Congenital sucrase-isomaltase deficiency (clinical case)

Abstract

Congenital sucrase-isomaltase deficiency (CSID) is a fermentopathy, the frequency of which reaches 10% among patients with gastrointestinal symptoms. As a result of mutations in the gene responsible for the synthesis of sucrase and isomaltase enzymes, the activity of these enzymes is disrupted, which leads to a violation of the breakdown of sucrose and starch in the lumen of the small intestine. The accumulation of undigested carbohydrates in the intestines is the cause of osmotic diarrhea, and their fermentation by colon bacteria leads to the release of large amounts of hydrogen and other gases, which is accompanied by significant bloating and flatulence. The main methods for diagnosing pathology are breath tests and genetic studies, and the main approaches in management are replacement therapy with sucrosidase and diet therapy with the exclusion of food sources of sucrose and starch.

Aim - to highlight the current knowledge about CSID and the possibility of differential diagnosis of this pathology based on a clinical case.

The article presents a clinical case of a 5-year-old child who was hospitalized with symptoms of abdominal discomfort, flatulence, bloating, watery diarrhea, impaired physical and psychomotor development, thrombocytopenia and a decrease in pancreatic elastase-1. In the process of examining the child (analysis of complaints and anamnestic data, physical and laboratory-instrumental examination, genetic testing), the diagnosis of CSID was verified. Against the background of the prescribed diet therapy, the general condition of the patient improved, the growth rate normalized and the weight index improved significantly, the gastrointestinal symptoms disappeared, the frequency and consistency of stools, as well as the index of pancreatic elastase-1, were normalized.

Conclusions. CSID is enzymopathy that occurs in 10% of patients with gastrointestinal symptoms. Due to the similarity of its typical clinical manifestations to the symptoms of a number of other pathological conditions, such as irritable bowel syndrome, inflammatory bowel disease, small intestine bacterial overgrowth syndrome, gluten-dependent diseases, as well as other enzymopathies, its diagnosis is often difficult and untimely. Awareness of pediatricians, gastroenterologists and family doctors in features of the course of the disease, instrumental diagnosis, differential diagnosis and management of CSID are the key to timely diagnosis and successful treatment of such patients.

The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.

No conflict of interests was declared by the authors.