Malabsorption Syndromes in Children

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Questions and Answers

What clinical finding is characterized by pale and thin hair?

Color and texture of hair (correct)

Pallor

Edema

Diaper rash

Which clinical finding is associated with the development of rachitic rosaries?

Beading of costachondral junctions (correct)

Loss of subcutaneous fat

Cheliosis

Clubbed fingers

Which of the following is NOT part of the laboratory findings related to nutritional assessment?

Examination of skin lesions (correct)

CBC and reticulocyte count

Serum electrolytes evaluation

Liver and kidney function tests

What symptom could indicate a deficiency of iron and vitamins?

Easy bruisability Signup and view all the answers

Which clinical finding could indicate a delay in the development of secondary sexual characteristics?

Muscle wasting Signup and view all the answers

What is characterized by abnormal growth patterns and developmental delays in children?

Delay in development of secondary sex characteristics Signup and view all the answers

Which specific laboratory test assesses the absorption of dietary fat?

Quantification of fat excretion in a 3-day stool sample Signup and view all the answers

Which of the following is a common gastrointestinal symptom indicating potential nutritional deficiencies?

Diarrhea with mucus Signup and view all the answers

What are the classical triad symptoms associated with malabsorption syndromes?

Chronic diarrhea, abdominal distention, failure to thrive Signup and view all the answers

Which of the following conditions can lead to digestive dysfunction affecting absorption?

Chronic pancreatitis Signup and view all the answers

What factor primarily contributes to absorptive dysfunction in malabsorption syndromes?

Decreased mucosal surface area Signup and view all the answers

Which enzyme deficiency is associated with defects in intestinal brush border function?

Enterokinase deficiency Signup and view all the answers

How does impared production or flow of biliary secretions impact digestion?

Impairs lipid digestion Signup and view all the answers

What indicates a failure to thrive in a child as per the anthropometric measurements described?

Height at 25th percentile and weight at 10-25th percentile Signup and view all the answers

Which of the following is NOT a factor affecting digestive and absorptive functions?

Excessive protein intake Signup and view all the answers

Which of the following diseases is an example of a malabsorption syndrome?

Celiac disease Signup and view all the answers

What is the primary offending substance in celiac disease that causes harm to the intestinal mucosa?

Gliadin Signup and view all the answers

Which laboratory finding is typically associated with celiac disease due to its impact on nutrient absorption?

Decreased serum albumin Signup and view all the answers

Which population has a higher risk of developing celiac disease?

First degree relatives of affected individuals Signup and view all the answers

What is the prevalence range of celiac disease in healthy Turkish school children as indicated by serology tests?

2.4% - 4.7% Signup and view all the answers

What serological test is primarily used to identify tissue damage caused by gliadin in celiac disease?

Tissue transglutaminase antibodies (tTG) Signup and view all the answers

Which clinical symptom is NOT typically associated with celiac disease?

Hyperactivity Signup and view all the answers

Which of the following is NOT a common laboratory finding in patients with celiac disease?

Increased ferritin levels Signup and view all the answers

Which condition is associated with celiac disease that involves the malabsorption of trace elements?

Delayed puberty Signup and view all the answers

What is the lifetime management approach for individuals diagnosed with celiac disease?

Life long strict gluten-free diet Signup and view all the answers

Which of the following criteria is essential for a no-biopsy diagnosis of celiac disease in children?

TGA-IgA values ≥10 times the upper limit of normal Signup and view all the answers

What is a common sign of cow's milk protein intolerance that may appear shortly after birth?

Intrauterine sensitization Signup and view all the answers

What is the expected prognosis for children with cow's milk protein allergy by the age of 2 years?

60-75% of children will outgrow their allergy Signup and view all the answers

What is one of the major allergens found in cow's milk that contributes to cow’s milk protein intolerance?

Beta-lactoglobulin Signup and view all the answers

Which of the following statements about gluten-free diet therapy for celiac disease is true?

Vitamin and mineral supplementation may be necessary during initial dietary adjustment Signup and view all the answers

What is the role of gut-associated lymphoid tissue (GALT) in food allergies?

GALT responds minimally to allergens during the newborn period Signup and view all the answers

Which of the following are considered typical findings in a distal duodenal biopsy for a symptomatic child with celiac disease?

Increased intraepithelial lymphocyte (IEL) count Signup and view all the answers

Study Notes

Malabsorption & Malabsorption Syndromes in Children

Malabsorption is a digestive disturbance, specifically the failure of the digestive system to absorb nutrients (carbohydrates, proteins, lipids) across the intestinal lining.
Malabsorption syndromes encompass various diseases leading to a classic triad: chronic diarrhea, abdominal distention, and failure to thrive (FTT). FTT indicates malnutrition and delayed puberty.
The lecture outline details definitions, normal digestive/absorptive function, clinical/laboratory findings of malabsorptive syndromes, and specific diseases like celiac disease and food protein allergy (cow's milk allergy).

Definitions

Intestinal malabsorption: Disturbance of the absorptive mechanisms for dietary substances (carbohydrates, proteins, lipids) across the intestinal mucosa.

Outline of the Lecture

Definitions of malabsorption and related concepts
Normal digestive and absorptive functions
Clinical and laboratory findings in malabsorptive syndromes
Specific diseases (celiac disease, food protein allergy)

Pathophysiology of Malabsorption

The detailed mechanisms of malabsorption for each macronutrient are discussed.

Carbohydrates

Starch and Disaccharides are broken down by salivary amylase and pancreatic amylase. Brush border enzymes in the small intestine (dextrinase, glucoamylase, lactase, maltase, and sucrase) further digest the sugars to their constituent monosaccharides (galactose, glucose, and fructose).

Proteins

Proteins are broken down by pepsin in the stomach and pancreatic enzymes (trypsin, chymotrypsin, carboxypeptidase) in the small intestine to amino acids, dipeptides, and tripeptides. Brush border enzymes break down dipeptides and tripeptides into single amino acids in the small intestine.

Lipids

Unemulsified triglycerides are initially acted upon by lingual lipase (initially active in infancy), followed by gastric lipase. Emulsification by the detergent action of bile salts is crucial. Pancreatic lipases further break down the emulsified fat. Monoglycerides and fatty acids form micelles to be absorbed.

Factors Affecting Digestive and Absorptive Function

Pancreatic insufficiency (e.g., cystic fibrosis, chronic pancreatitis, Schwachman-Diamond syndrome)
Biliary secretion disorders (e.g., biliary atresia)
Defects in intestinal brush border enzymes (e.g., disaccharidase deficiency, aminopeptidase deficiency)

Absorptive Dysfunction

Decreased mucosal surface area (e.g., infection, infestation, cow milk allergy)
Insufficient small bowel length

Disturbed Anatomy/Motility of GIT

Disruption of normal propulsive movements, food mixing with pancreatic and biliary secretions, and predisposition to bacterial overgrowth can impair absorption.

Clinical Findings

Loss of subcutaneous fat tissue and muscle wasting (anthropometric measurements)
Pale and thin hair
Pallor
Cheilosis (fissures at the corners of the mouth)
Loss of papillae on the tongue
Beading of costochondral junctions
Enlarged metaphyses
Abdominal distention (bloating, gas)
Diaper rash/dermatitis

Additional Clinical Findings

Edema
Bruises
Clubbing of fingers and toes
Delayed development of secondary sexual characteristics
Uneven upper and lower extremity size

Celiac Disease

Most common cause of childhood malabsorption
Offending agent: Gliadin in wheat, barley, and rye
Gliadin damages intestinal mucosa in susceptible individuals (immune-mediated).
Associated with other autoimmune diseases
Prevalence: 1/300-1/10,000

Prevalence of Celiac Disease in Other Autoimmune Conditions

Type 1 Diabetes Mellitus: 3.5%-10%
Thyroiditis: 4%-8%
Arthritis: 1.5%-7.5%
Autoimmune liver diseases: 6%-8%
Sjögren's syndrome: 2%-15%
Idiopathic dilated cardiomyopathy: 5.7%
IgA nephropathy: 3.6%

Treatment

Life-long gluten-free diet
Removal of lactose-containing foods for a few weeks/ months.
Vitamin and mineral supplementation (for rapid growth)

Food Protein Intolerance

Gut mucosa limits penetration of foreign antigens.
Gut-associated lymphoid tissue (GALT) mounts a rapid response to pathogens, particularly in infants and newborns.
Exclusive breastfeeding and late introduction of solid foods may reduce food allergies.
Cow’s milk protein intolerance (CMA) prevalence is approximately 0.3%-7%.

Diagnosis of Food Allergies

Signs and symptoms of atopy (e.g., atopic dermatitis)
Family history of atopic diseases and allergies
Elevated serum IgE or eosinophils
Specific IgE testing, skin prick testing
Elimination diet
Small intestinal/colonic biopsies – gold standard

Treatment Recommendations

Strict avoidance of offending foods
Use hypoallergenic formulas (to provide essential nutrition during the elimination period)
Delayed introduction of solid foods (beyond 6-12 months)
Elimination diet until sensitivity subsides.

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Description

This quiz explores malabsorption and malabsorption syndromes in children, detailing their definitions, symptoms, and clinical findings. Learn about conditions such as celiac disease and food protein allergies, along with the impact on nutrition and growth. Perfect for understanding how these syndromes affect children's health.