Bafl Exam 3: Nutritional Deficiencies

Front 1

Pathogenesis of marasmus?

Back 1

Chronic low intake of total calories

Front 2

Presentation of marasmus?

Back 2

< 60% IBW, no peripheral edema, xerosis, lanugo (hypertrichosis lanuginosa acquisita)

Front 3

< 60% IBW

Back 3

marasmus

Front 4

Protein deficiency that typically presents with edema?

Back 4

kwashiorkor

Front 5

Lanugo in adults is associated with which cancers?

Back 5

lung, colon, breast

Front 6

60-80% IBW?

Back 6

kwashiorkor

Front 7

Presentation of Kwashiorkor?

Back 7

60-80% IBW, desquamation and superficial erosions 'flaky paint', dyschromia

Front 8

Dermatitis of intertriginous regions, alopecia, xerotic/leathery skin --> all indicative of an essential fatty acid deficiency?

What are the essential fatty acids?

Back 8

linoleic acid, linolenic acid, arachidonic acid

Front 9

vitamin deficiency?

Back 9

Vitamin A

Bitot spots

Front 10

Vitamin A deficiency manifests as?

Back 10

dry, wrinkled skin, phrynoderma (keratotic perifollicular papules), bitot's spots (keratin deposits on conjunctiva), keratomalacia (softening of the cornea with eventual corneal ulceration with prolapse of iris), night vision

Front 11

What is often the first sign of vit A deficiency?

Back 11

night blindness

Front 12

Supplements for vitamin A deficiency?

Back 12

100,000- 300,000IU daily, visual disturbances correct in days, skin lesions resolve in weeks to months

In developing countries, supplementation recommended for all young children and postpartum women, plus patients with **measles**

Front 13

Isotretinoin + new onset headaches?

Back 13

Pseudotumor cerebri with papilledema

Front 14

RF for vitamin D deficiency?

Back 14

breast fed infants, AA, limited sun, advanced age, BMI > 30

Front 15

Which lab should you check to get the most accurate estimate of body vitamin D stores?

Back 15

25- hydroxy vitamin D

Front 16

UV spectrum needed for vit D?

Back 16

UVB (295-300nm)

Front 17

Sources of vitamin K? What is it needed for?

Back 17

50% from diet

50% from gut

cofactor for clotting factors II, VII, IX, X, protein C, protein S

Front 18

Presentation of beriberi? Deficiency of what?

Back 18

Vitamin B1 (thiamine)

edema, glossitis/glossodynia, Korsakoffs (peripheral neuropathy, mental confusion, confabulation), Wernickes encephalopathy ( ophthalmoplegia, ataxia, confusion)

Front 19

Presentation of oro-oculo-genital syndrome? Deficiency of what?

Back 19

Vitamin B2 (riboflavin)

scaly papules, ulcers and seb derm like changes around mouth, nose, ears, genitals

**magenta tongue**

Front 20

vitamin deficiency?

Back 20

Vitamin B3 deficiency (niacin)

Casal's necklace

Front 21

Presentation of Vitamin B3 deficiency?

Back 21

Vitamin B3 = NIACIN

PELLAGRA (dermatitis, diarrhea, dementia)

Front 22

Eating a corn based diet can lead to Pellagra (concurrent tryptophan deficiency). What medications can cause Pellagra?

Back 22

INH, anticonvulsants, 6MP, 5FU

Front 23

What is Hartnup's disease? Gene mutation?

Back 23

XR decreased absorption of tryptophan

SLC6A19

photodistributed pellagra like malar erythema, intermittent ataxia, nystagmus, psychiatric disturbances

Front 24

Starting a patient on isoniazid warrants supplementation with...

Back 24

vitamin B6, to avoid macrocytic anemia

Front 25

Anemia with neurologic symptoms? Without neurologic symptoms?

Back 25

Macrocytic anemia with neuro sx: Vit B9 (folate) def

Macrocytic anemia without neuro sx: Vit B12 def

Front 26

Key findings in vitamin C deficiency?

Back 26

5 H'S

Hyperkeratosis of hair follicles

Hairs in corkscrew

Hemorrhage (perifollicular, gingival)

Hematologic abnormalities (anemia)

Hypochondriasis

Front 27

Difference between type I and type III zinc deficiency?

Back 27

I: inadequate intake d/t TPN or low breast milk concentration of Zn (mom has a mutation in SLC30A2), this will present at birth

III: malabsorption d/t mutation in SLC39A4 (ZIP4) in child, presents after weaning

Front 28

Back 28

acrodermatitis enteropathica

Zinc deficiency

Front 29

Necrolytic acral erythema is associated with?

Back 29

Hepatitis C

Front 30

Necrolytic migratory erythema is associated with?

Back 30

glucagonoma

Front 31

Cutaneous features of iron deficiency?

Back 31

koilonychia, glossitis, brittle, lusterless hair

Front 32

Mutation in hemochromatosis?

Back 32

HFE

increased iron absorption in gut into many tissues --> metallic grey pigmentation, koilonychia, hepatomegaly, cardiac failure, IDDM

Front 33

Mutation in Menkes kinky hair disease? Inheritance? Hair presentation?

Back 33

XLR mutation in MNK (ATP7A) --> defective copper absorption, manifests at 2-3 months of age as FTT, MR, seizures, tortuous arteries and kinky hair (pili torti, monolithrex), very poor prognosis

Front 34

Mutation in Wilson disease? Where is the copper depositing in Kayser Fleisher rings?

Back 34

APT7B gene encodes ATPase Cu+ transporation polypeptide --> high copper level, low ceruloplasm level

copper deposits in Descemet's membrane for KFR