Ameloblasts are specialized epithelial cells in the jaw that have an indispensable role in tooth enamel formation-amelogenesis1. Amelogenesis depends on multiple ameloblast-derived proteins that function as a scaffold for hydroxyapatite crystals. The loss of function of ameloblast-derived proteins results in a group of rare congenital disorders called amelogenesis imperfecta2. Defects in enamel formation are also found in patients with autoimmune polyglandular syndrome type-1 (APS-1), caused by AIRE deficiency3,4, and in patients diagnosed with coeliac disease5-7. However, the underlying mechanisms remain unclear. Here we show that the vast majority of patients with APS-1 and coeliac disease develop autoantibodies (mostly of the IgA isotype) against ameloblast-specific proteins, the expression of which is induced by AIRE in the thymus. This in turn results in a breakdown of central tolerance, and subsequent generation of corresponding autoantibodies that interfere with enamel formation. However, in coeliac disease, the generation of such autoantibodies seems to be driven by a breakdown of peripheral tolerance to intestinal antigens that are also expressed in enamel tissue. Both conditions are examples of a previously unidentified type of IgA-dependent autoimmune disorder that we collectively name autoimmune amelogenesis imperfecta.

• MeSH
• ameloblasty metabolismus   MeSH
• amelogenesis imperfecta * komplikace   imunologie   MeSH
• antigeny imunologie   metabolismus   MeSH
• autoimunitní polyglandulární syndromy * komplikace   imunologie   MeSH
• autoprotilátky * imunologie   MeSH
• celiakie * komplikace   imunologie   MeSH
• imunoglobulin A imunologie   MeSH
• lidé MeSH
• protein AIRE nedostatek   MeSH
• proteiny imunologie   metabolismus   MeSH
• střeva imunologie   metabolismus   MeSH
• zubní sklovina imunologie   metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• AIRE protein, human MeSH Prohlížeč
• antigeny MeSH
• autoprotilátky * MeSH
• imunoglobulin A MeSH
• protein AIRE MeSH
• proteiny MeSH

BACKGROUND: Celiac disease is an immune-mediated enteropathy triggered by gluten in genetically susceptible individuals. Diagnosis is based on evaluating specific autoantibodies and histopathologic findings of duodenal biopsy specimens. The only therapy for celiac disease is a gluten-free diet. Celiac disease can be complicated by malnutrition, other autoimmune diseases, refractoriness to treatment, and gastrointestinal tumors. This article presents seven cases of malignancies in patients with celiac disease. Its objective is to raise awareness of the malignant complications of celiac disease, leading to earlier diagnosis and improved outcomes. CASE PRESENTATION: Seven cases of malignant complications of celiac disease occurred among 190 patients followed at the Department of Internal Medicine and Gastroenterology, University Hospital Brno from 2014 to 2021. We describe these cases and the presentation, diagnostic process, course, management, and outcomes for each, along with proposed potential risk factors of malignant complications. There was one Caucasian man who was 70 years old and six Caucasian women who were 36, 46, 48, 55, 73, and 82 years old in our cohort. Of the seven cases of malignancies in our cohort, four patients were diagnosed with small bowel adenocarcinoma, one with diffuse large B-cell lymphoma, one with carcinoma of the tongue, and one with colorectal carcinoma. CONCLUSIONS: Malignancies occurred in 3.7% of patients followed up for celiac disease. Awareness of the malignant complications of celiac disease, risk factors, presentation, and disease course could lead to earlier diagnosis and improved outcomes.

• Klíčová slova
• Carcinoma, Case report, Celiac disease, Complication, Lymphoma, Malignancy,
• MeSH
• autoimunitní nemoci * MeSH
• autoprotilátky MeSH
• bezlepková dieta MeSH
• celiakie * komplikace   diagnóza   MeSH
• lidé MeSH
• nádory duodena * MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH
• Názvy látek
• autoprotilátky MeSH

Celiac disease is a lifelong autoimmune disorder that occurs in genetically predisposed people when consuming gluten. Its prevalence is around 1% of the population with about twice higher proportion of women. Celiac disease is one of the most common causes of malabsorption, however, its manifestations can be quite diverse - from completely asymptomatic to fully developed malabsorption syndrome. Extraintestinal manifestations are a common finding in adults. The gold standard of diagnosis is the serological detection of specific antibodies (the serum tissue transglutaminase IgA antibodies) in combination with a typical histological finding from a duodenal biopsy. Causal treatment is a lifelong gluten-free diet. Strict adherence to gluten-free diet will reduce the risk of serious complications (intestinal T-cell lymphoma). In the following case report we present a case of a 58-year-old patient, who have been diagnosed with celiac disease at this age based on non-classical symptoms. Specifically, these were multiple pathological fractures from metabolic bone disease due to malabsorption of calcium and vitamin D and subsequent secondary hyperparathyroidism.

• Klíčová slova
• celiac disease, gluten, gluten‑free diet, malabsorption,
• MeSH
• autoprotilátky MeSH
• bezlepková dieta MeSH
• biopsie MeSH
• celiakie * komplikace   diagnóza   MeSH
• dospělí MeSH
• gluteny MeSH
• lidé středního věku MeSH
• lidé MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• autoprotilátky MeSH
• gluteny MeSH

Celiac disease is an immune mediated entheropathy triggered by gluten in genetically predisposed individuals. Patients with celiac disease are at a higher risk of gastrointestinal malignancies. Diagnosis at an advance stage is one of the factors of an unfavorable prognosis of these complications. Our patient is a woman who was diagnosed with celiac disease at 53 years of age. After two years on a gluten-free diet she developed sideropenic anemia. No source of bleeding was found on the esophagogastroduodenoscopy or colonoscopy. Video capsule endoscopy revealed exulcerated bleeding stenosis in the jejunum, in front of which the capsule lodged. There were no signs of infiltration on simultaneous CT enterography. The patient was operated on and the infiltration of the jejunum was resected. The specimen was evaluated by a histopathologist as a moderately differentiated adenocarcinoma. Due to the risk factors, the patient received adjuvant chemotherapy. The knowledge of the malignant complications of celiac disease, their risk factors and the possibilities of modern enteroscopic methods could help in the early diagnosis and improvement of the prognosis of these diseases. Due to a lack of data and an absence of guidelines, treatment of a small bowel adenocarcinoma is based on an expert agreement and guidelines for colon cancer. Surgical treatment is the only potentially curative option. For stage II with risk factors and stage III adjuvant chemotherapy should be considered.

• Klíčová slova
• Adenocarcinoma, Celiac disease, small bowel, surgery, video capsule endoscopy,
• MeSH
• adenokarcinom * diagnostické zobrazování   MeSH
• celiakie * komplikace   MeSH
• kapslová endoskopie * MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory duodena * MeSH
• tenké střevo diagnostické zobrazování   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH

Osteoporosis in chronic diseases is very frequent and pathogenetically varied. It complicates the course of the underlying disease by the occurrence of fractures, which aggravate the quality of life and increase the mortality of patients from the underlying disease. The secondary deterioration of bone quality in chronic diseases, such as diabetes of type 1 and type 2 and/or other endocrine and metabolic disorders, as well as inflammatory diseases, including rheumatoid arthritis - are mostly associated with structural changes to collagen, altered bone turnover, increased cortical porosity and damage to the trabecular and cortical microarchitecture. Mechanisms of development of osteoporosis in some inborn or acquired disorders are discussed.

• MeSH
• celiakie komplikace   genetika   metabolismus   MeSH
• Crohnova nemoc komplikace   genetika   metabolismus   MeSH
• diabetes mellitus genetika   metabolismus   MeSH
• lidé MeSH
• metabolické nemoci komplikace   genetika   metabolismus   MeSH
• osteoporóza komplikace   genetika   metabolismus   MeSH
• remodelace kosti fyziologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

OBJECTIVE: To bring a review of available literature sources on the prevalence of coeliac disease and its possible impact on gynecological and obstetric disorders. DESIGN: Review article. SETTING: Gynecology and Obstetrics Clinic, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia. METHODS: Analysis of literary sources. CONCLUSION: Coeliac disease is an autoimmune enteropathy caused by abnormal immune system response to gluten. Over the last decade when the prevalence of the disease increases rapidly confirming the relationship between coeliac disease and a range of reproductive disorders. Problems in this area are mostly confirmed in untreated women. Among the atypical symptoms of coeliac disease also include infertility such as delayed onset of menstruation, early menopause, secondary amenorrhea, infertility and pregnancy complications, such as recurrent abortions, intrauterine fetal growth restriction, small fetus for gestational age, low birth weight and premature birth.

• Klíčová slova
• coeliac disease, infertility pregnancy complications.,
• MeSH
• celiakie komplikace   MeSH
• komplikace těhotenství etiologie   MeSH
• lidé MeSH
• menstruační poruchy etiologie   MeSH
• těhotenství MeSH
• ženská infertilita etiologie   MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

AIMS: The aim of the study was to investigate gastrointestinal comorbidities, identify risk factors and detect the early stages of autoimmune gastrointestinal diseases, such as Crohn's disease, ulcerative colitis and coeliac disease in patients with psoriasis. METHODS: This was a hospital-based case-control study. Patients with chronic plaque psoriasis were included as cases. The control group consisted of patients with other skin diseases and who complied with the same selection criteria as cases. Two controls were selected per one case. We analysed the following antibodies (ASCA, AEP, p-ANCA, AGC, EMA, ARA, tTG, AGA) and non-specific signs of gastrointestinal diseases. RESULTS: There were significant differences between cases and controls in several parameters. Leucocyte count, CRP, total protein, transglutaminase IgA antibodies and p-ANCA were statistically significant between groups (P < 0.05). In the binary logistic model, leucocyte count and p-ANCA (for all parameters included in the logistic model P ≤ 0.001) were associated with psoriasis. CONCLUSION: Patients with psoriasis should be regularly screened for coeliac and inflammatory bowel disease. Early diagnosis of gastrointestinal diseases and risk factors may prevent complications and greatly improve the patient's quality of life.

• Klíčová slova
• coeliac disease, inflammatory bowel diseases, psoriasis,
• MeSH
• C-reaktivní protein metabolismus   MeSH
• časná diagnóza MeSH
• celiakie komplikace   diagnóza   epidemiologie   MeSH
• chronická nemoc MeSH
• Crohnova nemoc komplikace   diagnóza   epidemiologie   MeSH
• imunoglobulin A metabolismus   MeSH
• kvalita života MeSH
• lidé MeSH
• počet leukocytů MeSH
• protilátky proti cytoplazmě neutrofilů metabolismus   MeSH
• psoriáza komplikace   epidemiologie   MeSH
• studie případů a kontrol MeSH
• transglutaminasy metabolismus   MeSH
• ulcerózní kolitida komplikace   diagnóza   epidemiologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• C-reaktivní protein MeSH
• imunoglobulin A MeSH
• protilátky proti cytoplazmě neutrofilů MeSH
• transglutaminasy MeSH

An old saying states that ''children are not little adults" and this certainly holds true for celiac disease, as there are many peculiar aspects regarding its epidemiology, diagnosis, clinical presentations, associated diseases, and response to treatment in pediatric compared to adult populations, to such an extent that it merits a description of its own. In fact, contrary to the past when it was thought that celiac disease was a disorder predominantly affecting childhood and characterized by a malabsorption syndrome, nowadays it is well recognized that it affects also adult and elderly people with an impressive variability of clinical presentation. In general, the clinical guidelines for diagnosis recommend starting with specific serologic testing in all suspected subjects, including those suffering from extraintestinal related conditions, and performing upper endoscopy with appropriate biopsy sampling of duodenal mucosa in case of positivity. The latter may be omitted in young patients showing high titers of anti-transglutaminase antibodies. The subsequent management of a celiac patient differs substantially depending on the age at diagnosis and should be based on the important consideration that this is a lifelong condition.

• Klíčová slova
• adulthood, associated diseases, childhood, complications.,
• MeSH
• celiakie * komplikace   diagnóza   terapie   MeSH
• dítě MeSH
• dospělí MeSH
• klinické protokoly MeSH
• lidé MeSH
• věkové faktory * MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH
• srovnávací studie MeSH

OBJECTIVE: To assess the prevalence of celiac disease in adult patients with type 1 diabetes mellitus (T1DM). Influence the new started treatment of celiac disease on glycemic control and body mass index (BMI) of the patients. Prevail the anti-transglutaminase antibody (atTG) positivity one year after commencement of the therapy. METHODS: A retrospective assessment of celiac disease targeted screening in 465 adult T1DM patients at Diabetes Center, 1st Medical Department, University Hospital in Pilsen (80 % of all T1DM patients) from 1. 1. 2007 until 1. 7. 2011. Enterobiopsy was indicated in case of atTG-A (or atTG-G) positivity. In patients with newly started gluten-free diet, HbA1c and BMI within a year after diagnosis of celiac disease were compared to a year period six months after treatment commencement (3-4 visits), atTG was evaluated one year after treatment beginning. Paired T-test was used for statistical evaluation. RESULTS: The prevalence of all forms of celiac disease in the studied group was 10.5 %. Celiac disease diagnosed in childhood was found in 1.1 % patients (5/465). Positivity of atTG was newly observed in 9.5 % (44/465) patients. Three patients with atTG > 300 kIU/l refused the enterobiopsy examination. Celiac disease is highly plausible. The influence of gluten-free diet on BMI and HbA1c could not be evaluated due to the lack of compliance. 22 patients had a potential form of celiac disease (negative histology). Positive enterobiopsy was found in 19 patients (4.1 %). Another 3 patients had to be excluded from the subgroup of 22 patients (newly indicated gluten-free diet) as the HbA1c values and BMI were affected by the primary diagnosis of T1DM. Subgroup characteristics: 9 women and 7 men, mean age 38 ± 12 years, diabetes duration 21 ± 13 years, celiac disease diagnosed 20.7 ± 13 years since first diagnosis of T1DM. No statistically significant change in HbA1c (67 ± 11.4 vs 69 ± 13.9 mmol/mol) was observed in the studied period, however and a significant change of BMI from 25.4 ± 4.2 to 25.9 ± 4.3 (p < 0.01) was found. The atTG positivity prevailed in 47 % (9/19) of patients after one year. CONCLUSION: A total prevalence of the celiac disease in the group of adult T1DM patients was 10.5 %. No significant change in HbA1c occurred following treatment, a significant change of BMI was observed. The atTG positivity prevailed in 47 % of patients after one year.

• MeSH
• bezlepková dieta * MeSH
• celiakie komplikace   epidemiologie   prevence a kontrola   MeSH
• diabetes mellitus 1. typu * MeSH
• dospělí MeSH
• index tělesné hmotnosti MeSH
• krevní glukóza MeSH
• lidé MeSH
• prevalence MeSH
• retrospektivní studie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• krevní glukóza MeSH

Both celiac disease and osteoporosis are common diseases which are considered an emerging problem in medicine. Celiac disease is a condition at high risk for secondary osteoporosis. Osteoporosis or osteopenia are typically present in untreated adult symptomatic celiac disease with an overt malabsorption syndrome, but is found in about 50 % in suboptimally treated celiac patients, subclinical patients and asymptomatic adult celiac patients, too. Etiology of pathologic bone alteration in celiac disease is multifactorial; however, two main mechanisms are involved: intestinal malabsorption and chronic inflammation. The evaluation of bone mineral metabolism (total calcium/albumin, 25-OH vitamin D3 and parathormone levels in serum) and bone mineral density (densitometry) is recommended in the clinical management of celiac patients. Many studies have demonstrated that bone mineral density values in adults show a good improvement in the first period after the institution of gluten-free diet, the improvement is then unsatisfactory and treatment with a mineral-active drug should probably be considered.

• MeSH
• bezlepková dieta MeSH
• celiakie komplikace   prevence a kontrola   MeSH
• kostní denzita MeSH
• lidé MeSH
• osteoporóza komplikace   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH