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Cause Diarrhea Age of onset History Physical exam Lab findings Additional finding Cause Gold standard dignosis
Watery Fatty Weight loss FTT Abdominal pain
Celiac disease +/- +/- Childhood

Adult

+ + +
  • IgA endomysial antibody (IgA EMA)
  • IgA tissue transglutaminase antibody (IgA tTG)
  • IgG tissue transglutaminase antibody (IgG tTG)
  • IgA deamidated gliadin peptide (IgA DGP)
  • IgG deamidated gliadin peptide (IgG DGP)
  • HLA-DQ2 and/or DQ8 gene mutation
  • Innate responses to wheat proteins
  • Immunoglobulin A (IgA) anti-tissue transglutaminase (TTG) antibody
Lactose intolerance + - Adult - - +
  • Stool osmotic gap of >125 mOsm/kg
  • Stool pH <6
  • Acquired primary lactase deficiency
    • Adult-type hypolactasia
    • Lactase nonpersistence)
  • Lactose breath hydrogen test
Cystic fibrosis - + Infancy and childhood + + +
  • Digital clubbing
  • Respiratory rale, wheeze, and crunckles
  • Abdominal pain
  • Cyanosis
  • Positive DNA analysis for CFTR multimutation method
  • Evaluated nasal transepithelial potential difference (NPD)
  • Disease manifestations in multiple organ systems:
    • Diabetes
    • Recurrent upper and lower respiratory tract infections
    • Infertility
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein
  • Elevated sweat chloride ≥60 mmol/L
Laxative overuse + - After childhood +/- - +/-
  • enhanced gastrointestinal motility and gastrointestinal sound
  • Mild abdominal tenderness
  • Abdominal bloating
  • Hypokalemia
  • Metabolic alkalosis
  • Hypermagnesemia(in case of magnesium laxative usage)
- Laxative drug abuse
  • laxative screening on a stool for:
    • Diphenolic laxatives (eg, bisacodyl)
    • Polyethylene glycol-containing laxatives
Crohns disease + - Young adults

(20th)

+ +
Hyperthyroidism + -
VIPoma + - +
  • Elevated VIP levels
  • Followed by imaging
Irritable bowel syndrome + -
lactose intolerance - + Lactose breath hydrogen test
Whipple disease - + + - +
Upper endoscopy with biopsies of the small intestine for T. whipplei testing (histology with PAS staining, polymerase chain reaction [[[PCR]]] testing, and immunohistochemistry)
Allergic enteropathy/Food protein-induced enterocolitis syndrome (FPIES) + - Infancy +/- +/- +
  • Nausea
  • Vomiting
  • Abdominal distention
S/E:
  • Blood-tinged and mucusy
  • Polymorphonuclear leukocytes presence
  • triggered by cow's milk protein
  • profuse, repetitive vomiting
oral food challenge (OFC)
Eosinophilic gastroenteritis + - 3rd decade +/- +/- +
  • Nausea
  • Vomiting
  • Abdominal distention
  • elevated serum IgE levels
  • abnormal D-xylose test
  • one-half of patients have other allergic diseases
  • associated with an identifiable dietary antigen
eosinophilic infiltration of the gastrointestinal tract on biopsy
Microscopic colitis + - 6th decde + - +
  • Abdominal tenderness
  • autoantibodies include:
    • RF
    • ANA
    • AMA
    • ANCA
  • Fecal urgency
  • Incontinence
  • My be associated with extraintestinal symptoms, such as:
    • Arthralgia
    • Arthritis
    • Uveitis
  • A colonoscopy with mucosal biopsy with mononuclear infiltrates:
    • Collagenous colitis is characterized by a colonic subepithelial collagen band >10 micrometers in diameter
    • Lymphocytic colitis is characterized by ≥20 intraepithelial lymphocytes (IEL) per 100 surface epithelial cells
Congenital chloride diarrhea + - Neonate + + - -
  • Hyponatremia
  • Hypochloremia
  • Metabolic alkalosis
  • History of polyhydramnios
  • Mutations in the SLC26A3 gene
    • Encodes for an epithelial anion exchanger
  • Excessive fecal secretion of chloride
Congenital sodium diarrhea + - Neonate + + - - S/E:
  • Alkaline
  • Fecal sodium concentrations

Serum:

  • Metabolic acidosis
  • Hyponatremia
  • May be associated with choanal or anal atresia
Glucose-galactose malabsorption + - Infancy + +/- + Abdominal tenderness
  • severe life-threatening diarrhea
  • Dehydration
  • Symptomatic as long as the diet includes lactose or its hydrolysis products, glucose and galactose
  • positive glucose breath hydrogen test + normal intestinal biopsy
Abetalipoproteinemia - + Infancy + + + Abdominal distention

Impaired visual acuity and visual field defects

Dysarthria

Low triglyceride

Low total cholesterol levels

Acanthocytes

Low vitamin E levels

Clumsiness

vision impairment

Ataxia

  • autosomal recessive disorder caused by mutations encoding the microsomal triglyceride transfer protein (MTP)
Clinical findings and low triglyceride and cholesterol level
Primary bile acid malabsorption + +/- Childhood Adolescents + + +/- - Disease hetergenicity lead to varying presentation from chronic diarrhea without significant fat malabsorption to severe watery diarrhea and steatorrhea with malnutrition
  • genetic defects in SLC10A2 (solute carrier family 10 member 2 gene)
  • Total and specific bile acids from stool
  • Gamma emitter selenium-75-homocholic acid taurine (SeHCAT)
Cause Diarrhea Age of onset History Physical exam Lab findings Additional finding Cause Gold standard dignosis
Watery Fatty Weight loss FTT Abdominal pain
Gastrinoma (Zollinger-Ellison syndrome) + - between the ages of 20 and 50 + +/- + Mild to moderate upper abdominal tenderness Positive secretin stimulation test

Elevated serum chromogranin A

heartburn Gastrin producing tumor mainly in duodenum elevated basal or stimulated serum gastrin more than 1000 pg/mL

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