cystic fibrosis is a chronic, genetic, systemic disease, the pathogenesis of which is based on a defect in the apical transporter of chlorine ions, which leads to pathological thickening of mucus and its accumulation in the lumen of hollow organs, mainly bronchi, pancreas and others. Among genetic diseases, cystic fibrosis is quite common. In this regard, since 2007 in the territory of the russian Federation, all newborns are screened for cystic fibrosis. neonatal screening makes it possible to establish a diagnosis at an early stage, which significantly improves the further prognosis. However, not all patients manage to confirm the diagnosis from birth. This clinical case shows how late diagnosis of the disease leads to the development of severe complications and deterioration of the prognosis.

AimCoeliac disease (CD) is a chronic digestive disorder which presents in diverse ways and is under‐diagnosed. The purpose of this study was to provide insights into suspected CD among Russian schoolchildren, through defining the percentage of participants in an ‘at‐risk’ group for CD in a paediatric cohort, by means of a questionnaire as a primary screening tool.MethodsRussian school children of both sexes age 7‐18 years were enrolled in a population‐based study to identify individuals affected by CD. Each participant was presented with a structured questionnaire based on criteria that can be used to reveal symptomatic signs of CD. Following on, we developed a case‐finding strategy for the ‘at‐risk’ group, based on serological and genetic testing and, where possible, endoscopic examination of participants.Results10.2% of questionnaire respondents (312/3070) were classified as an at‐risk group. Pathobiological CD analysis of this group returned positive test results for 13.5% of participants (42/312), and 0.6% of them (2/312) had CD confirmed by biopsy sample analysis.ConclusionsOur findings suggest that at‐risk groups among children with symptomatic or some oligosymptomatic CD presentations can be identified through adopting a questionnaire as part of a population‐based screening survey, if generally accepted screening programs are inaccessible.

The peer review history for this article is available at https://publons.com/publon/10.1111/pai.13734.

Coeliac disease (CD) is a gluten-dependent inflammatory disease of the small bowel that affects up to 1% of the global population. Herein, the presence of ulcers, erosions, or strictures in the duodenum for non-advanced cases of CD is a rarity. Case report: We present a clinical case of a 17-year-old girl, who from the age of 9, had suffered from erosive Helicobacter pylori (HP)-associated gastritis and erosive duodenitis. At 16, she was diagnosed with a duodenal ulcer, complicated by cicatricial deformity of the bulb. While an atypical course in the development of the disease had led to the initial delay in diagnosis, a serum study and an intestinal biopsy confirmed CD. Discussion: A recent study found an elevated rate of peptic ulcer disease in patients with CD. From literature searches, comorbid HP infection and CD have indeed been widely reported, whereas cases highlighting the prevalence of CD-associated peptic ulcers have been observed and reported in only a few instances. Consequently, greater awareness is warranted and must be exercised for identifying the origins of ulcerative lesions that may be CD-related or -derived.

Coeliac disease (CD) is an autoimmune enteropathy triggered by the ingestion of gluten-containing grains in genetically predisposed individuals. Identification of CD in clinical practice is often difficult due to the manifestation of non-specific symptoms and signs, so a relatively significant proportion of CD cases remain undiagnosed. Timely detection of the disease is necessary to provide an appropriate approach to control of the disease treatment, in order to avoid potential complications. This is even more important in the case of children and adolescents, to ensure their proper growth and development. In this review, we discuss the data on the current strategies for CD detection among paediatric populations and the role of questionnaire-based discovery of CD cases in the area of interest. We assume that mass screening is a preferable strategy for finding CD cases within the paediatric population because this could uncover symptomatic, oligosymptomatic, and asymptomatic CD cases. However, under conditions of limited financial resources, screening for CD in risk groups, members of which can be identified using questionnaires, is essential. The pros and cons of CD screening in paediatric populations are presented. These depend on a number of situational criteria (cost-effectiveness, lack of awareness), but screening is designed to improve the detection of the disease and therefore improve the quality of life of patients.

Celiac disease (CD) is an autoimmune enteropathy triggered by the ingestion of dietary gluten from some cereals mainly in individuals carrying the HLA-DQ2 and/or HLA-DQ8 haplotypes. As an autoimmune disease, CD is manifested in the small intestine in the form of a progressive and reversible inflammatory lesion due to immune response to self-antigens. Indeed, CD is one of the most challenging medicosocial problems in current gastroenterology. At present, the global CD prevalence is estimated at approximately 1% based on data sent from different locations and available CD screening strategies used. However, it is impossible to estimate global CD prevalence without all the data from the world, including Russia. In this review, we summarize the data on the incidence and prevalence of CD across geographically distinct regions of Russia, which are mostly present in local Russian scientific sources. Our conclusion is that the situation of CD prevalence in Russia is higher than is commonly believed and follows global tendencies that correspond to the epidemiologic situation in Europe, America, and Southwest Asia.