Malabsorption & Malabsorption Syndromes in Children PDF

MALABSORPTION & MALABSORPTION SYNDROMES in CHILDREN Dr. Deniz ERTEM  OUTLINE OF THE LECTURE Definitions Normal digestive and absorptive function Clinical and laboratory findings of malabsorptive syndr. Specific Diseases Celiac disease Food protein al...

MALABSORPTION & MALABSORPTION SYNDROMES in CHILDREN Dr. Deniz ERTEM  OUTLINE OF THE LECTURE Definitions Normal digestive and absorptive function Clinical and laboratory findings of malabsorptive syndr. Specific Diseases Celiac disease Food protein allergy (cow milk allergy) Definition: Intestinal malabsorption: disturbance of the digestive disturbance of absorptive sequence of any dietary substance (CHO / protein / lipids) across the intestinal mucosa Malabsorption syndromes include several diseases resulting in classical triad of: o chronic diarrhea o abdominal distention o failure to thrive = FTT (malnutrition/delayed puberty) PATHOPHYSIOLOGY OF MALABSORPTION Carbohydrates  Proteins Food stuff Enzyme source Site of action Food stuff Enzyme source Site of action FACTORS AFFECTING DIGESTIVE AND ABSORPTIVE FUNCTION  I) Digestive dysfunction o Pancreatic exocrine deficiency o CF, chronic pancreatitis, Schwachman Diamond syndr o Impaired production /flow of biliary secretions o BA, cirrhosis, diseases of gall bladder etc. o Defect in intestinal brush border enzymes o Enterokinase def., disaccaridase def., aminopeptidase deficiency II) Absorptive dysfunction Diseases of small intestine or conditions affecting its normal function - Decreased mucosal surface area (infection/infestation, cow milk allergy, GSE) - Insufficient small bowel length III) Disturbed anatomy/motility of GIT May interfer with: o normal propulsive movements o mixing of foods with pancr. and biliary secretions o predispose to bacterial overgrowth e.g. dismotility or disturbed GIS motility  CLINICAL FINDINGS Loss of subcutaneous fat tissue / muscle wasting (antropometric measurements) Current antropometric measurements reveals the current problem Height of this 33 months  of girl is at 25th percentile Her weight percentile is  btw 10-25th percentile i.e. her weight is lower than her height percentile This toddler is a bit small and thin Is this the case for 33 months?                  CLINICAL FINDINGS o Loss of subcutaneous fat tissue / muscle wasting (antropometric measurements) o Color and texture of hair (pale and thin) o Pallor o Cheliosis o Loss of papilla over the tongue o Beading of costachondral junctions o Enlarged metaphysis RibBeading.JPG (17552 bytes) beading of costachondral junctions= rachitic rosaries Harrison groove enlarged metaphysis cow181  CLINICAL FINDINGS o Loss of subcutaneous fat tissue / muscle wasting (antropometric measurements) o Color and texture of hair (pale and thin) o Pallor o Cheliosis o Loss of papilla over the tongue o Beading of costachondral junctions o Enlarged metaphysis o Abdominal distention (bloating, gas?) o Diaper rash / dermatitis  CLINICAL FINDINGS o Edema o Bruises o Clubbing o Delay in development of secondary sex characterictics  HISTORY o A detailed history of diet o Breast feeding o Solid foods o Relationship btw foods and symptoms o Assessment of growth o Abdominal distention, abdominal pain o Vomiting o Change in daily bowel movements o Stool consistency / frequency / foul smelling o Blood or mucus in stool o Diaper rash o Clinical signs of Fe and vitamin deficiency o Pallor, fatigue, easy bruisability, freq.fractures  LABORATORY FINDINGS o Hematologic evaluation o CBC, reticulocyte count, ESR o Biochemical evaluation o serum electrolytes, serum proteins (TP, Alb, serum Igs) o Fe, TIBC, ferritin, folic acid, vitamin B12 o Ca, P, ALP, Vitamin D3 level o Liver and kidney function tests o sweat test o Examination of stool o culture, microscopic examination for O& P o microscopic exam. of stool for fat- RBC-WBC o stool pH (N>5.5) and reducing substances o test for occult blood o quantification of stool fat in a 3-day sample  Specific tests showing nutrient absorption o Fat absorption o quantit. of fat excretion in a 3 day stool sample o microsc. exam. of stool for fat globules o Protein absorption o Total protein, albumin, serum Igs o Fecal alpha-1 antitrypsin excretion ( fecal loss) o CHO absorption o Stool pH (acidic pH of stool) o Positive reducing substance in stool o Test showing pancreatic insufficiency o Fecal elastase-1  CELIAC DISEASE (gluten sensitive enteropathy= GSE) o Most common cause of malabsorption in children o Offending substance: Gliadin o Gliadin found in wheat, barley, rye o Gliadin causes damage to intestinal mucosa in genetically susceptible individuals o Etiology not known but immunologically mediated disease o Ass. with several autoimmune diseases o Frequency: 1/300 – 1/10.000 o First degree relatives have a higher risk  Prevalence of celiac disease in healthy Turkish school children Am J Gastroenterol 2011 Aug;106(8):1512-7 62 cities, 139 school n= 20.190 school child. (6-17 yr) Tested for celiac serology (tTG IgA and AEA IgA) Endoscopic biopsy offered to all who are seropositive Results - tTG IgA and/or IgG (+) = 485 - 215/489 accepted endoscopy and biopsy Seroprevalence (i.e. positive serology in the inspected population) tTG Ig A (+) 2.4 % tTG IgA and EMA IgA (+) 1.06 % Prev. of biopsy proven CD 4.7 %o (1:212) Clinical Findings Laboratory Findings Chronic / recurrent diarrhea Anemia ---  levels of serum Fe, starting at 18-24 mo. of age ferritin, folic acid, vit.B12 delayed bone age / demineralization abdominal pain, distention of bones (low vit. D, high ALP) constipation  level of serum albumin iron def. anemia edema SEROLOGICAL TESTS (IgA and IgG) failure to thrive, wt loss o Antigliadin antibodies (AGA) o Anti endomysium Abs (EMA) signs of vitamin and trace element deficiency o Tissue transglutaminase Abs (tTG) o Deamidated gliadin peptide (DGP) short stature  Fe def. anemia Short stature Delayed puberty Freq. fractures no symptom / atypical symptoms Relatives of index case Type 1 DM no symptom  “ Criteria of ESPGHAN for celiac disease ” what is the best diagnotic fros celiac ? In a symptomatic child o Typical findings in distal duodenal biopsy o Clinical remission with GFD within a few months “Revised criteria of ESPGHAN for celiac disease” A no-biopsy approach → children with - TGA-IgA values ≥10 times the upper limit of normal with appropriate tests and - Positive endomysial antibodies (EMA-IgA) in a second serum sample. European society paediatric gastroenterology, hepatology and nutrition guidelines for diagnosing coeliac disease. Journal of Pediatric Gastroenterology and Nutrition 2020; 70: 141-156. total villous atrophy, crypt hyperplasia and increased IEL count normal histology of duodenum duodenal histology in Celiac disease Treatment of Celiac Disease Life long strict gluten free diet Removal of lactose containing foods for a few weeks Vitamin and mineral supplementation for the first few months (replenishment of stores during rapid growth)  FOOD PROTEIN INTOLERANCE Gut mucosa limits penetration of foreign Ags Gut associated lymphoid tissue (GALT) capable of mounting a rapid response to pathogens Gut mucosa and GALT are not mature during newborn period Exclusive breast-feeding Avoidance of Ags may prevent FA Late introduct. of solid foods  COW’s MILK PROTEIN INTOLERANCE what are the resposible allergs for caws milk alllergy Prevalence of CMA → 0.3-7% (≈2.5%)  lactoglobulin → most allergic Ag in cow’s milk soya and egg → other responsible allergens present in the first few months of life may present on the first few days of life (ie. Intrauterine sensitization) Prognosis of cow's milk protein allergy is good o 45-50% of children outgrow their allergy at 1 yr o 60-75% at 2 years and 75-90% at 3 years of age May persist beyond 3 yrs in children having strong family hx for atopy, presence of allergies to the other foods Diagnosis of food allergies Signs and symptoms of atopy (i.e. AD) Family history of atopic diseases High serum IgE level and eosinophil count in blood smear Elavated food specific IgE titer (reliable for type I) Skin prick testing (reliable for only IgE mediated allergies) o (+) or (-) SPT is not very reliable under 2 yr of age Non IgE mediated allergies (clinical history, dietary investig.) o presence of RBC-WBC (eosinophils) in stool o elimination diet for 2-4 wks or longer o small intestinal, colonic biopsies Gold standard for diagnosis → double blind, placebo-controlled food challenge (DBPFC)  Treatment how cam we treat a child with allergs o strict avoidance of offending food o use of hypoallergenic formulas o Semielemental formula (i.e. proteins are hydrolyzed --- small peptides) o Elemental formula (i.e. proteins are completely hydrolyzed to amino acid) o delayed introduction of solid foods ( > 6 months) o delayed introduction of allergic foods (egg, nuts, fish, sea food, kiwi, strawberry) beyond 12-24 mo. o elimination diet continued until the sensitivity has weaned