GI Metabolic, Nutrition, Food Allergy DOs Flashcards
(36 cards)
what is PKU and PP behind it?
autosomal recessive disorder of amino acid metabolism (unable to metabolize phenylalanine and builds up in urine and blood)
PP = deficiency in phenylalanine hydroxylase that converts phenylalanine to tyrosine
CP, Dx, and Tx for PKU
CP: presents a little bit after birth once foods are introduced with poor feeding, vomiting, musty odor (urine), light sensitivity, inc DTRs, mental delays
*blonde, blue eyed children MC
Dx: increased serum phenyalanine
*newborn screen performed in US
Tx: lifetime restriction of foods with phenyalanine (milk, cheese, nuts, chicken, meats, eggs, legumes) + supplemental tyrosine
what is paget’s disease? biggest RF?
abnormal bone remodeling seen in aging bone (increased osteoclastic and osteoblastic activity) = leads to larger, weaker bones
RF: western european descent, 40% AD
CP of paget’s disease?
MOST ARE AS (70%), found incidentally
If sxs, BONE PAIN MC, bowing deformities, skull enlargement (deafness, headache)
Dx and Tx of paget’s disease
Dx: isolated high alk phos (normal Ca, PTH, and phosphate levels)
Skull XR: “cotton wool appearance”- poorly defined and fluffy sclerotic patches (thickened and disorganized trabeculae)
Tx: AS pts don’t require tx, sxs pts given bisphosphonates (inhibit osteoclast and blast activity), plus vit D and C supplements
what is ricket’s and what is it usually due to?
*usually due to vit D deficiency during early life (when ca needs are high) + decreased sun exposure
Often not seen in US
CP, dx, and Tx of ricket’s?
CP: delayed fontanel closure, genu varum (LATERAL bowing), delayed dentition, growth delays
Dx: classic labs are dec Ca, phosphate, and vit D (inc PTH and alk phos)
XR: costochondral junction enlargement, long bones have fuzzy cortex
Tx: vitamin D supplementation (ergocalciferol)
what happens in vitamin D deficiency? CP? how to Dx and Tx?
low bone turnover + decreased osteoid mineralization (osteomalacia) and/or DECREASED CARTILAGE AT GROWTH PLATES (RICKET’s)
CP: muscle aches, diffuse pain, periosteal pain with pressure, bowing of legs
Dx: serum 25-OH Vit D level (<20 is deficiency)
Tx: vit D supplementation (ergocalciferol)
what is osteomalacia? how to dx this?
severe vit D deficiency which leads to demineralization of bone osteoid (“soft bones”)- MC
Dx: XR shows “looser lines” (zones) which are transverse pseudo fracture lines
what are the fat soluble vitamins?
A, D, E, K
who gets Vitamin A deficiency? what is the CP for vitamin A deficiency? how to dx and tx?
RF: alcoholics, liver dz, fat free diets
Vision changes: night blindness, dry eyes
dry mouth, dry hair, brittle nails
squamous metaplasia (eyes- “bitot’s spots”, respiratory, urinary)
Dx: decreased serum retinol levels or retinol binding protein
Tx: supplementation of vit A in diet or pills (liver, beef, chicken, eggs, greens)
common CP finding of acute vit A toxicity?
idiopathic intracranial HTN
vitamin B2 is called what? CP for deficiency?
riboflavin
ORAL = MAGENTA tongue, oral lesions, glossitis, angular cheilitis
OCULAR = photophobia, corneal lesions
GENITAL = scrotal dermatitis
what is vitamin C deficiency called? who gets this? common CP?
RF: alcoholics, elderly, malnourished
CP: 3 H’s
1). hyperkeratosis: hyperkerototic areas on skin
2). hemorrhage: vascular fragility with recurrent hemorrhages (gums, skin (petechiae), joints)
3). hematologic: anemia, increased bleeding
*POOR WOUND HEALING
how to dx and tx vit C deficiency?
dx: low serum ascorbic acid levels
tx: replacement of levels
what is the common clinical manifestation of vitamin K deficiency?
BLEEDING
*common in newborns: why they get IM shot upon birth
what common sxs present with vit E deficiency? how to dx and tx this?
CP: NEURO sxs (nerve and muscle damage)
dx: serum alpha-tocopherol levels
tx: address underlying cause
Vitamin B6 deficiency: common in what patients? clinical sxs? how to tx?
common in pts taking ISONIZAD (TB med) and alcoholics
CP: neuro sxs (peripheral neuropathy, HA, mood changes, seizures), microcytic anemia
Tx: supplement B6 esp with isoniazid med
when considering vitamin deficiencies, what are the three likely options of why there is not enough in the body?
1) . decreased ingestion
2) . decreased absorption
3) . increased requirement
what is Kwashiorkor?
protein deficiency with adequate caloric intake
*often child who presents with edema (swollen head and belly)
what is marasmus?
protein and caloric intake deficiencies (VERY thin person)
what are 3 sources of B3 and two common causes of Vitamin B3 deficiency?
Niacin deficiency
sources: meats, legumes, grains
RF: diets high in untreated corn (lack tryptophan) or alcoholics
CP for vitamin B3 deficiency
PELLAGRA: 3 D’s
1) . dermatitis: hyperpigmented dermatitis esp on sun exposed areas
2) . diarrhea
3) . dementia
who is at risk for B1 deficiency?
thiamine deficiency
RFs: alcoholics (MC), weight loss surgery, dialysis
