Introduction. Celiac disease is an immuno-mediated systemic disease, which is defined as intolerance to gluten and the corresponding prolamins in the mucous membrane of the small intestine in genetically predisposed children, and is characterized by the development of atrophic enteropathy. The seronegative form of celiac disease, in which serological markers are not determined, but the development of appropriate symptoms and the effect of gluten-free diet (GFD) is observed, still remains a diagnostic and therapeutic dilemma.Objectives. Analysis of a clinical case of a child with seronegative celiac disease (SNCD).Results. The disease in a young child before the final diagnosis was severe due to chronic diarrhea and severe flatulence. The girl received outpatient treatment at the place of residence several times with a short-term positive effect, the condition worsened in dynamics: the child lost weight, stopped walking. At the age of 5, she was hospitalized in the gastroenterology department of the Republican Specialized Scientific and Practical Medical Center of Pediatrics, where, on the bases of normal values of antibodies to tissue transglutaminase and total IgA and IgG (анти-tTG IgA and G), changes in biopsies of the mucosa of the postbulary department of the duodenal bulb, characteristic of Marsh 3, and the presence of HLA DQ2, seronegative celiac disease was supposed to diagnose. The girl was prescribed GFD, symptomatic drug therapy was performed. The dynamics of the condition has improved. After 6 months, at the second visit, there were no gastrointestinal symptoms, physical development corresponded to age, what could help to confirm diagnosis of seronegative celiac disease.Conclusions. This clinical case in a girl with a classic form of celiac disease and severe atrophy of the mucosa of the bulbous small intestine, HLA DQ2, was accompanied by normal values of анти-tTG and total IgA. Treatment of a gluten-free diet was very effective: the girl fully compensated for weight deficiency and laboratory tests.
The aim of the study – to analyze the clinical case of a child with distal intestinal obstruction syndrome in cystic fibrosis. A 9.5 year old patient was admitted to the Gastroenterology Department of the Republican Specialized Scientific and Practical Center of Pediatrics with complaints of an increase in abdominal circumference, increased peristalsis, weakness, lethargy, swelling in the limbs, loose stools, and weight loss. From the anamnesis: from the age of 6 years it was observed periodic vomiting, not associated with food intake. At the age of 8 years, the condition worsened, bloating joined the vomiting. At the place of residence, the diagnosis was made “Acute intestinal obstruction. Volvulus of the sigmoid colon”. Over the next 6 months, the condition was relatively satisfactory, and then stool disorders began – 3–4 times a day and bloating. Considering the presence of steatorrhea, changes in the pancreas on ultrasound and MSCT, the child was referred to a geneticist, the result of a sweat test was 86.0 mEq/l. The diagnosis was made: Cystic fibrosis, mixed form. Syndrome of distal intestinal obstruction. Partial intestinal obstruction. Severe PEI, celiac disease and HIV were excluded. On the background of the therapy, the child’s condition improved relatively. Within a month after discharge, the condition was satisfactory, and then worsened again. After 3 months, the girl was re-hospitalized with the same complaints. After consulting the surgeons, recommendations were given to perform the operation due to the appearance of signs of partial lower intestinal obstruction, but the relatives signed a voluntary refusal of the operation, the child was taken home against receipt. The girl was discharged with the final diagnosis: Cystic fibrosis, mixed form, severe course. Syndrome of distal intestinal obstruction. Partial lower intestinal obstruction. Syndrome of exudative enteropathy, severe PEI. The girl died 2 weeks after discharge. Distal intestinal obstruction syndrome (DIOS) may be misunderstood by those who are not familiar with cystic fibrosis. Pediatric gastroenterologists, surgeons should be alert when this condition is detected in combination with other symptoms indicating cystic fibrosis.
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