Diseases and Disorders Exam 6 Flashcards
(47 cards)
1
Q
Beriberi
A
- Thiamine (B1) deficiency
- can be dry or wet
- characterized by dry skin, irritability, disordered thinking, forgetfulness, paralysis
- most common in alcoholics
2
Q
Wernicke-Karsokoff
A
- thiamine deficiency d/t alcohol consumption
- decreased activity of PDH and alpha-KG DH
- sx: mental derangement, memory loss, ataxia
- tx: thiamine injections
3
Q
Pellagra
A
- Niacin (B3) deficiency
- reduced NAD and NADP
- sx: rough skin
- 4D disease: dermatitis, diarrhea, dementia, death
4
Q
Sideroblastic anemia
A
- vitamin B6 deficiency (PLP)
- microcytic, hypochromic anemia with normal Fe levels
- other sx of B6 deficiency: glossitis, psychiatric sx, seizures (d/t low GABA)
5
Q
Biotinase Deficiency
A
- causes a biotin (B7) deficiency
- sx: dermatitis, alopecia, glossitis, loss of appetite, nausea
6
Q
Pernicious anemia
A
- vitamin B12 deficiency
- neurological sx (b/c lack of myelin)
- megaloblastic anemia
7
Q
Copper Deficiency
A
- sx: microcytic hypochromic anemia, hemorrhagic vascular changes, bone demineralization, neurologic problems
8
Q
Menke’s Disease
A
- deficiency of ATP-dependent membrane Cu- transporter in the intestine
low Cu levels
9
Q
Wilson Disease
A
- mutation in Cu transporter in the kidney which decreases excretion and increases Cu levels
- sx: liver damage, neurological and hematological complications
10
Q
Vitamin A deficiency
A
- causes vision problems
- can cause metaplasia of corneal epithelium where epithelial cells are transformed to keratinized squamous epithelia
11
Q
Vitamin K deficiency
A
- Vit K responsible for carboxylation of glutamic acid which creates Ca binding sites on blood clotting factors
- deficiency leads to easy bruising, increased prothrombin time
- associated with fat malabsorption, long-term antibiotic use, breast feeding
12
Q
5-Flourouracil
A
inhibits thymidylate synthase, causes thymine less death
13
Q
Methotrexate
A
folate analog that competitively inhibits DHFR and leads to thymine less death
14
Q
Hyperhomocysteinemia
A
- can be caused by lack of folate, B12 or B6
- increased risk of cardiovascular events
- oxidizing agent that inactivates NO and alters coagulation
15
Q
Gout
A
- increase in uric acid
- can be caused by a gain of function mutation in PRPP synthetase, leading to an increase in purine synthesis and therefore an increase in purine breakdown
- tx: allopurinol which is an inhibitor of xanthine oxidase. Works bc xanthine is easier to excrete
16
Q
Lesch-Nyhan Syndrome
A
- mutation in HGPRT
- causes an increase in PRPP levels bc not being used in salvage pathway which increases purine de novo synthesis and therefore breakdown causing an increase in uric acid levels
- sx: intellectual disability and self mutilation
17
Q
ADA Deficiency
A
- deficiency in adenosine deaminase which leads to an accumulation of adenosine
- excess adenosine is converted to AMP by adenosine kinase
- increased AMP increases dATP which inhibits RR consequently decreased dGTP
- affects fast dividing cells -> SCID
18
Q
Orotic Aciduria (UMP-Synthase deficiency)
A
- impaired pyrimidine synthesis pathway
- sx: poor growth, megaloblastic anemia
- increased orotate
- normal BUN and ammonia
19
Q
Iron Deficiency
A
- causes microcytic, hypochromic anemia
- lack of iron causes Zn to be inserted instead
- ZnPP is a clinical indicator
20
Q
Lead Poisoning
A
- Lead is an inhibitor of ALA dehydrogenase and ferrochelate which decreases heme production
- lead does not get inserted into PP IX
- anemia
- delta-ALA and PP IX accumulate in the urine and blood -> look for this to diagnose
21
Q
Acute Intermittent Porphyria (AIP)
A
- deficiency of uroporphyrinogen I synthase
- function most significantly decreased in the liver
- ALA and porphobilinogen accumulate in the blood and CSF
- sx often misdiagnosed as psychosomatic and the drugs pts are put on induce cytochrome p450 which binds up heme and exacerbates patients sx.
Tx: hematin (stable form of heme) and high carb diet
22
Q
Porphyria cutanea tarda
A
- deficiency of uroporphyringen decarboxylase
- usually seen in alcoholics
- worse with iron overloading (causes iron overloading?)
- can’t go out in sunlight
23
Q
Prehepatic (hemolytic) jaundice
A
- increase in bilirubin in blood bc RBC burst
- increase in conjugated and unconjugated in blood
- low plasma hapatoglobin bc excess heme binds to it
24
Q
Intrahepatic jaundice
A
- impaired liver function
- increase in unconjugated, decrease in conjugated
- pale stools
- increased AST and ALT
25
Gilbert's Syndrome
- defective UDP-glucuronyl transferase
- leads to occasional jaundice (intrahepatic)
- onset in 20's
- tx: phenobarbital to stimulate enzyme
26
Posthepatic jaundice
- obstruction after liver
- increase in conjugated
- dark urine, pale stool
- can lead to liver damage and consequently an increase in unconjugated as well
27
Neonatal jaundice
- babies have late onset of glucouronyl transferase and also a delay in adult Hb replacing fetal Hb which can lead to a back up of unconjugated bilirubin
28
Kernicterus
- unconjugated bilirubin is toxic to babies and can cross blood-brain barrier
- leads to mental retardation
- tx: put baby under a blue light which converts bilirubin to a more soluble form
29
Hereditary Hemochromatosis
- excess iron in cells
- mutation in HFE gene
- normally HFE binds to the transferrin receptor and reduces its affinity to decrease amount of iron brought in
- not functional in HH -> increased iron absorption
- Hemosiderin deposits seen in the liver, pancreas, skin and joints
- sometimes shows up after menopause
30
Grave's Disease
- autoimmune: IgG binds to TSH receptors and causes excessive T3/T4 production
- decreased TSH in blood
- sx: weight loss, tachycardia, increased BMR
- Tx: corticosteroids to inhibit deiodinase and prevent conversion of T4 to T3
31
Parkinson's
- loss of dopaminergic neurons in the substantia nigra
- sx: tremor, gait problems, rigidity, bradykinesia
- lewy bodies seen in microscope
32
Albinism
- mutations in tyrosine hydroxylase or other enzymes in melanin pathway
33
Pheochromocytoma
- NE/Epi secreting tumor
| - look for elevated VMA in blood
34
Tyramine Poisoning
- MAO usually breaks down tyramine, so when on MAO inhibitors tyramine can build up
- worse when eating tryramine containing foods
- increased tyramine increases NE which raises BP
35
Obesity
- mutation in MC4-R receptor can interrupt leptin signaling
| - pt will never feel full and get fat
36
Kwashiorkor
- inadequate intake of protein with adequate energy intake
- pt's have edema bc of decreased plasma proteins
- also stunted growth, brittle hair, diarrhea, dermatitis, fatty liver
37
Marasmus
- inadequate intake of protein and energy
| - thin wasted appearance
38
Sarcopenia
- muscle wasting
- d/t aging or inactivity
- tx: good exercise and diet
39
Cystinuria
- problem with transporter in kidney and cystine cannot get reabsorbed so its peed out
- cystine not very soluble and can cause stones
- lysine, ornithine and arginine also use the same transporter so can see if these are elevated in urine too
40
Maple Syrup Urine
- accumulation of branched-alpha ketoacids in blood and urine d/t deficiency of alpha-ketoacid DH
- from breakdown of leucine, isoleucine and valine
- sx: mental retardation, abnormal muscle tone, ketosis, coma, death
41
PKU
- deficiency of phenylalanine hydroxylase (which requires BH4)
- build up of phenylacetate and phenyllactate bc Phe not being converted to Tyr
- sx: mental retardation, microcephaly, musty urine
- tx: diet and avoid aspartane
42
Alcapronuria
- deficiency of homogentisate oxidase so cant break down tyrosine into fumarate and acetoacetate
- sx: dark urine, dark joints, arthritis
43
Homocysteinuria
- can be a deficiency of homocystein methyltransferase (B12 and folate), cystathione synthase (PLP) or cystathione lyase (PLP)
- look for methylmalonic aciduria to diagnose a B12 deficiency
- sx: dislocated lens, DVT, stroke, athrosclerosis, mental retardation
44
Hyperammonemia I
- deficiency of CPS I
- increase in ammonia, decrease in BUN
- NO increase in uracil and orotic acid in blood and urine
45
Hyperammonemia II
- deficiency of ornithine transcarbamoylase
- increase in ammonia, decrease in BUN
- increase in uracil and orotic acid in blood and urine
- pyrimidine synthesis stimulated
46
Hydroxyurea
- inhibitor of ribonucleotide reductase
| - tx for CML
47
GLP-1 agonists and DPP-4 inhibitors are used to treat what and how do they work?
- type 2 DM
- agonists stimulate insulin secretion
- inhibitors prevent degradation of GLP-1 and therefore promote insulin secretion
