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MALABSORPTİON SYNDROME

MALABSORPTİON SYNDROME. Prof. Dr. Tufan KUTLU. Malabsorption.

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MALABSORPTİON SYNDROME

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  1. MALABSORPTİON SYNDROME Prof. Dr. Tufan KUTLU

  2. Malabsorption • Malabsorption can be defined as subnormalintestinalabsorption of dietaryconstituents, andthusexcessiveloss of nutrients in thestool; it may be dueto a digestivedefect, a mucosalabnormality, orlymphaticobstruction.”

  3. Characteres of stools in childhood 0-6 months Breast milk 1-12/day yellow to braun pH: 5 Formula 1-7/day yellow to braun pH: 7 6 months-1 year2-3/daybraun >1 yearas adult 5-10g/kg/day

  4. Diarrhea • Increase in the number of stools or a decrease in their consistency • Constipation • Decrease in the number of stools or an increase in their consistency

  5. Malabsorption syndrome • Chronicdiarrhea • Protuberant abdomen • Vomiting • Weigthloss • Shortstature • Anorexia..

  6. Carbohydrates Starch 50 % Sucrose 20-40 % Lactose 20-40 % Monosaccharides Glycose Galactose Fructose Enzymes Salivaryamylase Pancreaticamylase Disaccharidase Sucrase-isomaltase Glucoamylase Lactase Digestion of carbohydrates

  7. Carbohydratemalabsorption • Sucrase-izomaltasedeficiency • Primarylactasedeficiency • Lateonsetlactasedeficiency • Glycose-galactosemalabsorption • Secondarydisaccharidasedeficiency

  8. Digestion of proteins • Gastric asid • Enterokinase • Pancreatic proteases

  9. Protein malabsorption • Kongenital enterokinase deficiency • Pancreatic enzyme deficiency • Aminoacid transport defects

  10. Digestion of lipids • Gastric lipase • Pancreatic lipase • Bile acids • Absorption

  11. Steatorrhea • Pancreaticdeficiency • Congenital • Cysticfibrosis • Shwachman-Diamondsyndrome • Johanson-Blizzardsyndrome • Pearson’ssyndrome • Acquired • Chronicpancreatitis

  12. Steatorrhea • Bile aciddeficiency • Diminution of synthesis in theliver • Bile ductatresia • İncrease of bacterialdeconjugation • Diminution of ilealreabsorption (Crohn’sdisease, ilealresection, short gut) • Drugs (cholestyramine)

  13. Steatorrhea • Abetalipoproteinemia • Retinitispigmentosa • Neurologicsymptoms • Achantocytosis • Cholesterolverylow • Treatment: no fat, MCT, vitamine ADEK supplementation • Hypobetalipoproteinemia

  14. Steatorrhea • Intestinallymphangiectasia • Hypoalbuminemia • Lymphopenia • Edema • Mucosalabsorptiondisorders • Celiacdisease • Short gut

  15. Gastrointestinal diseases associated with maldigestion and malabsorption

  16. Gastrointestinal diseases associated with maldigestion and malabsorption

  17. Gastrointestinal diseases associated with maldigestion and malabsorption

  18. Gastrointestinal diseases associated with maldigestion and malabsorption

  19. Gastrointestinal diseases associated with maldigestion and malabsorption

  20. Gastrointestinal diseases associated with maldigestion and malabsorption

  21. Chronic diarrhea Rectal bleeding Meteorismus Abdominal pain Weigth loss Failure to thrive Constipation Tenesmus Vomiting Anorexia Pallor Weakness Fever Geophagia Presenting symptoms

  22. Weigth loss Short stature Protuberant abdomen Ascites Edema Hepatomegaly Splenomegaly Clubbing Pallor Gingivalhipertrophy Aphthousmouthulcers Arthritis Eritemanodosum Uveitis, episcleritis Physical findings

  23. Diagnostic studies in the evaluation of maldigestion and malabsorption I • Stool examination for blood, leukocytes, reducing substances, C. difficile toxin, ova and parasites and cultures for infectious bacterial pathogens • Complete blood count, serum electrolytes, blood urea nitrogen, creatinine, calcium, phosphorus, albumin, total protein • Urinalysis and culture

  24. Diagnostic studies in the evaluation of maldigestion and malabsorption II • Sweat chloride test • Breath analysis • D-Xylose test • Serum carotene, folate, B12, and iron levels • Fecal alpha-1-antitrypsin level • Fecal fat studies or coefficient of fat absorption studies

  25. Diagnostic studies in the evaluation of maldigestion and malabsorption III • Fat-soluble vitamin levels: A, D, E, K • Contrast radiographic studies: upper gastrointestinal series, or barium enema • Gastroscopie/colonoscopie • Small intestinal biopsy for histology, and mucosal enzyme determination

  26. Antibodies • Anti-gliadin ab • Anti-endomisium ab • Anti-transglutaminase ab • Autoantibody • p-ANCA, ASCA

  27. Sweat test indications • Failure to thrive • Chronic diarrhea • Rectal prolapsus • Neonatal cholestasis • Cirrhosis • Pancreatitis • Recurrent pulmonary infections • Nasal polyps • Meconium ileus • Positive family history

  28. Disorders with sweat test positivity • Cystic fibrosis • Adrenal insufficiency • Protein-calorie malnutrition • Neonatal cholestasis • G-6-PD deficiency • Pancreatitis • Glycogen storage diseases • Hypoparathyroidism • Hypothyroidism • Nephrogenic diabetes insipidus • Ectodermal dysplasia

  29. Causes of villous atrophy in infants and children • Peptic duodenitis • Celiac disease • Acute gastroenteritis • Cow’s milk and soy protein intolerance • Eosinophilic gastroenteritis • Immunodeficiency: congenital, acquired, AIDS • Crohn’s disease • Protein-calorie malnutrition • Total parenteral nutrition • Bacterial overgrowth or stasis • Microvillus inclusion disease • Autoimmune enteropathy • Giardiasis

  30. Diagnostic biopsy Celiac disease Congenital microvillous atrophy Immunodeficiency Eosinophilic gastroenteritis Crohn’s disease Abetalipoproteinemia Chylomicron retention disease Lymphangiectasia (mucosal type) Diagnostic or non diagnostic Autoimmun enteropathy Crohn’s disease Tropical sprue Isolated IgA deficiency Lymphangiectasia Giardiasis Nonspesificchanges Milkor soy protein intolerance Intractablediarrhea AIDS Malnutrition Drugandradiation-inducedlesions Contaminatedsmall-bowelsyndrome Graft-versus-hostdisease Relative value of a small-bowel biopsy

  31. Specialized studies • Schilling test • Serum/urine bile acid determination • Endoscopic retrograde pancreatography • Provocative pancreatic secretion testing

  32. Cow’s or soy milk intolerance Glucose-galactose malabsorption Sucrase-isomaltase deficiency Congenital lactase deficiency Necrotizing enterocolitis Infections Cystic fibrosis Shwachman disease Abetalipoproteinemia Chylomicron retention disease Primaryimmunodeficiency Shortbowelsyndrome Intestinallymphangiectasia Acrodermatitisenteropathica Microvillousinclusiondisease Congenitalchloridediarrhea Congenital bile salt malabsorption Congenitalenterokinasedeficiency Causes of chronic diarrhea in neonates

  33. CELİAC DİSEASE

  34. Celiac disease • Celiac disease (CD), also called gluten-sensitive enteropathy, is a permanent intestinal intolerance to dietary wheat gliadin and related proteins that produces mucosal lesions in genetically susceptible individuals

  35. Historical background • Gallen, 250 AD, describedceliacdisease • SamuelGee, 1888, firstdescription of CD • Dicke, 1950, role of wheatandryeflour in thepathogenesis of CD • Paulley, 1954, firstbiopsy (surgical) • Sakula ve Shiner, 1957, peroralintestinalbiopsy • ESPGHAN criteria, 1970, 1979, 1990, 2012

  36. Genetics of celiac disease • Prevalence of CD among first-degree relatives of CD patients is approximately 10 % • 75 % of monozygotic twins have been found concordant with the disaese • Association of CD (95 % in CD, 20-30 % in controls) with the HLA DQ α/β heterodimer encoded by the DQA1*0501 and the DQB1*0201 genes

  37. Epidemiology • The reported prevalence of symptomatic CD is 1 in 1000 live births (1/250 – 1/4000) • The prevalence of asymptomatic CD is 1/200 (1/100-1/300)

  38. Pathogenesis • CD is an immunologically mediated small intestinal enteropathy. • The mucosal lesions shows features suggesting both humoral- and cell-mediated immunologic overstimulation. • All the evidence available suggests a gluten-dependent activation of mucosal immunity in CD.

  39. Pathology • Partialto total villousatrophy • Elongatedcrypts • Increasedmitoticindex in thecrypts • Increasedintraepiteliallymphocytes • Infiltrations of plasmacellsandlymphocytes as well as mastcells, eosinophils, andbasophils in thelaminapropria

  40. Clinical presentation • Vomiting • Anorexia • Chronicdiarrhea • Weigthloss • Irritability • Failuretothrive • Abdominaldistention • Musclewasting

  41. Clinical presentation • Shortstature • Delayedpuberty • Anemia • Rickets-osteomalasia • Jointcomplaints • Cryptogenetichepatitis • Epilepsy

  42. Cerrahpaşa experience;Age at the time of diagnosis

  43. Symptoms • Diarrhea: 85,5 % • Abdominaldistention: 41 % • Weigthloss: 27,7 % • Failuretothrive: 20,5 % • Vomiting: 19,3 % • Anorexia: 18,1 % • Abdominalpain: 13,2 % • Constipation: 3,6 %

  44. Physical findings • Height < 3. p. : 60,7 % • Weight < 3. p. : 66,7 % • Hepatomegaly: 38,1 % • Clubbing: 17,9 % • Ascites: 8,3 % • Edema: 4,8 %

  45. Laboratory findings • Anemia: 50 % • Trombocytosis: 64.7 % • Low Fe: 60 % • Low ferritin: 78,4 %

  46. Associated diseases • Dermatitis herpetiformis • Down syndrome • Autoimmune diseases • Thyroid diseases • Addison’s disease • Sarcoidosis • Insulin-dependent diabetes mellitus • Autoimmune hepatitis • Alopecia…

  47. Down syndrome-celiac disease • The prevalence of celiac diseae in Down syndrome: 1 - 18 %

  48. Insulin-dependent diabetes mellitus-celiac disease • The prevalence of celiac diseae in insulin-dependent diabetes mellitus: 1,5 - 8 %

  49. Laboratory findings • Anemia • Trombocytosis • Folic acid deficiency • B12 deficiency • Hypoproteinemia • Hypertransaminasemia

  50. Diagnosis • Antigliadin antibodies • Anti-endomysium antibodies • Anti tissue transglutaminase antibodies • Small intestinal biopsy • Response to gluten-free diet

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