Easily forgettable diseases Flashcards
1
Q
Hartnup disease
A
Auto recessive
deficiency in neutral a.a. transporters in proximal tubule and on enterocytes.
Neutral aminoaciduria (tryptophan) –> niacin deficiency
Pellagra-like symptoms (dementia, diarrhea, dermatitis)
2
Q
Osler-Weber-Rendu syndrome
A
Aka hereditary hemorrhagic telangiectasia
auto dom
disorder of BV leading to telangiectasia, reccurent nose bleeds (epistaxis), skin discolration, AV molformations, GI bleeding, hematuria
3
Q
Von recklinghausen’s disease AKA
A
NF1
4
Q
tuberous sclerosis
A
neurocutaneous disorder with multi-organ system involvement. Numerous benign hamartomas. angiofibromas visceral cysts cutaneous angiofibromas auto dom ash leaf spots rhabdomyomas shagreen patches
5
Q
Sturge-Weber syndrome
A
non inherited
congenital
anomaly of neural crest derivatives due to mutation in GNAQ gene. Affects small BV -> port wine stain on face. Ipsilateral leptomeningeal angioma
seizures, epilepsy
intellectual disability
episcleral hemangioma -> increased intraocular pressure -> early onset glaucoma
skull - tram track calcifications
6
Q
Plummer-Vinson syndrome
A
triad of iron deficiency anemia, esophageal webs, and atrophic glossitis
(webs cause dysphagia, which is often seen in iron deficiency anemia)
7
Q
issue with scurvy
A
no vitamin c to hydroxylate lysine and proline on collagen
8
Q
Problem with osteogenesis imperfecta
A
problem with forming the triple helix of collagen during the glycosylation step
9
Q
problem with ehlers danlos syndrome
A
problems with cross linking of collagen outside of the fibroblasts
10
Q
menkes disease
A
connective tissue disease
impaired copper absorption and transport
decreased activity of lysyl oxidase (which needs Cu) for collagen synthesis
brittle, kinky hair, growth retardation, hypotonia
11
Q
defect in marfan
A
defect in fibrillin which forms a sheath around elastin
12
Q
Signs of Prader willi
A
hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia
13
Q
signs of angelman syndrome
A
inappropriate laughter, seizures, ataxia, intellectual disability
14
Q
gene mutation in familial adenomatous polyposis
auto rec or dom?
A
APC gene
auto dom
15
Q
hungtington disease - repeat? chromosome number?
A
CAG, chrom 4
16
Q
CHromosome number for FAP
A
chromosome 5
17
Q
gene association with MEN2A and B
A
Ret
18
Q
NF1 chromosome and symptoms
A
Chrom 17
cafe au lait spots, cutaneous neurofibroms (schwann cells, neural crest)
Auto dom
19
Q
NF2, chrom # and symtpoms
A
Chrom 22
bilateral acoustic schwannomas, juvenile cataracts, meningiomas, ependymomas
20
Q
tuberous sclerosis, inheritance and symptoms
A
auto dom
hamartomas
21
Q
what happens with the mutated protein of CF
A
misfolded protein due to impaired post translational processing –> protein retained in RER, not transported to cell membrane. May got to proteasome
22
Q
TYpe of mutation for duchenne
A
x linked recessive, frameshift mutation of dystrophin protein
23
Q
type of mutation for becker muscular dystrophy
A
x linked recesssive, point mutation in dystrophin.
24
Q
repeat for mytonic type I MD. SYmptoms and characteristics
A
CTG
expansion of DMPK gene -> abnormal expression of myotonin protein kinase –> myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmia
25
Fragile x
| mutation, symptoms
CGG repeat of FMR1 gene, x linked
| post pubertal macroorchidism, long face with large jaw, large everted ears, autism, MVP
26
Cri-du-chat
microdeletion of short arm of chrom 5
| microcephaly, intellectual disability, high pitched crying, epicanthal folds, cardiac abnormalities (VSD)
27
Williams syndrome
```
Microdeletion of long arm chrom 7
elfin facies, intellectual disability, hypercalcemia
well developed verbal skills
extreme friendliness with strangers
CV problems
```
28
22q11 deletion
```
catch -22
Cleft palate
abnormal facies
thymic aplasia
cardiac defects
hypocalcemia (parathyroid aplasia)
```
seen with Digeorge
29
CHronic granulomatous disesase enzyme
NADPH oxidase (converts O2 to superoxide)
30
what are people with CGD more susceptible to?
Bacteria with catalase. Patients can still make H2O2 to destory bacteria, unless the bacteria have catalase which can destory H2O2
31
most common human enzyme deficiency
G6PD
32
what types of cells are seen in G6PD deficiency
bite cells (phagolytic removal of heinz bodies by splenic macrophages)
33
how are heinz bodies produced
G6PD deficiency -> increased hemolysis and ROS damage --> oxidized Hb in RBCs
34
essential fructokinase
not as bad as fructose intolerance. Defect in fructokinase -> no conversion of fructose to frucose1P.
Auto recessive
benign, increased fructose in urine and blood
35
frucotse intolerance
no aldolase B -> no conversion of fructose 1P to downstream molecules.
Increased fructose 1p -> wasted phosphates -> less available for gluconeogenesis and glycogenolysis.
hypoglycemia, jaundice
36
what substance need decreased intake in frucotse intolereance
fructose and sucrose (frucoste + glucose)
37
subunits of lactose
galactose + glucose
38
subunits of maltose
2 glucose molecules
39
galactokinase deficiency
```
no conversion of galactose to galctose 1P. Increased levels of galactitol (by aldose reductase).
fairly benign
infantile cataracts (no social smile or tracking of objects)
```
40
Classic galactosemia
No galactose 1 phosphage uridyltransferase. No conversion of galactose1p to glucose 1 p.
Accumulation of galactitiol -> cataracts
FTT, jaundice, hepatospleno, intellectual disability.
Increased waste of phosphate -> no gluconeogenesis or glycogenolysis
41
treatment for classic galactosemia
decreased galactose and lactose (galactose + glucose) from diet
42
Hyperammonemia causes what with the energy cycles?
Increased NH4 leadsto depletion of alpha-ketoglutarate -> inhibition of TCA cycle
43
Required cofactor for CPSI of the urea cycle
N-acetylglutamate
44
Ornithine transcarbamylase deficiency
Urea cycle enzyme.
X linked recessive
can't eliminate NH3
carbamoyl gets converted to orotic acid instead of citruiline. Orotic acid part of pyrimidine synthesis pathway.
Increased orotic acid in blood and urine. Decreased BUN, increased NH3
45
orotic aciduria
```
inability to convert orotic acid to UMP (pyrimidine synthesis pathway) due to defect in UMP synthase.
autosomal recessive
megaloblastic anemia
No hyperammonemia (unlike OTC deficiency)
```
46
Phenylketonuria
decreased phenylalanine hydroxylase (phenyl -> tyrosine) or due to decreased tetrahydrobiopterin cofactor.
intell. disability, growth retard, seizures, fair skin, eczema, musty body odor.
47
what compound must PKU patients avoid
aspartame, artificial sweetener
48
alkpatonuria
deficiency in homogentisate oxidase (tyrosine --> homogentisic acid -> maleylacetoacetic acid.
Increased homogentisic acid.
dark connective tissues, brown sclera, black urine
arthralgias
49
three ways to get homocystinuria
1. cystathionine synthase deficiency (homocysteine -> cystationine --> cysteine)
2. Decreased affinity of the synthase for B6
3. Homocysteine methyltransferase deficiency (homocysteine --> methionine)
50
symptoms of homocytinuria
```
intellectual disability
osteoporosis
tall stature
kyphoisis
lens subluxation
thrombosis, atheroslcerosis
```
51
Cystinuria
defect in renal PCT and intestinal amino acid transporter for COLA (cysteine, ornithine, lysine, arginine)
excess cysteine in urine -> hexagonal cysine stones.
52
treatment of cystinuria
urinary alkalinization (azetazolamide)
chelating agents to increase solubility of stones.
good hydration
53
Lynch syndrome
aka HNPCC - hereditary non-polyposis colorectal cancer. Mutation in DNA mismatch repair genes
54
Maple syrup urine disease
no degradation of branched amino acids (isoleucine, leucine, valine) due to decreased alpha-ketodehydrogenase or B1.
severe CNS defects and death
55
Von Gierke disease
glycogen storage disease -> increased glycogen stores in kidney and liver -> hepatomegaly.
Due to glucose-6-phosphatase deficiency (no degradation of glucose6P to glucose).
hypoglycemia
increased blood lactate
must eat often to avoid hypoglycemia, corn starch before bed
56
pompe disease
glycogen storage disease. defect in lysosomal alpha-1,4-glucosidase. leads to cardiomyopathy
57
Cori disease
milder form of von gierke disease. Hepatomegaly and increased glycogen stores without increased lactate.
due to defect in debranching enzyme (alpha 1,6 glucosidase)
58
McArdle disease
glycogen storage disease. Defect in skeletal muscle glucogen phosphorylase (myophosphorylase). Unable to breakdown glycogen in muscle cells. Painful muscle cramps, esp when exercising. Arrhythmias from electrolyte imbalances.
osmosis draws water into muscle cells -> burst- > increased myoglobin in serum and urine -> myoglobinuria
59
deficient enzyme in fabry disease leading to what accumulation
alpha galactosidase A
| Ceramide trihexoside accumulation
60
deficient enzyme in Gaucher disease leading to what accumulation
glucocerebrosidase (beta glucosidase)
| glucocerebroside accumulation
61
deficient enzyme in niemann-pick disease leading to what accumulation
sphingomyelinase
| sphingomyeline accumulation
62
deficient enzyme in tay-sachs disease leading to what accumulation
hexosaminidase A
| GM2 ganglioside accumulation
63
deficient enzyme in krabbe disease leading to what accumulation
galactocerebrosidase
| galactocerebroside, psychosine
64
deficient enzyme in metachromatic leukodystrophy disease leading to what accumulation
arylsulfatase A
| cerebroside sulfate accumulation
65
deficient enzyme in hurler syndrome leading to what accumulation
alpha-L-iduronidase
| heparan sulfate and dermatan sulfate accumulation
66
deficient enzyme in hunter syndrome leading to what accumulation
iduronate sulfatase
| heparan sulfate and dermatan sulfate accumulation
67
Fabry disease
x linked recessive lysosomal storage disease with deficiency in alpha-galactosidase A leading to accum of ceramide trihexoside
cv and renal disease, angiokeratomas, peripheral neuropathy of hand and feet
68
Gaucher disease
autosomal recessive lysosomal storage disease with deficiency in glucocerebrosidase (beta glucosidase) leading to accumulation in glucocerebroside.
Gaucher cells - crumpled tissue paper (lipid laden macrophages)
hepatosplenometaly, pancytopenia, aspectic necrosis of femur, bone crises
69
Niemann pick disease
autosomal recessive lysosomal storage disease with deficiency in sphingomyelinase leading to accumulation of sphingomyeline. causes neurodegeneration, hepatospleno, cherry red spot, foam cells (lipid laden macrophages)
70
tay sachs disease
autosomal recessive lysosomal storage disease with deficiency in hexosaminidase A leading to accumulation of GM2 ganglioside.
Progressive neurodegeneration, cherry red, lysosomes with onion skin, no hepatosplen or lipid laden macrophages(like in niemann pick),
71
krabbe disease
autosomal recessive lysosomal storage disorder with deficiency in galactocerebrosidease leading to accumulation in galactocerebroside and pyschosine.
peripheral neuropathy, devo delays, optic atrophy, globoid cells
72
metachromatic leukodystrophy
autosomal recessive lysosomal storage disorder with deficiency in arylsulfatase A leading to accumulation in cerebroside sulfate
central and peripheral demyelination with ataxia and dementia
73
hurler syndrome
autosomal recessive lysosomal storage disease with deficiency in alpha-L-iduronidase and accumulation of heparan sulfate and dermatan sulfate
devo delay, gargoylism, airway obstruction, corneal clouding, hepatospleno
74
hunter syndrome
x linked recessive lysosomal storage disease with deficiecny in iduronate sulfatase leading to accumulation of heparan sulfate and dermatan sulfate.
(hurler syndrome + aggressive behavior - corneal clouding)
devo delay, gargoylism, airway obsturcttion, hepatospleno
75
Bernard-soulier syndrome
deficiency in GpIb on platelets needed to find to vWF sitting on exposed subendothelial collagen
76
Glanzmann thrombasthenia
Deficiency in GpIIb/IIIa on platelets needed to connect two platelets together through fibrinogen
77
HbH
Excess beta globin froms Beta 4
| seen with three allele deletions of alpha globin in alpha thalassemia
78
Hb Barts
tetramer of gamma globin. Due to no alpha globin (4 allele deletion) in alpha thalassemia
incompatable with life
79
Fe, B12 and folate. where are each absorbed?
Fe - duodenum
Folate - Jejunum
B12-Ileum
80
Spinal columns affected in B12 deficiency --> subacute combined degeneration of spinal cord
Lateral corticalspinal tract -> spasticity
Dorsal column --> vibration/ proprioception
(deficiency also caused peripheral neuropathy and dementia)
81
Paroxysmal nocturnal hemoglobinuria
acquired defect in myeloid stem cells against GPI which normally connects DAF (CD%55) and MIRL to mature myeloid cells. Makes cells susceptible to complement.
82
The 5 p's of acute intermittent porphyria
```
Painful abdomen
Port wine colored urine
polyneuropathy
pyschological disturbances
precipitated by drugs, alcohol, starvation
```
83
Deficient enzyme in acute intermittent porphyria
porphobilinogen deaminase (porphobilinogen accumulation)
84
deficient enzyme in sideroblastic anemia
ALA synthase
85
deficient enzyme in porphyria cutanea tarda
uroporphyrinogen decarboxylase
86
symptoms of prophyria cutanea tarda
blistering cutaneous photosynsitivity
87
Deficiency in TTP
ADAMTS13
88
Factor V leiden
mutant factor V leading to less degradation by protein C. Hypercoagulation
89
most common inherited bleeding disorder
VWF disease
90
most common inherited hypercoagulable disease
Factor V leiden
91
CDs for Hodgkins
CD15, CD30 positive
92
Burkitt lymphoma translocation
t(8;14) - cmyc and heavy chain Ig
93
CD5 and CD20 positive
mantle cell lymphoma
94
translocation for mantle cell
t (11;14) cyclin D1 and heavy chain Ig
95
follicular lymphoma translocation
t(14;18) heavy chain Ig and bcl-2
96
which lymphoma is associated with chronic inflammatory states?
Marginal zone lymphoma (MALToma)
| hashimotos, sjogren's, h. pylori
97
starry sky appearance
burkitt lymphoma
98
Lymphoma associated with HTLV
adult T cell lymphoma
99
waldenstrom macroglobulinemia
b cell lymphoma with monoclonal IgM production. Blood viscosity increases
100
CD10, 19, 20+, TdT+
B-ALL
101
t (12,21)
good prognosis ALL
102
smudge cells
CLL/SLL
103
Dry tap and TRAP lymphoma
Hairy cell
104
CD marker for HSC
CD34
105
which cell most sensitive to radiation?
lymphocytes
106
what IL is increased in hodgkins
IL 5 due to eosinophila
107
what cancer has increased basophils
CML
108
Auer rod
AML
109
t (15, 17)
APL
110
Leukemia treated with ATRA (retinoic acid)
APL
111
DIC risk increased in which lymphoma
APL
112
which lymphoma/leukemia has increased risk of autoimmune hemolytic anemia
CLL/SLL
113
which leukemia has splenomegaly of red pulp only
hairy cell
114
which has a good response to 2-CDA (adenosine deaminase inhibitor)
hairy cell
115
pautrier microabscesses
mycosis fungoides
116
cerebriform nuclei - which lymphoma
sezary syndrome/mycosis fungoides
117
which type of lymphomas have rashes
mature T cell cancers (mycosis fungoides and ATLL)
118
What is the mature B cell lymphoma/leukemia
hairy cell, hodgkins and non hogkins, CLL
119
what are the mature T cell lymphomas/leukemias
Mycosis fungoides and ATLL
120
myelofibrosis
proliferation of mature myeloid cells, especially megakaryocytes
121
S100 and CD1a positive
langerhans cell histiocytosis
122
birbeck granules
seen on em
| langerhands cell histiocytosis
123
Jak2 mutation
polycythemia vera esp
| can also be in essential thrombocytosis or myelofibrosis
124
complex that ab binds to in heparin induced thrombocytopenia
IgG against heparin bound to platelet factor 4 (PF4)
125
Dressler syndrome
autoimmune phenomenon resulting in fibrous pericarditis (several weeks after MI)
126
BMPR2 inactivating gene mutation
primary pulmonary HTN
| normally gene inhibits vascular smooth muscle proliferation -> thickened vessels
127
Kimmelstiel wilson lesion
diabetic glomerulonephropathy. nodules are eosinophilic and sclerotic
128
paget disease of bone
increase in both blast and clast activity
| increased hat size and hearing loss common
129
paget disease has increased risk for
osteosarcoma
130
osteopetrosis
impaired osteoclast - thick and dense bone
131
The 5p's of acute intermittent porphyria
```
Painful abdomen
port wine colored urine
polyneuropathy
psychological distrubances
precipitated by drugs alcohol or starvation
```
132
what is the enzyme deficiency in acute intermittent porphyria
porphobilinogen deaminase (prophobilinogen --> hydroxymethylbilane)
133
What is the enzyme deficiency in porphyria cutanea tarda
uroporphyrinogen decarboxylase (uroporphyrinogen --> coproporphyrinogen)
134
Gene mutated in osteogenesis imperfecta
COL1A
135
alport syndrome
problem with type IV collagen (Basement membrane)
| Deafness and kidney problems and possible eye problems (Cataracts)
136
association with chiari type II
meningomyelocele
137
association with chiari type I
syringomyelia
138
polio affects what area of spinal cord
anterior horns -> LMN lesions only -> flaccid paralysis
139
werdnig-hoffmann disease
aka spinal muscular atrophy. congenital degeneration of anterior horns of spinal cord -> LMN -> floppy baby
140
friedreich ataxia
| repeat?
GAA repeat of frataxin (iron binding protein) leading to mito function impairment
degen of multiple spinal cord tracts -> staggering, falling, HCM, kyphosis
141
brown sequard syndrome
hemisection of spinal cord.
ipsi umn signs below level of lesion
ipsi loss of tactile vibration and proprioception sense below level of lesion
contra pain and temp loss below lesion level
at level of lesion: ipsi loss of all sensation of LMN signs.
142
aggregate seen in Pick disease
spherical tau protein (Pick body)
143
accumulation seen in lewy body dementia
alpha-synuclein
144
where are lewy bodies found in parkinsons and LB dementia
Parkinsons - substantia nigra
| LB - neurons of cortex
145
Charcot-Marie-Tooth disease
aka hereditary motor and sensory neuropathy
defective production of proteins needed in structure and function of peripheral nerves or myelin.
have associated scoliosis and foot deformities
146
adrenoleukodystrophy
x linked
disruption of very long chain fatty acid metabolism
excess build up in nervous system, adrenal glands and testes
147
where do parital (focal) seizures most commonly originate
medial temporal lobe
