Inflammatory bowel disease (IBD) includes Crohns disease (CD) and ulcerative colitis (UC). Those are chronic gastrointestinal disorders of inflammatory nature and not fully known etiology. As a result of their immune-mediated mechanism and complex impact on the whole organism other organs than gastrointestinal system may be affected in many ways. These extraintestinal manifestations (EIM) and complications may severely deteriorate prognosis of the patient, cause his morbidity and worsen the quality of life. While classical extraintestinal manifestations, such as enteropathic arthropathy, skin or eye involvement or primary sclerosing cholangitis, share common immunopathological mechanism with IBD, whole range of other disorders may result from various anatomical or metabolic abnormalities caused by IBD or its treatment. This review focus on the most common extraintestinal complications, such as anaemia, metabolic bone disease, biliary and urolithiasis, which we meet in our daily clinical practice.

• Klíčová slova
• anaemia, anemia, extraintestinal complications, inflammatory bowel disease, lithiasis, metabolic bone disease,
• MeSH
• Crohnova nemoc * MeSH
• idiopatické střevní záněty * komplikace   MeSH
• kožní nemoci * MeSH
• kvalita života MeSH
• lidé MeSH
• sklerozující cholangitida * MeSH
• ulcerózní kolitida * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Patients with inflammatory bowel disease (IBD) have a 1.5-3.5-fold higher risk of thromboembolism when compared to the non-IBD population and the risk is much more prominent at the time of a flare. Arterial thromboembolism (ischemic stroke, focal white matter ischemia, cardiac ischemia, peripheral vascular disease and mesenteric ischemia) and venous thromboembolism (deep vein thrombosis and pulmonary embolism, cerebral venous sinus thrombosis, retinal, hepatic, portal and mesenteric vein thromboses) belong to the group of underestimated extraintestinal complications in IBD patients, which are associated with a high morbidity and mortality rate (the overall mortality is as high as 25 % per episode). Thromboembolism occurs in younger patients compared to the non-IBD population and has a high recurrence rate. Multiple risk factors are involved in the etiopathogenesis, but the acquired ones play the key role. Congenital alterations do not occur more frequently in IBD patients when compared to the non-IBD population. Standardized guidelines for the prophylaxis of thromboembolism in IBD patients are urgently needed and these should be respected in clinical practice to avoid preventable morbidity and mortality.

• MeSH
• idiopatické střevní záněty * komplikace   mortalita   patologie   terapie   MeSH
• lidé MeSH
• recidiva MeSH
• směrnice pro lékařskou praxi jako téma MeSH
• tromboembolie * etiologie   mortalita   patologie   prevence a kontrola   MeSH
• věkové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

Extraintestinal manifestations are common complications of inflammatory bowel disease (IBD) whereas the association of cardiac disease with IBD is rarely reported. Cardiac manifestations may be diagnosed before, concomitantly or after the diagnosis of the specific type of inflammatory bowel disease. Pericarditis and myocarditis are potentially serious complications. This extraintestinal manifestation developed in one patient concomitantly with onset of intestinal disease. One patient had ulcerative colitis (UC), while other had Crohn's disease (CD). Indomethacin was effective in one and the other patient required prednisone in addition. Chest symptoms in patients with inflammatory bowel disease should be evaluated to exclude myopericardial disease.

• MeSH
• dospělí MeSH
• idiopatické střevní záněty komplikace   MeSH
• lidé MeSH
• perikarditida komplikace   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Anemia is the most common extraintestinal systemic complication of inflammatory bowel disease. Iron deficiency anemia and anemia of chronic disease are among the most frequent types. Intestinal iron absorption is controlled by the activity of ferroportin. Cells with high expression of ferroportin include enterocytes, and also macrophages and hepatocytes. Iron homeostasis is controlled by the hepcidin-ferroportin axis. Hepcidin is a central regulator of iron metabolism and can also serve as a marker of systemic inflammation. During systemic inflammatory response, the synthesis of hepcidin increases, and hepcidin binds to ferroportin and inhibits its activity. Thus, iron is not absorbed from the bowel into the circulation and also remains sequestered in macrophages. Conversely, hepcidin synthesis is suppressed during conditions requiring increased iron intake for enhanced erythropoiesis, such as iron deficiency anemia or hypoxia. Here, ferroportin is not blocked, and iron is actively absorbed into the bloodstream and also released from the stores. Production of hepcidin is influenced by the status of total body iron stores, systemic inflammatory activity and erythropoietic activity. Oral iron therapy is limited in inflammatory bowel diseases due to ongoing gastrointestinal inflammation. It is less effective and may worsen the underlying disease. Therefore, the choice between oral and parenteral iron therapy must be made with caution. Oral iron would be ineffective at high hepcidin levels due to concurrent ferroportin blockage. Contrarily, low levels of hepcidin indicate that oral iron therapy should be successful. An understanding of hepcidin can help in understanding the body's reaction to iron depletion during the inflammatory process.

• Klíčová slova
• Anemia, Childhood, Hepcidin, Inflammatory bowel disease,
• MeSH
• anemie etiologie   terapie   MeSH
• ferroportin MeSH
• hepcidiny metabolismus   MeSH
• idiopatické střevní záněty komplikace   MeSH
• lidé MeSH
• proteiny přenášející kationty metabolismus   MeSH
• regulace genové exprese MeSH
• železo aplikace a dávkování   metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH
• Názvy látek
• ferroportin MeSH
• hepcidiny MeSH
• proteiny přenášející kationty MeSH
• železo MeSH

UNLABELLED: Low bone mineral density (BMD) and an increased fracture incidence are two extraintestinal complications associated with inflammatory bowel disease (IBD). We aimed to evaluate musculoskeletal traits and assess vertebral fracture (VF) rate in children and adolescents with IBD. Seventy patients with IBD with a median age of 13.8 years were included. The BMD and geometric parameters of the non-dominant tibia were assessed using pQCT. Dynamic muscle functions were evaluated using jumping mechanography. VFs were assessed according to the semiquantitative standardized method by Genant. The muscle functions adjusted for the patients' weight did not differ from the reference population. A low trabecular BMD (Z-score - 1.6; p < 0.001) and cortical thickness (Z-score - 0.7; p < 0.001) were found in children and adolescents with IBD. Conversely, an increased cortical BMD (Z-score 1.1; p < 0.001) was noted. No significant association was found between the 25-OHD serum levels and the bone or muscle measurements. One patient with asymptomatic VF was identified. CONCLUSION: IBD in childhood or adolescents affects bones but not muscles. Bone changes are independent of the 25-OHD serum level. A thoracolumbar spine X-ray should not be routinely recommended in children with IBD. What is Known: • Low bone mineral density and an increased fracture rate are the complications associated with IBD. • Bone strength and structural development is strongly dependent on skeletal muscle stimulation. What is New: • Children with IBD have altered bone density and geometry but normal dynamic muscle functions. • Thoracolumbar spine X-ray should be indicated on an individual basis in children with IBD.

• Klíčová slova
• Bone strength, Inflammatory bowel disease, Mechanography, Muscle functions, Peripheral quantitative computed tomography, Vitamin D,
• MeSH
• absorpční fotometrie MeSH
• dítě MeSH
• fraktury páteře diagnostické zobrazování   epidemiologie   etiologie   MeSH
• idiopatické střevní záněty komplikace   patofyziologie   MeSH
• kostní denzita * MeSH
• lidé MeSH
• logistické modely MeSH
• mladiství MeSH
• mladý dospělý MeSH
• prevalence MeSH
• průřezové studie MeSH
• radiografie MeSH
• rizikové faktory MeSH
• svalová síla * MeSH
• trabekulární kostní tkáň patofyziologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Inflammatory bowel disease (IBD) is a group of chronic relapsing intestinal inflammatory processes primarily represented by ulcerative colitis (UC) and Crohn´s disease (CD). Nearly half of IBD cases are followed by extraintestinal complications and renal involvement can occur independatly or along with other complications and are described with the patients sufferring from UC or CD. Most frequent renal involvement is nephrolithiasis, tubulointerstinal nephritis, different kinds of glomerulonephritis and AA amyloidosis. We are presenting an unusal form of renal involvement of a young female patient with a severe form of Crohn´s disease treated with recombinant monoclonal antibodies.

• Klíčová slova
• Inflammatory bowel disease, Crohn´s disease, glomerulonephritis, kidney biopsy,
• MeSH
• Crohnova nemoc * komplikace   MeSH
• glomerulonefritida * MeSH
• idiopatické střevní záněty * MeSH
• lidé MeSH
• recidiva MeSH
• ulcerózní kolitida * MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

BACKGROUND AND AIMS: The aim of the present study was to validate the IBD (inflammatory bowel diseases) incidence reported in the 2010 ECCO-EpiCom (European Crohn's and Colitis Organization-Epidemiological Committee) inception cohort by including a second independent inception cohort from participating centers in 2011 and an Australian center to investigate whether there is a difference in the incidence of IBD between Eastern and Western European countries and Australia. METHODS: Fourteen centers from 5 Eastern and 9 Western European countries and one center from Australia participated in the ECCO-EpiCom 2011 inception cohort. Patients' data regarding disease type, socio-demographic factors, extraintestinal manifestations and therapy were entered into the Web-based EpiCom database, www.ecco-epicom.eu. RESULTS: A total of 711 adult patients were diagnosed during the inclusion year 2011, 178 (25%) from Eastern, 461 (65%) from Western Europe and 72 (10%) from Australia; 259 (37%) patients were diagnosed with Crohn's disease, 380 (53%) with ulcerative colitis and 72 (10%) with IBD unclassified. The mean annual incidence rate for IBD was 11.3/100,000 in Eastern Europe, 14.0/100,000 in Western Europe and 30.3/100,000 in Australia. Significantly more patients were diagnosed with complicated disease at diagnosis in Eastern Europe compared to Western Europe (43% vs. 27%, p=0.02). CONCLUSION: Incidence rates, disease phenotype and initial treatment characteristics in the 2011 ECCO-EpiCom cohort were not significantly different from that reported in the 2010 cohort.

• Klíčová slova
• Inception cohort, Incidence, Inflammatory bowel diseases,
• MeSH
• antiflogistika nesteroidní terapeutické užití   MeSH
• Crohnova nemoc komplikace   diagnóza   farmakoterapie   epidemiologie   MeSH
• dospělí MeSH
• imunosupresiva terapeutické užití   MeSH
• incidence MeSH
• kohortové studie MeSH
• kolonoskopie statistika a číselné údaje   MeSH
• kouření epidemiologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mesalamin terapeutické užití   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• stenóza etiologie   MeSH
• steroidy terapeutické užití   MeSH
• stupeň závažnosti nemoci MeSH
• ulcerózní kolitida komplikace   diagnóza   farmakoterapie   epidemiologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• validační studie MeSH
• Geografické názvy
• Austrálie epidemiologie   MeSH
• Evropa epidemiologie   MeSH
• Názvy látek
• antiflogistika nesteroidní MeSH
• imunosupresiva MeSH
• mesalamin MeSH
• steroidy MeSH

PURPOSE: Crohn's disease is a chronic gastrointestinal inflammatory disease with possible extraintestinal symptoms. There are predisposing genetic factors and even monogenic variants of the disorder. One of the possible genetic factors are variants of the DUOX2 gene. The protein product of the DUOX2 gene is a dual oxidase enzyme producing H2O2 in the bowel. Reduced H2O2 levels impact mucosal homeostasis and contribute to the development of inflammatory bowel disease. Thus far, only 19 patients with IBD with the DUOX2 variants have been described. METHODS: Here we present a case report of an adolescent female diagnosed at eleven years of age with IBD that was subsequently reclassified as Crohn's disease. She was treated with immunosuppressants and biological therapy but experienced additional complications. Her peripheral blood lymphocyte DNA was studied using massive parallel sequencing. Detected variants were functionally studied. RESULTS: Whole exome sequencing found two novel DUOX2 gene variants: a de novo variant c.3646C>T; p.R1216W and a maternally inherited variant c.3391G>A; p.A1131T which were initially classified as variants of unknown significance. However, follow-up functional studies demonstrated that both DUOX2 variants led to impaired H2O2 generation, which led to their reclassification to the likely pathogenic class according to the ACMG.net. Therefore, we conclude that these variants are causative for the disease. CONCLUSIONS: Identifying novel variants in patients with Crohn's disease and their families is important for precision medicine approaches and understanding of the pathogenesis of likely "monogenic" rare forms of inflammatory bowel disease.

• Klíčová slova
• Crohn’s Disease, DUOX2, Massive parallel sequencing, Whole exome sequencing,
• MeSH
• Crohnova nemoc * genetika   MeSH
• duální oxidasy genetika   MeSH
• idiopatické střevní záněty * genetika   MeSH
• lidé MeSH
• mladiství MeSH
• peroxid vodíku MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• duální oxidasy MeSH
• DUOX2 protein, human MeSH Prohlížeč
• peroxid vodíku MeSH

Extraintestinal manifestations and metabolic complications are very frequent in patients with idiopathic inflammations of the gut and are encountered in at least 35% of these patients. In Crohn's disease extraintestinal manifestations are more frequent than in ulcerative colitis, in particular when the large bowel is affected. Metabolic complications are the result of inflammatory changes of the small intestine or develop as a result of the reduced reabsorption surface of the gut. As to the relationship to the activity of the idiopathic inflammation of the gut, extraintestinal manifestations can be differentiated into those which depend on the activity of the basic disease and those which lack this dependence. From the aspect of a long-term prognosis extraintestinal manifestation independent on the activity of the inflammation of the gut are much more serious, because as a rule they have a long-term and usually progressive trend. The most serious extraintestinal complication is primary sclerotizing cholangitis which in the majority of patients leads to destruction of the biliary pathways and the development of biliary cirrhosis. Depending on the predominantly affected site of the biliary system, primary sclerotizing cholangitis is divided into three types. It is encountered much more frequently in ulcerative colitis than in Crohn's disease. Treatment of primary sclerotizing cholangitis is not very effective. At present it appears that the only drug with an effect on the course of the disease is long-term administration of urodesoxycholic acid. For patients with manifestations of hepatic insufficiency the only solution is transplantation of the liver. In all patients where the diagnosis of primary sclerotizing cholangitis was established, at the same time the possibility of inclusion in a transplantation programme should be considered. The relationship between sclerotizing cholangitis and pericholangitis has not been resolved conclusively. At present the majority of authors is inclined to believe that pericholangitis is part of changes associated with sclerotizing cholangitis. Other hepatobiliary complications of idiopathic inflammations of the gut such as cholelithiasis and parenchymatous liver damage, steatosis of the liver and chronic autoimmune hepatitis are not such a serious problem as sclerotizing cholangitis.

• MeSH
• idiopatické střevní záněty komplikace   MeSH
• lidé MeSH
• nemoci jater komplikace   diagnóza   terapie   MeSH
• nemoci žlučového ústrojí komplikace   diagnóza   terapie   MeSH
• sklerozující cholangitida komplikace   diagnóza   terapie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH