Malabsorption Syndromes in Children

A disturbance in the absorption of dietary nutrients (carbohydrates, proteins, lipids) across the intestinal lining.

Conditions causing a triad of symptoms: chronic diarrhea, abdominal bloating, and failure to thrive (FTT).

A condition in children where inadequate nutrition or growth leads to poor development.

Impaired production of digestive enzymes by the pancreas, affecting nutrient breakdown.

Issues with the liver or gallbladder affecting the production or flow of bile, critical for lipid digestion.

Problems with the enzymes lining the small intestine that break down nutrients.

A reduced surface of the small intestine, making it less effective at absorbing nutrients.

Insufficient length of the small intestine affects its ability to absorb nutrients adequately.

Beading of the costochondral junctions, which are the points where the ribs connect to the breastbone, is known as "Rachitic Rosary". This is a classic sign of rickets.

A horizontal indentation or groove that appears just below the rib cage. It's caused by the inward pulling of the diaphragm as the child tries to breathe, due to weakened rib cage muscles.

Enlarged metaphysis: The end of a long bone where growth occurs is known as the metaphysis. In rickets, this area becomes enlarged, often resembling a club-like shape, due to impaired bone mineralization.

A detailed history of diet is crucial. This includes breastfeeding, solid foods introduced, and the relationship between food and symptoms. Assessment of growth patterns, such as weight gain and height, is essential.

Abdominal distention (bloating), abdominal pain, vomiting, changes in stool consistency, frequency, and foul smell, and presence of blood or mucus in stool are all suggestive of malabsorption.

Hematologic evaluation: CBC, reticulocyte count, and ESR. Biochemical evaluation: serum electrolytes, serum proteins (TP, Alb, serum Igs), Fe, TIBC, ferritin, folic acid, vitamin B12, Ca, P, ALP, Vitamin D3 level, liver and kidney function tests, sweat test.

Stool examination is crucial to identify the cause of malabsorption. This includes culture, microscopic examination for parasites (O&P) and for fat, red blood cells, and white blood cells, stool pH, reducing substances, tests for occult blood, and quantification of stool fat in a 3-day sample.

Quantifying fat excretion in a 3-day stool sample and microscopic examination of the stool for fat are specific tests to assess fat absorption in cases of suspected malabsorption.

Celiac disease is a condition where eating gluten, a protein found in wheat, barley, and rye, damages the small intestine in genetically susceptible individuals. It's the most common cause of malabsorption in children.

The exact cause is unknown, but it's thought to be an autoimmune disease triggered by gluten. The body's immune system attacks the small intestine, leading to damage.

Common symptoms include chronic diarrhea, abdominal pain, bloating, constipation, iron deficiency anemia, failure to thrive, weight loss, and short stature.

Blood tests for antibodies like anti-tissue transglutaminase (tTG), anti-endomysium (EMA), and antigliadin (AGA) are used to detect the presence of antibodies against gluten.

Celiac disease is strongly linked to genetics. If a family member has celiac disease, it's more likely for other family members to develop it.

Avoiding gluten is the only treatment for celiac disease. A gluten-free diet allows the damaged intestinal lining to heal and prevents further damage.

The prevalence of celiac disease varies. In some studies, it's found in 1 out of 300 to 1 out of 10,000 individuals.

Celiac disease is associated with several other autoimmune diseases, suggesting a shared underlying genetic predisposition.

Celiac disease is diagnosed based on symptoms, biopsy findings, and antibody tests. Typical symptoms, total villous atrophy, and positive IgA anti-tissue transglutaminase (TGA) antibodies confirm the diagnosis.

The primary treatment for celiac disease is a lifelong strict gluten-free diet. It involves avoiding all products containing wheat, barley, and rye.

Cow's milk protein intolerance (CMPI) is an allergic reaction to proteins in cow's milk. Symptoms include vomiting, diarrhea, and eczema.

CMPI affects 0.3-7% of infants, with an average of 2.5%. This means a significant number of babies may experience milk allergy.

Most children outgrow CMPI by age 3. 45-50% outgrow it by 1 year, 60-75% by 2 years, and 75-90% by 3 years.

Food intolerance is a digestive issue due to lack of enzymes, while food allergy involves an immune response.

Food allergies are diagnosed based on clinical symptoms and elimination diets. Skin prick tests and blood tests can also help confirm the diagnosis.

Infants have immature gut mucosa and GALT, making them more susceptible to food protein intolerance.