Pom 7: En

Front 1

PKU clinical presentation

Back 1

Musty body odor
mental retardation
growth retardation
Seizures eczemia
Fair Skin

Front 2

PKU treatment

Back 2

Decrease phenylalanine (contained in aspartame [nutrasweet])
Increase Tyrosine in diet

Front 3

PKU MOA

Back 3

Phenylpyruvic acid build up causes the problems
↓phenylalanine hydroxylase OR ↓ tetrahydrobiopterin cofactor
Tyrosine becomes essential, deceased 5HT and DA
↑Phenylalanine leads to phenylketones in urine

Front 4

Maternal PKU

Back 4

Lack of proper dietary therapy during pregnancy -->microcephaly, mental retardation, growth retardation, and congenital heart defects.

Front 5

What leads to the musty body odor in PKU?

Back 5

Disorder of aromatic amino acid metabolism --> musty body odor

Front 6

Gene deletion in CF?

Back 6

Autosomal recessive defect in CFTR gene on long arm of chromosome 7

Front 7

MOA of CF?`

Back 7

Lungs: deceased Cl- secretion --> decreased Na+ --> deceased H20 movement --> Super thick mucus

Pancreas: plugs cause decrease in fat digestion --> smelly, frothy, malbosption steatorrhea

Reproductive: no cilia = infertile

Front 8

Dx of CF?

Back 8

Sweat test: salty kids
>50 is +

Look at stool: malabsorption

Front 9

Presentation of CF?

Back 9

chronic cough, apathetic, past hx of several infections and is smaller than other classmates
***

Front 10

Commonly associated bugs with CF?

Back 10

Aspergillus
Pseudomonas

Front 11

What can make a HUGE difference in CF patients?

Back 11

partial upregulation of CFTR!
***

Front 12

Fabry’s Disease (XR)

Back 12

Deficient: α-galactosidase A
Accumulated: Ceramide trihexoside
Findings: Peripheral neuropathy of hands, feet, angiokeratomas, cardiovascular/renal disease

Front 13

(MC) Gaucher’s disease

Back 13

Deficient: β-gluco.cerebro.sid.ase
Accumulated: glucocerebroside
Findings: Hepatomegaly, aseptic necrosis of femur, bone crises, Gaucher’s cells (macrophages that look like crumpled tissue paper

Front 14

Niemann-pick disease

Back 14

Deficient: Sphingomyelinase
Accumulated: Sphingomyelin
Findings: Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Front 15

Tay-Sachs disease

Back 15

Deficient: Hexosaminidase A
Accumulated:GM2 ganglioside
Findings: progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly

Front 16

Krabbe’s disease

Back 16

Deficient: Galactocerebrosidase
Accumulated: Galactocerebroside
Findings: peripheral neuropathy, develeopmental delay, optic atrophy, globoid cells

Front 17

Metachromic leukodystrophy

Back 17

Deficient: Arylsulfatase A
Accumulated: Cerebroside sulfate
Findings: Central and peripheral demyelination with ataxia, dementia

Front 18

Hurler’s syndrome

Back 18

Deficient: α-L-iduronidase
Accumulated: Heparin sulfate, Dermatan sulfate
Findings: Central and peripheral demyelination with ataxia, dementia, Corneal clouding, Gargoyle-ism

Front 19

Hunter’s Sundrome (XR)

Back 19

Deficient: Iduronate sulfatase
Accumulated: Heparin sulfate, Dermatan sulfate
Findings: Mild Hurler’s + aggressive behavior, no coneal clouding

Front 20

Von Gierke’s Dz

Back 20

Severe fasting hypoglycemia, ↑↑ glycogen in liver, ↑ blood lactate, hepatomegaly

Deficient enzyme: Glucose-6-phosphate

Front 21

Pompe’s disease
(Type II)

Back 21

Cardiomegaly and systemic findings leading to early death

Deficient enzyme: Lysosomal α-1,4-glucosidase (acid maltase)

Pompe’s trashes the Pump (heart, liver, muscle)

Front 22

Cori’s disease
(Type III)

Back 22

Milder form of type I (Von Girks) with normal blood lactate levels

Debranching enzyme (α -1,6-glucosidase)

Gluconeogenesis is intact

Front 23

McArdle’s dz
(Type V)

Back 23

↑ glycogen in muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria with strenuous exercise

Skeletal muscle glycogen phosphorylase

Mc Ardles = Muslce

Front 24

Maple Syrup Urine dz

Back 24

Deficient enzyme: Branched chain α-ketoacid dehydrogenase
Accumulated substance: Leucine, valine, isoleucine, and their ketoacids
Comments: mental retardation, seizures, feeding problem, sweet smelling urine

Front 25

Acrodermatitis entropathica

Back 25

Autosomal recessive disease
Dermatitis, growth retardation, decreased spermatogenesis, poor wound healing

Zinc deficiency:
Metabolic: Poor wound healing (cofactor in collagenase)
Mouth: dysgusia, anosmia, perioral rash
Children: hypogonadism, growth retardation

Front 26

Causes of RDS in newborns?

Back 26

Decreased surfactant in the lungs d/t prematurity, maternal diabetes, C-section

Front 27

Findings with RDS?

Back 27

thickened alveolarmembrane
Neutrophilic infiltration*
Decreased oxygenation**
Increased Work of Breathing

Front 28

What consitutes premature?

Back 28

<37wks

Front 29

When does surfactant start to be produced?

Back 29

28 weeks

Front 30

Peripheral neuropathy of hands, feet, angiokeratomas, cardiovascular/renal disease

Back 30

Fabry’s Disease (XR)

Front 31

Hepatomegaly, aseptic necrosis of femur, bone crises, macrophages that look like crumpled tissue paper

Back 31

(MC) Gaucher’s disease

Front 32

Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells

Back 32

Niemann-pick disease

Front 33

progressive neurodegeneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly

Back 33

Tay-Sachs disease

Front 34

peripheral neuropathy, develeopmental delay, optic atrophy, globoid cells

Back 34

Krabbe’s disease

Front 35

Central and peripheral demyelination with ataxia, dementia

Back 35

Metachromic leukodystrophy

Front 36

Central and peripheral demyelination with ataxia, dementia, Corneal clouding, course facial features

Back 36

Hurler’s syndrome

Front 37

Mild Hurler’s + aggressive behavior, no coneal clouding

Back 37

Hunter’s Sundrome (XR)

Front 38

Chrons Dz

Back 38

Transmural bowel involvement with mucosal damage
Skip lesions
Presence of non-caseating granulomas
Fissuring with fistula formation
Peaks in the 20s and 50s-60s

Front 39

Chrons dz, P-ANCA + or -?

Back 39

P-ANCA negative
Ulcerative colitis is PANCA+

Front 40

Chronic complications of Chrons?

Back 40

Fibrosing strictures
fistulas
peritoneal abscess
extensive small bowel invovlement causing malabsorptive problems

Front 41

Chrons on X-ray?

Back 41

string sign

Front 42

Smoking... better for UC or chrons?

Back 42

UC

Front 43

Perioral rash, hypogonadism, growth retardation, poor wound healing

Back 43

Zinc deficiency

Acrodermatitis Enteropathica

Front 44

Acrodermatitis Enteropathica inheritance?

Back 44

Autosomal recessive

Front 45

Acrodermatitis Enteropathica S/S?

Back 45

dermatitis, growth retardation, decreased spermatogenesis, poor wound healing

Front 46

Mental retardation, seizures, feeding problems, sweet smelling urine. What is the deficiency and accumulated substance?

Back 46

Maple syrup urine dz

deficient in branched chain alpha ketoacid dehydrogenase

Accumulated: Isoleucine*, leucine, valine, and thier ketoacids