GI Flashcards
Polyposis syndromes: Peutz Jeghers
- when children have 5 or more juvenile polyps
- adenomatous polyps
- or family hx of polyposis or early colorectal cancer
Juvenile polyposis: Just polyps in GI tract
- 5 or more polyps = JPS
- referred for genetic testing
- surveillance yrly if polyps present
Peutz Jeghers:
+ freckling of mucocutaneous and hands/feet
polyps that frequently present as intussusception
Gardner: + desmoid tumors, osteoma, dental
Familial adenomatous polyposis: + desmoid tumors, osteoma, dental, hypertrophy of retinal pigment epithelium (eye shit)
ALL are AUTOSOMAL DOM
ALL are associated with certain cancers - need to be followed by Onc
Irritable Bowel syndrome Tx
Tx: peppermint oil
DX: at least 3 days/month in the past 3 months without other etiology. pain may change with stooling pattern and may be relieved by defecation.
Rectal Prolapse - screen for what disease?
CF
Causes of rectal prolapse:
- functional constipation and excessive straining
- chronic diarrhea
- CF (prevalence of rectal prolapse 19%!)
juvenile Colonic Polyps
Juvenile colonic polyps are relative common
Present in 1st decade of life.
Can be associated with bleeding.
If LESS THAN 5 = okay.
If SOLITARY and NO ADENOMATOUS component - then there is no risk for cancer.
Campylobacter
Most are self-limited and do not require tx.
Gram-Neg helical bacteria
Associated with ingestion of contaminated poultry or fecal material from pets, untreated water, unpasturized milk.
BUT treat if immunocompromised, chronically ill, pregnant, severe or prolonged (> 1 wk) sx.
AKA like in CF patients**
Tx:
Azithromycin**
What condition is associated with achalasia?
Adrenal insufficiency!
Triple-A or Allgrove syndrome
- Achalasia
- Adrenal insufficiency
- Alacrima (reduced ability to secrete tears)
- Autonomic dysfxn (abnl sweating, orthostatic hypotension, altered heart rate)
Autoimmune Hepatitis
Type I:
- 10-20 years, females
- ANA and Anti-SM
Type II:
- younger children
- more severe
- anti-liver kidney microsomal Ab is positive
- HYPERgammaglobulinemia
- fever, RUQ pain, jaundice, transaminases, bilirubins, GGT and Alk phos elevated
- Tx: immunosuppression
Hirshsprung on barium enema
Aganglionic segment = Distal narrowed segment
Ganglionic segment = Proximal dilated segment
Pyloric Stenosis
Pyloric Thickness > 4 mm
Overall Pyloric Length of > 18 mm
HypoK HypoCl Met Alkalosis
Test to confirm biliary atresia
Intraoperative Cholangiogram
- if positive, proceed to Kasai procedure
Initial tests:
- Abd US
- HIDA
- Liver Biopsy
DDX of neonatal unconjugated vs conjugated bilirubinemia
Unconjugated - messed up UGT1A1
- Crigler-Najjar
- Gilbert
Conjugated
- Dubin Johnson and Rotor - genetic defects that prevent exportation of bile from hepatocytes to bile
- Biliary atresia
- cystic fibrosis
Hereditary Hemachromatosis
Iron overload disease
- high ferritin and transferrin**
- mutation in the HFE gene - hepcidin expression. Hepcidin is inversely proportional to iron
Sx: fatigue, malaise, abdominal pain, arthralgias, impotence, cardiomyopathy, and development of diabetes secondary to pancreatic overload.
Physical findings include hepatosplenomegaly, bronze discoloration of skin, and arthropathy.
Tx: phlebotomy, chelation with desferrioxamine
Hepatitis A
flu-like symptoms + elevated liver enzymes
from endemic countries usually
EXCLUDED from work/school for 1 wk after symptom onset (shedding of hep A in stool diminishes significantly after 1 wk).
No post exposure prophylaxis
Hepatitis A does not induce a chronic carrier state, nor does it lead to chronic infection.
What is a complication of UC that causes fatigue, pruritis, HSM, and elevated GGT?
Primary Sclerosing Cholangitis
- chronic inflam and fibrosis of intra and/or extra hepatic bile ducts
- MRCP to diagnose
What is preferred diagnostic imaging modality for cholelithiasis, cholecystitis, or choledocholithiasis?
Ultrasound!!!
Cholelithiasis: colicky RUQ pain, shoulder pain, n/v
Cholecystitis: fever, RUQ pain, murphy’s
Choledocholithiasis: jaundice, acholic stools
Cholangitis: jaundice, AMS, shock
The risk for cholelithiasis is highest in children with chronic hemolytic anemia, obesity, or long-term exposure to parenteral nutrition.