GI Flashcards
bloating, flatulence, diarrhea in a teenager
carbohydrate malabsorption, like lactase deficiency (with dairy) OR fructose deficiency (with high fructose-containing foods)
Lactose -> galactose + glucose; otherwise bacterial metabolism produces gases
Severe infantile diarrhea, failure to thrive, vomiting, and dehydration after starch/sugars are introduced into the diet?
__ deficiency
Sucrase-isomaltase deficiency is a congenital deficiency most commonly found in Alaskans, Greenlanders
__ presents early in infancy with feeding difficulties, liver damage, cataracts, and shock or liver failure
Galactosemia, which is an inborn error of metabolism
hypoglycemia, liver disease/liver failure, and poor growth once infants are exposed to fructose (formula or solid foods)
Hereditary fructose intolerance, not to be confused with fructose malabsorption, is an inborn error of metabolism due to mutations in the aldolase B gene. Early symptoms include nausea, vomiting, abdominal pain and failure to gain weight. Soy-based formulas may have more sucrose/fructose.
Few-day old infant with liver dysfunction (jaundice, transaminitis), metabolic acidosis, hemolytic anemia, urine reducing substances.
Disorder associated with __ (ophthalmology) and sepsis most often caused by ___ (ID).
Galatosemia. Galactosuria is indicated by the presence of reducing substances in the urine.
Cataracts (congenital) associated with galactosemia may resolve if a lactose-free formula is initiated shortly after birth.
Sepsis is most often caused by Escherichia coli in these infants.
Refer for Liver Transplant after MELD score of __
15
Fragile hair, depigmented skin, muscle weakness, edema, osteoporosis, hepatosplenomegaly - consider this deficiency,
Copper deficiency.
Taste and smell impairment, night blindness, depressed immunity to diarrhea, frequent infections = __ deficiency.
__ is the autosomal recessive defect in intestinal absorption that presents with bullous sacral dermatitis, growth failure, diarrhea, infections.
Zinc
Acrodermatitis enteropathica
Various diseases result in zinc deficiency, such as Crohn disease, renal disease, liver disease, cystic fibrosis, and sickle cell disease. Exclusive breastfeeding in mothers with low zinc levels in breast milk and dietary zinc depletion in developing parts of the world are also causes of zinc deficiency. Treatment of zinc deficiency is 1 to 3 mg/kg/day orally of elemental zinc.
Also associated with Roux-en-Y
Magnesium deficiency associated with this renal syndrome, resulting in ( )-K, metabolic __, and __calciuria
Gitelman syndrome is caused by a recessive genetic mutation resulting in renal magnesium wasting that presents with hypokalemic metabolic alkalosis and hypocalciuria
Childhood or adolescents with symptomatic hypocalcemia should also receive a workup for __, especially if they have hypercalciuria and nephrocalcinosis.
Familial hypomagnesemia
Absent radius on a neonate - what syndrome is this, and what sort of support would this child require in the future?
TAR: thrombocytopenia with absent radius syndrome, which is a genetic disorder inherited in a complex, compound manner. It is associated with a deletion at band 1q21.1 and also requires 1 of 2 polymorphisms at RBM8A.
Thrombocytopenia with absent radius presents with bilateral absent radii with shortened forearms with flexion at the elbow, resulting in an appearance of clubbed arms, but with sparing of the thumb. The normal thumb helps to distinguish this disorder from Fanconi anemia. Other defects of the upper extremities, cardiac defects, a persistently elevated white blood cell count, and anemia can be present with TAR. The thrombocytopenia tends to improve with time in most cases, and the platelet count can be normal after the first year of age. The thrombocytopenia in the first year of age can be life-threatening, but severe bleeding can be prevented through the use of prophylactic transfusions of single-donor platelets when the platelet count drops below a predetermined, age-dependent threshold.
The absent radii are a hallmark of TAR that distinguishes it from other congenital thrombocytopenias. While there are many rare congenital thrombocytopenia syndromes, some of the more common syndromes include:
Bernard-Soulier syndrome: an autosomal recessive disorder causing the absence of functional platelet glycoprotein Ib and a resultant absence of the platelet Ib/IX complex. This absence results in an inability to bind von Willebrand factor. Bernard-Soulier syndrome is a giant platelet disorder, with platelets often exceeding the size of the red blood cell.
Wiskott-Aldrich syndrome: an X-linked disorder that presents with thrombocytopenia with very small platelets, eczema, and an immune deficiency.
MYH9 (myosin heavy chain 9) disorders: varied diseases that result from disruption of MYH9. These diseases include May-Hegglin anomaly and Sebastien, Fechtner, Epstein, and Alport syndromes.
Syndrome: Child with >5 polyps, recurrent painless rectal bleeding
Juvenile polyposis syndrome - refer to genetics for workup, with surveillance q1-3 years.
Children or adults with 5 or more juvenile polyps may have JPS. Most commonly, patients describe painless rectal bleeding; however, some patients may experience diarrhea, abdominal pain, or bowel obstruction from intussusception. Mutations in SMAD4, BMPR1A, and ENG are associated with JPS. Patients with JPS have an increased risk of colorectal and gastric cancer, and surveillance with endoscopy and colonoscopy is recommended annually if polyps are present and every 3 years if no polyps are found. Patients with SMAD4 mutations are also at increased risk for vascular malformations.
Other polyposis syndromes include Peutz-Jeghers syndrome, which is caused by STK11/LKB1 mutations and characterized by mucocutaneous macules and polyps throughout the gastrointestinal tract that can result in intussusception, and familial adenomatous polyposis (FAP) syndrome, which is caused by APC mutations and characterized by numerous adenomatous polyps and significant risk for colorectal cancer. Both syndromes have increased risk for extraintestinal malignancies and have specific screening guidelines
FAP - screen for ___ (non-GI cancer) due to increased risk with ___.
papillary thyroid cancer with thyroid US.
What levels should be checked in new onset PSC?
IgG4 _ because IgG4 cholangitis canbe steroid responsive, where as PSC is not.
Opined induced constipation can be treated with
In patients with laxative-refractory opioid-induced constipation, the American Gastroenterological Association Institute recommends two peripherally acting µ-opioid receptor antagonists, oral naldemedine and subcutaneous methylnaltrexone, and naloxegol, a pegylated form of naloxone
