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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
what are patients with ataxia telangiectasia at risk for?
double stranded breaks in DNA caused by radiation/UV
26
what causes atherosclerosis
increased VCAM (vascular cellular adhesion molecules) leading to increased "repair" mechanism in the RBC
27
what are VCAM
vascular cellular adhesion molecules that trigger repair mechanisms and recruit macrophages, which ingest LDL and then become foam cells
28
what is bullous pemphigoid blistering skin disease?
antibody formation against dystonin (part of hemidesmosomes) (autoimmune)
29
what is the consequence of bullous pemphigoid blistering skin disease?
epithelial sheets become disconnected from basal lamina
30
what causes carnitine deficiency?
1. ineffective carnitine transporter in the plasma membrane | 2. metabolic disorders, organic acidemias, or preterm newborns
31
when does carnitine deficiency present
1mo to 7yo
32
hallmark symptoms of carnitine deficiency
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
what causes congenital adrenal hyperplasia caused by?
inherited partial or total deficiency of enzymes 21-alpha-hydroxylase or 11-beta1-hydroxylase
34
symptoms of 21-alpha-hydroxylase deficiency
mineralocorticoids and glucocorticoids are absent or deficient (no aldosterone or cortisol) 2. lack of aldosterone leads to salt wasting, low blood volume and hypotension 3. 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
symptoms of 11-beta1-hydroxylase defficiency
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
what is Conn syndrome
hyperplasia or tumors in the adrenal cortex
37
what does Conn syndrome cause
excess aldosterone production, Na reuptake, increase in blood volume = severe hypertension
38
what is Cori disease
debranching enzyme deficiency (glycogen)
39
effects of Cori disease
glycogen deposits with short outer branches accumulate in liver, heart, skeletal muscle
40
hallmark symptoms of Cori disease
1. fasting hypoglycemia 2. hepatomegaly in infancy 3. some myopathic features 4. accumulation of glycogen with short outer branches
41
what is CPT I deficiency
autosomal recessive defect in CPT I gene, cannot bring FA across outer mitochondrial membrane -- primarily affects FA oxidation in the liver
42
what is CPT II deficiency
defect in CPTII gene, cannot reform fatty acyl CoA or release carnitine, fatty acylcarnitine builds up, no beta oxidation
43
when does CPT I deficiency onset?
early in life, usually after periods of fasting of GI illness
44
symptoms of CPTI deficiency?
1. hypoglycemia 2. hypoketosis 3. lethargy 4. seizures 5. coma * see sx mostly in liver*
45
symptoms of CPTII deficiency, myopathic form
1. recurrent episodic myalgia and muscle stiffness 2. rhabdomyolysis (increased CK) 3. myoglobinuria
46
what exacerbates CPTII deficiency
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
what is cushing's syndrome
tumors of adrenal cortex or pituitary causing excess cortisol production or excess ACTH
48
hallmark symptoms of cushing's syndrome?
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
what causes cystic fibrosis?
mutation in CFTR (cystic fibrosis transmembrane conductance regulator) - an ATP binding cassette enzyme
50
what does CFTR do and what occurs if it is messed up?
transports Cl and HCO3 out of cell, so mutation in CFTR causes an inability to regulate cell ion concentrations
51
what is cystinuria?
faulty amino acid transporter in the proximal tubules, cannot bring cystine, homocystine, lysine, ornithine, or arginine into the cell (with Na)
52
what does cystinuria lead to?
since these AA cannot be reabsorbed back into the blood, they accumulate in the kidney as kidney stones.
53
what would you see clinically in cystinuria?
kidney stones with high amounts of lysine, ornithine, arginine
54
type I diabetes cause
autoimmune destruction of beta cells, no insulin production
55
type II diabetes cause
insulin resistance due to obesity/lifestyle
56
basic MOA of diabetes
glucose cannot properly enter muscle and fat so is overproduced by the liver and underutilized by other tissues. increased glucose in blood
57
what causes DKA?
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
symptoms of DKA?
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
what causes dicarboxylic acidemia?
CPT or MCAD deficiencies or other peroxisomal disorders -- essentially impairment of fatty acid uptake or beta oxidation
60
what occurs if FA uptake or beta oxidation is impaired?
w-oxidation is stimulated, leading to excess dicarboxylic acid (DCA) in the urine (dicarboxylic acidemia)
61
what causes dissacharidease deficiency?
genetic or physiological (age, injuries to intestinal mucosa) deficiency in enzymes needed for disaccharide breakdown (like lactase)
62
symptoms of disaccharidease deficiency
disaccharides not broken down to monosaccharides, cannot be absorbed, causes watery diarrhea after meal
63
mutation of ehlers-danlos syndrome type VI
mutation in gene encoding lysyl hydroxylase, which hydroxylates proline and lysine residues on alpha chain of collagen = collagen not made well
64
effects of ehlers danlos
lysyl hydroxylase doesnt fold properly, causing unfolded protein response in ER. upregulates TF for chaperone proteins. if UPR continues, apoptosis occurs
65
symptoms of ehlers-danlos
stretchy skin, hypermobile joints, leaky heart valves, blood vessels easily ruptured
66
what causes ehlers danlos types 1-IV?
mutations in collagen

MFM (39 decks)

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