Investigation of the frequency of carbohydrate malabsorption in children with chronic diarrhea

Diarrhea is one of the main causes of childhood morbidity and mortality in developing countries. Since chronic diarrhea is more dangerous to the child's nutrition and growth than acute diarrhea, follow-up issues of chronic diarrhea have taken precedence. When we look at the causes of chronic diarrhea in children, one of the most common causes is disaccharidase enzyme deficiencies, which are included in the main title of carbohydrate malabsorption. Our aim is to diagnose the patients who applied to the outpatient clinic with the complaint of diarrhea for more than 4 weeks by investigating the etiology and to show the frequency of sucrase-isomaltase enzyme deficiency, which is one of the carbohydrate malabsorptions in this geography. The study was conducted with the participation of patients (n:100) who applied to Gaziantep University Medical Faculty Hospital Pediatric Gastroenterology out patient clinic with diarrhea that lasted longer than 4 weeks and who had not been diagnosed as the cause of diarrhea before. Reductant in stool from all patients, steatocrit, sugar chromatography together with hemoglobin (Hb), platelet count, white blood cell, alanine aminotransferase (ALT), aspartate aminotransferase (AST), albumin, glucose, sodium (Na), potassium (K), chlorine (Knowledge of Cl), calcium (Ca), magnesium (Mg), phosphorus (P), vitamin B12, ferritin, folate, vitamin D tests, and lipid profile, immunoglobulins, sweat test information for exclusion in differential diagnosis were used. While the rate of those with < 3p weight percentile value in stool positive patients was 37.2 %, it was found that this rate was 17.5 % in patients with negative reductant material, and the difference was quite close to the level of statistical significance (p=0.065). Similarly, while the rate of those with < 3p height percentile value was 32.6 % in patients with positive stools for reducing substances, this ratio was 21.1 % in patients with negative stools, and the difference was found to be close to the level of statistical significance (p=0.194). It was determined that CSID positivity and ex rates were 4.7 % and 7.0 % in patients with stool positive reductant material, while these rates were 5.6 % and 8.8 % in negative patients, and the differences were not significant (p=0.841 and p=0.743, respectively). It was observed that Ca, P, Mg values were statistically significantly decreased in patients with ex (p=0.011, p=0.042, p=0.004, p=0.016, respectively), albumin, folate, vitamin D levels also showed a near-significant decrease. (p=0.063, p=0.070 and p=0.086, respectively), on the other hand, ferritin and Cl values were found to be significantly increased in those with ex (p=0.030). While mutations were detected in the SI (NM_001041) gene in all 5 patients, 1 patient was homozygous and the other 4 patients were heterozygous. It was determined that 5 patients with CSID positivity were also alive. Both clinical studies and molecular/genetic studies have shown that congenital sucrase-isomaltase enzyme deficiency is a more common disease than previously believed, and that genetically modified intestinal sucrase-isomaltase enzyme digestion can potentially be hidden in cohorts of inflammatory bowel diseases, chronic non-specific diarrhea and it may even be responsible for a spectrum of clinical phenotypes such as dyspepsia