GI and Nutrition Flashcards
what is marasmus?
severe calorie malnutrition
what is kwashiorkor?
severe protein deficiency (will have pitting edema, fatty liver)
what are common manifestations of vitamin C deficiency?
follicular hyperkeratosis, “corkscrew-coiled” hairs, gingival bleeding, brittle bones, anemia
white lines of frankl - associated with vit c deficiency (scurvy)
what are characteristics of vitamin A deficiency?
Vitamin A Night blindness, xerophthalmia, Bitot spots, follicular hyperkeratosis
if corneal clouding present - emergency, needs large doses of IV vitamin A
what causes scaly skin, pseduotumor cerebri and hepatomegaly?
vitamin A overdose
what is seen with vitamin D deficiency?
weight-bearing age and results in poor growth, curvature of weight-bearing bones (Fig. 10-9), widening of epiphyses, and costochondral “rachitic rosary” beading (Fig. 10-10). Craniotabes, or softening of the skull, may be seen in infants
lab findings in rickets?
high PTH
low 25-OH D3
high 1,25-OH2
low calcium
low phos
before and after of what disease?
Rickets. Radiograph of the wrist of a patient with rickets. A, Irregularity and widening of the epiphyses in the distal radius and ulna. B, With appropriate therapy, remineralization and healing occur.
what is the other name for vitamin E?
tocopherol
manifestations of vitamin E deficiency?
neurologic dysfunction, neuroaxonal degernation and loss of reflexes, hemolytic anemia, peripheral neuropathy
what vitamin deficiency causes:
Beriberi: parasthesias, foot and wrist drop
Wernicke encephalopathy: opthalmoplegia, ataxia, confusion
thiamine (b1)
what vitamin deficiency causes:
cheilosis and sore tongue?
riboflavin (b2)
what vitamin deficiency causes:
pellagra: dermatitis, dementia and diarrhea
niacin B3
what vitamin deficiency causes:
megaloblastic anemia?
cobalamin B12
what vitamin deficiency causes:
diarrhea, rash, hypoguesia
zinc
in what syndromes can esophageal perforation occur spontaneously?
marfan and ehlers danlos
what metabolic derrangement occurs with pyloric stenosis?
hypochloremic hypokalemic metabolic alkalosis
what is menetrier disease?
protein-losing gastropathy secondary to CMV
swollen fundus and body
what is zollinger-ellison syndrome?
gastrin-secreting tumor (gastrinoma)
what is associated with gastrinomas?
MEN-1
so look for hyperparathyroidism and adrenal tumors
at what age do kids start to develop lactase deficiency?
2yrs and up
what is abetalipoprotinemia?
autosomal recessive
absence of apo B
inability to synthesize chylomicrons
maldorous steatorrhea, FTT
need fat soluble vitamins, limit fat intake
what is hartnup disease?
defect in transport of free neutral amino acids
what is defective in blue diaper syndrome?
tryptophan (malabsorption of it)
how do children with abnormal zinc absorption present?
bullous and pustular dermatits
alopecia
blepharitis
conjunctivitis
diarrhea
FTT
what is absorbed in the ileum (important for short gut kids)
bile salts
vitamin B12
name some things associated with UC
clubbing
ankylosis spondylitis
erythema nodosum
pyoderma gangrenosum
primary sclerosing cholangitis
dvt/pulm embolism
name some things associated with chron’s disease
apthous ulcers
fissures
anal fistulas
abscesses
weight loss
growth failure
which responds to bowel rest: UC or chrons
chrons
how does peutz-jeghers present
autosomal dominant
GI harmartomatous polyps and mucocutaneous hyperpigmentation
lip and buccal freckles!
intermittent colicky abdominal pain
increased risk of cancers
what is proteus syndrome?
hemihypertrophy, hamartomatous polyps, gigantism of extremities, angiomas (PTEN related)
what is Gardner syndrome?
familial adenomatous polyposis with extraintestinal tumors
desmoid tumors, epidermoid cysts, osteomas,
need screening colonoscopies, thryoids studiesn, and upper GI studies to monitor for cancer
what type of lymphoma is common in the small intestine
burkitt’s lymphoma (non-hodgkins)
what are omphaloceles associated with?
beckwith-wiedemann, pentalogy of cantrell, trisomies
which is located on the midline - omphalocele or gastroschisis?
omphalocele - umbilical cord connects to it
gastroschisis is to the right of the umbilicus
what are the top three causes of rectal prolapse?
- constipation
- diarrhea
- CF
what are the top two causes of exocrine pancreatic insufficiency?
- CF
- Shwachman-Diamond syndrome
what makes up shwachman-diamond syndrome?
pancreatic insufficiency, short stature, neutropenia, skeletal abnormalities
autosomal recessive
higher risk of myelproliferative disorders
what is the cullen sign? the grey turner sign?
cullen: bluish discoloration around/near umbilicus
grey turner: bluish discoloration of the flanks
both associated with acute hemorrhagic pancreatitis
what is the triad for choledocal cyst? how do you image it?
abdominal pain, jaundice, RUQ mass
ultrasound will show extra and intrahepatic dilitation
ERCP can show anatomy
what is associated with congenital hepatic fibrosis?
autosomal recessive polycystic kidney disease
what is caroli disease?
abnormality of the hepatic ductal plate - congenital dilation of the larger, segmental intrahepatic bile ducts
can occur with congential hepatic fibrosis (dilated bile duct structuresand portal tracts without interlobular ducts in the center)
what is alagille syndrome?
autsomal dominant
associated with peripheral pulmonary stenosis and neonatal cholestasis
“paucity” of small intrahepatic ducts, butterfly vertebrae, abnormal radius/ulna, and facies including pointed chin and prominent forehead
what do you use for hepatitis A prophylaxis in case of exposure?
immunoglobulin
also give to household contacts, needlesharing partners, daycare, nursing home
does gilbert cause conjugated or unconjugated hyperbili?
unconjugated
alteration in UDP-GT gene
prominent during times of illness or fasting
what is difference between crigler-najjar type 1 and type 2?
type 1: no conjugated bilirubin (complete absence of UDP-GT activity), need exchange transfusion as neonate
type 2: partial activity, hyperbili <10 is common, resolves with phenobarb
what is dubin-johnson syndrome?
deficiency of MOAT/MRP2 gene - mild conjugated hyperbili, no hepatocellular injury
how does a1-antitrypsin present?
neonatal cholestasis, juvenile cirrhosis, chronic hepatitis, hepatocellular cancer
what are the screening tests for wilson disease?
ceruloplasmin (will be low)
24-hr urinary copper (high)
liver biopsy
can give D-penicillamine (will increase urinary excretion even higher)
what is the triad for hemochromatosis?
elevated iron levels, bronzed skin, diabetes
what are teh antibodies anti-sla and anti-lkm associated with?
autoimmune hepatitis
(look for other autoimmune diseases)
what will you see on cholangiogram in primary sclerosing cholangitis?
“beading” - alternating normal and strictured portions of biliary tree
what is fitz-hugh-curtis syndrome?
gonococcal perihepatitis
what all is hydrops of the gallbladders associated with?
kawasaki, strep pharyngitis, prolonged fasting, tpn, HSP
noninflammatory enlargement of gallbladder
what is the most common malignant liver tumor in children?
hepatoblastomas
elevated afp
