoimmune destruction of adrenal cortex

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8
Q

consequences of addison disease

A

underproduction of aldosterone, leads to increased loss of sodium and water

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9
Q

hallmark symptoms of addisons disease

A

severe hypotension

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10
Q

cause of adrenoleukodystrophy

A

mutations in ATP-binding cassette, subfamily D1 (ABCD1)

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11
Q

consequence/symptoms of arenoleukodystrophy

A

accumulation of VLCFAs due to defective peroxisomal beta oxidation

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12
Q

inheritance of adrenoleukodystrophy

A

autosomal or X linked, more common in males

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13
Q

cause of albinism

A

deficiency of tyrosine hydroxylase (copper dependent)

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14
Q

pathology of albinism

A

deficiency of melanin due to inability to convert tyrosine to DOPA and melanin in the melanocytes

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15
Q

when does albinism present?

A

infancy

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16
Q

hallmark of albinism

A

lack of pigment in skin, eye, sensitivity to light

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17
Q

cause of alcaptonuria

A

homogentisic acid oxidase deficiency causes buildup of homogentisate (during tyrosine/phenylalanine breakdown)

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18
Q

hallmark symptoms of alcaptonuria?

A
  1. dark urine
  2. oncronosis
  3. arthritis
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19
Q

cause of Andersen disease

A

glucosyl 4:6 transferase deficiency (branching enzyme) leads to buildup of glycogen with long outer branches (cannot break down) (glycogen storage disease)

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20
Q

hallmark symptoms of Andersen disease

A
  1. failure to thrive
  2. hepatosplenomegaly
  3. cirrhosis
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21
Q

prognosis of Andersen disease

A

usually fatal

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22
Q

cause of androgen-sensitivity syndrome

A

embryonic receptor malformation of androgen hormones - androgen receptors not working so even though has Y chromosome, develops as female bc no receptors

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23
Q

consequence of androgen sensitivity syndrome

A

female external genitalia is present and undescended testes producing normal amounts of testosterone

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24
Q

what causes ataxia telangiectasia?

A

mutation in ATM kinase leading to impaired DNA damage response. defective non-homologous end joining and homologous recombination repair

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25
Q

what are patients with ataxia telangiectasia at risk for?

A

double stranded breaks in DNA caused by radiation/UV

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26
Q

what causes atherosclerosis

A

increased VCAM (vascular cellular adhesion molecules) leading to increased “repair” mechanism in the RBC

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27
Q

what are VCAM

A

vascular cellular adhesion molecules that trigger repair mechanisms and recruit macrophages, which ingest LDL and then become foam cells

28
Q

what is bullous pemphigoid blistering skin disease?

A

antibody formation against dystonin (part of hemidesmosomes) (autoimmune)

29
Q

what is the consequence of bullous pemphigoid blistering skin disease?

A

epithelial sheets become disconnected from basal lamina

30
Q

what causes carnitine deficiency?

A
  1. ineffective carnitine transporter in the plasma membrane

2. metabolic disorders, organic acidemias, or preterm newborns

31
Q

when does carnitine deficiency present

A

1mo to 7yo

32
Q

hallmark symptoms of carnitine deficiency

A
  1. hypoketotic hypoglycemia (gluconeogenesis cannot be supported by fat oxidation) (can’t make acetyl coa to make ketone bodies)
  2. skeletal myopathies
  3. cardiomyopathies
  4. encephalopathy
  5. hepatomegaly (FA gathering)
33
Q

what causes congenital adrenal hyperplasia caused by?

A

inherited partial or total deficiency of enzymes 21-alpha-hydroxylase or 11-beta1-hydroxylase

34
Q

symptoms of 21-alpha-hydroxylase deficiency

A

mineralocorticoids and glucocorticoids are absent or deficient (no aldosterone or cortisol)

  1. lack of aldosterone leads to salt wasting, low blood volume and hypotension
  2. lack of cortisol leads to increased ACTH, hyperplasia of adrenal cortex, elevated androgens, masculinization of external genitalia in females and early virilization in males
35
Q

symptoms of 11-beta1-hydroxylase defficiency

A
  1. lack of aldosterone and cortisol
  2. buildup of 11-deoxycorticosterone d/t overstimulation of adrenal cortex d/t ACTH
  3. 11-deoxycortisosterone acts like aldosterone, increasing Na reuptake and fluid retension, leading to hypertension
  4. lack of cortisol increases ACTH, increasing weak androgens, early virilization of males and masculinization of females
36
Q

what is Conn syndrome

A

hyperplasia or tumors in the adrenal cortex

37
Q

what does Conn syndrome cause

A

excess aldosterone production, Na reuptake, increase in blood volume = severe hypertension

38
Q

what is Cori disease

A

debranching enzyme deficiency (glycogen)

39
Q

effects of Cori disease

A

glycogen deposits with short outer branches accumulate in liver, heart, skeletal muscle

40
Q

hallmark symptoms of Cori disease

A
  1. fasting hypoglycemia
  2. hepatomegaly in infancy
  3. some myopathic features
  4. accumulation of glycogen with short outer branches
41
Q

what is CPT I deficiency

A

autosomal recessive defect in CPT I gene, cannot bring FA across outer mitochondrial membrane – primarily affects FA oxidation in the liver

42
Q

what is CPT II deficiency

A

defect in CPTII gene, cannot reform fatty acyl CoA or release carnitine, fatty acylcarnitine builds up, no beta oxidation

43
Q

when does CPT I deficiency onset?

A

early in life, usually after periods of fasting of GI illness

44
Q

symptoms of CPTI deficiency?

A
  1. hypoglycemia
  2. hypoketosis
  3. lethargy
  4. seizures
  5. coma
    * see sx mostly in liver*
45
Q

symptoms of CPTII deficiency, myopathic form

A
  1. recurrent episodic myalgia and muscle stiffness
  2. rhabdomyolysis (increased CK)
  3. myoglobinuria
46
Q

what exacerbates CPTII deficiency

A
  1. prolonged exercise
  2. stress
  3. infections
  4. fasting/high fat, low carb diet bc can’t utilize FA
    * not in the liver, so no hypoketotic hypoglycemia*
47
Q

what is cushing’s syndrome

A

tumors of adrenal cortex or pituitary causing excess cortisol production or excess ACTH

48
Q

hallmark symptoms of cushing’s syndrome?

A
  1. weight gain in trunk
  2. moon face
  3. buffalo hump
  4. excess sweating
  5. male pattern hair growth in females
  6. infertility
  7. cessation of menses
  8. depression, anxiety, psychosis
49
Q

what causes cystic fibrosis?

A

mutation in CFTR (cystic fibrosis transmembrane conductance regulator) - an ATP binding cassette enzyme

50
Q

what does CFTR do and what occurs if it is messed up?

A

transports Cl and HCO3 out of cell, so mutation in CFTR causes an inability to regulate cell ion concentrations

51
Q

what is cystinuria?

A

faulty amino acid transporter in the proximal tubules, cannot bring cystine, homocystine, lysine, ornithine, or arginine into the cell (with Na)

52
Q

what does cystinuria lead to?

A

since these AA cannot be reabsorbed back into the blood, they accumulate in the kidney as kidney stones.

53
Q

what would you see clinically in cystinuria?

A

kidney stones with high amounts of lysine, ornithine, arginine

54
Q

type I diabetes cause

A

autoimmune destruction of beta cells, no insulin production

55
Q

type II diabetes cause

A

insulin resistance due to obesity/lifestyle

56
Q

basic MOA of diabetes

A

glucose cannot properly enter muscle and fat so is overproduced by the liver and underutilized by other tissues. increased glucose in blood

57
Q

what causes DKA?

A

low insulin causes reduced supply of cellular glucose with a concomittant increase in fatty acid oxidation due to high glucagon. increased acetyl coa leads to increased ketone body formation and ketone body production exceeds ability of peripheral tissues to oxidize

58
Q

symptoms of DKA?

A
  1. fruity breath
  2. ketonuria
  3. extreme thirst
  4. frequent urination
  5. extreme weight loss
  6. lethargy
  7. agitation, irritation, aggression, confusion
  8. muscle wasting
  9. vomiting and abd pain
  10. low blood pH d/t ketoacids
  11. unconsciousness/coma
  12. impairs ability of hemoglobin to bind to oxygen (d/t pH)
59
Q

what causes dicarboxylic acidemia?

A

CPT or MCAD deficiencies or other peroxisomal disorders – essentially impairment of fatty acid uptake or beta oxidation

60
Q

what occurs if FA uptake or beta oxidation is impaired?

A

w-oxidation is stimulated, leading to excess dicarboxylic acid (DCA) in the urine (dicarboxylic acidemia)

61
Q

what causes dissacharidease deficiency?

A

genetic or physiological (age, injuries to intestinal mucosa) deficiency in enzymes needed for disaccharide breakdown (like lactase)

62
Q

symptoms of disaccharidease deficiency

A

disaccharides not broken down to monosaccharides, cannot be absorbed, causes watery diarrhea after meal

63
Q

mutation of ehlers-danlos syndrome type VI

A

mutation in gene encoding lysyl hydroxylase, which hydroxylates proline and lysine residues on alpha chain of collagen = collagen not made well

64
Q

effects of ehlers danlos

A

lysyl hydroxylase doesnt fold properly, causing unfolded protein response in ER. upregulates TF for chaperone proteins. if UPR continues, apoptosis occurs

65
Q

symptoms of ehlers-danlos

A

stretchy skin, hypermobile joints, leaky heart valves, blood vessels easily ruptured

66
Q

what causes ehlers danlos types 1-IV?

A

mutations in collagen

MFM (39 decks)

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