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Pedia - malabsorptio

med22

QuestionAnswer
What is the basic defect defining Malabsorption? A defect in absorbing nutrients and fluids from the intestinal lumen, resulting in excessive losses and leading to Malnutrition and Failure to Thrive.
List the three general causes of Malabsorption based on anatomical/physiological defects. 1. Brush boarder defect, 2. Anatomical defect, and 3. "Factor" deficiency.
In a patient with Cholestatic liver disease or biliary atresia, what is the specific malabsorption that results? Fat and fat-soluble malabsorption due to absent bile salts in the duodenum, causing defective solubilization of triglyceride products.
Case: A 2-year-old boy presents with foul-smelling diarrhea, poor growth since 12 months of age, intermittent post-prandial abdominal pain, and a family history of autoimmune thyroiditis. What is the next diagnostic step? Test for Tissue transglutaminase IgA (tTG-IgA) antibody.
What is Celiac Disease and which specific dietary component triggers it? An Autoimmune Enteropathy affecting the proximal small intestine mucosa. It is triggered by the Gliadin fraction of gluten (found in wheat, barley, and rye).
List three systemic, non-gastrointestinal signs of Celiac Disease. Growth issues, Iron deficiency anemia, Skin rash (acrodermatitis enteropathica), or recurrent arthritis/arthralgia.
What is the Gold Standard for the diagnosis of Celiac Disease, and what are the two hallmark histological findings? Upper endoscopy with small bowel biopsy. Histological hallmarks are Villous atrophy and crypt hypertrophy.
What is the primary treatment for Celiac Disease? A Gluten-free diet.
Case: A 12-year-old male presents with recurrent abdominal pain/diarrhea, recurrent oral sores, arthritis, macrocytic anemia, high ESR, microscopic blood in stool, and high fecal calprotectin. What is the most likely diagnosis? Crohn’s disease.
What is the histological hallmark finding for Crohn's Disease on biopsy? Non-caseating granuloma.
Differentiate Crohn's Disease from Ulcerative Colitis based on the pattern and location of inflammation. Crohn's Disease has patchy and transmural inflammation throughout the small and large bowel. Ulcerative Colitis has continuous and uniform mucosal inflammation localized in the Colon.
List three Extra-Intestinal Manifestations (EIMs) of Crohn's Disease. Oral lesions, Perianal skin tags/fistula/abscess, Uveitis, Arthralgia, or Erythema nodosum.
List three categories of medications used to induce remission in Inflammatory Bowel Disease (IBD). Steroids, Exclusive Enteral Nutrition (EEN), Aminosalicylates (e.g., Mesalamine), or Biologic Rx (e.g., Infliximab).
Case: A 3-year-old female presents with bronchiectasis, Pseudomonas in sputum, chronic greasy foul-smelling stools, and short stature/poor weight gain (weight < 5th percentile). What is the most likely cause of malabsorption? Pancreatic insufficiency (most commonly due to Cystic Fibrosis).
What is the genetic defect in Cystic Fibrosis (CF), and how does it cause malabsorption? A defective CF Transmembrane conductance Regulator (CFTR) protein. This leads to blocked pancreatic ducts by thick secretions, causing pancreatic enzyme deficiency (lipase, amylase, protease).
What is the gold standard diagnostic test for Cystic Fibrosis (CF)? The Sweat test (Pilocarpine stimulation) showing a Chloride level $\ge 60$ mmol/L.
What is the core management strategy for malabsorption due to pancreatic insufficiency in Cystic Fibrosis? Pancreatic enzyme replacement.
Case: A 9-year-old with a history of uncontrolled Celiac disease presents with abdominal distention and lower limb edema. Labs show hypoalbuminemia and iron deficiency anemia, with normal LFTs and urinalysis. What is the most likely diagnosis? Protein Losing Enteropathy (PLE).
What lab test is specific for confirming protein loss from the gut in Protein Losing Enteropathy? Increased stool alpha 1 antitrypsin.
List two common causes of Protein Losing Enteropathy. Celiac disease, Inflammatory bowel disease (IBD), or Intestinal lymphangiectasia.
Created by: MeanHeem
 

 



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