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Chronic Diarrhea in Children: Etiopathogenesis and Diagnostic Approach

ETIOPATHOGENESIS OF CHRONIC DIARRHEA

Chronic diarrhea is defined as the passage of loose stools lasting more than 2–4 weeks. Its etiopathogenesis can be categorized based on mechanism and etiology:


A. Based on Pathophysiologic Mechanisms

  1. Osmotic Diarrhea
    • Caused by ingestion or malabsorption of osmotically active substances.
    • Resolves with fasting.
    • Examples:
      • Lactase deficiency
      • Disaccharidase deficiencies (e.g., sucrase-isomaltase)
      • Congenital chloride diarrhea
  2. Secretory Diarrhea
    • Due to increased active secretion or decreased absorption of electrolytes and water.
    • Persists during fasting.
    • Examples:
      • Congenital chloride/bicarbonate diarrhea
      • VIPoma
      • Microscopic colitis
      • Bile acid malabsorption
  3. Inflammatory Diarrhea
    • Damage to intestinal mucosa leads to exudation of blood, mucus, protein.
    • Examples:
  4. Dysmotility
    • Altered intestinal motility affects absorption.
    • Examples:
      • Irritable bowel syndrome
      • Post-infectious diarrhea
      • Hyperthyroidism
  5. Malabsorptive Diarrhea
    • From structural or functional loss of absorptive surface.
    • Examples:
      • Celiac disease
      • Short bowel syndrome
      • Abetalipoproteinemia
  6. Post-Infectious Diarrhea
    • Following acute gastroenteritis.
    • Can lead to transient lactose intolerance or persistent diarrhea.

B. Based on Etiological Classification

  1. Infectious
    • Persistent infections: Giardia, Cryptosporidium, TB, HIV
  2. Allergic/Immunologic
    • Cow’s milk protein allergy
    • Food protein-induced enterocolitis
    • IBD (Crohn’s, Ulcerative colitis)
    • Celiac disease
  3. Malabsorptive Disorders
    • Cystic fibrosis
    • Celiac disease
    • Bile acid deficiency
  4. Anatomic Abnormalities
    • Short bowel syndrome
    • Post-surgical states
  5. Endocrine and Metabolic Disorders
    • Addison’s disease
    • Hyperthyroidism
    • VIPoma
  6. Functional/Non-organic
    • Toddler’s diarrhea
    • Irritable bowel syndrome

SCHEME OF INVESTIGATION FOR A CHILD WITH CHRONIC DIARRHEA

Step 1: Detailed History

  • Duration, frequency, character of stools
  • Failure to thrive, weight loss
  • Blood/mucus in stool
  • Dietary history (milk, gluten)
  • Travel, contact history, pets
  • Family history (CF, IBD, consanguinity)

Step 2: Physical Examination

  • Nutritional status (height, weight, MUAC)
  • Signs of malnutrition (wasting, vitamin deficiencies)
  • Perianal findings (fistula, tags suggest Crohn’s)
  • Systemic signs (thyromegaly, edema, clubbing)

Step 3: Baseline Laboratory Investigations

  • CBC (anemia, eosinophilia)
  • ESR/CRP (inflammation)
  • Serum albumin, total proteins
  • Electrolytes
  • Stool microscopy, ova/cysts, culture
  • Stool pH, reducing substances (suggest carbohydrate malabsorption)
  • Stool fat estimation (Sudan stain or 72-hour fat test)

Step 4: Targeted Workup

Based on clinical suspicion:

Condition SuspectedSpecific Tests
Celiac DiseaseAnti-TTG IgA, Total IgA
Cystic FibrosisSweat chloride test, CFTR gene
IBDFecal calprotectin, colonoscopy with biopsy
GiardiasisStool antigen, ELISA, duodenal aspirate
Cow’s milk allergyStool eosinophils, elimination diet
EndocrinopathyThyroid function, cortisol
MalabsorptionUpper GI endoscopy, biopsy

Step 5: Imaging and Endoscopy

  • Abdominal USG/CT – mass, lymphadenopathy, bowel thickening
  • Upper GI endoscopy with biopsy – celiac, eosinophilic gastroenteritis
  • Colonoscopy with biopsy – IBD, TB
  • Sweat test – CF

Step 6: Therapeutic Trials (in select cases)

  • Lactose-free diet
  • Elimination of cow’s milk protein
  • Gluten-free diet trial (after testing)
  • Empirical metronidazole for giardiasis