RESUMO
Ulcerative colitis (UC) is an inflammatory bowel disease of unknown etiology. It is characterized by a chronic course with periods of aggravations and remissions. Among patients, 25-55% present with ulcerative proctitis (UP) at the time of diagnosis. UP is well-treated disease associated with a good prognosis. UP is characterized by a less aggressive course than the left-sided form of UC and pancolitis, with a good response to topical treatment. Moreover, UP is associated with a lower risk of severe aggravations and systemic and local complications and lower need for colectomy, hospitalization and glucocorticosteroids and immunosuppressive drugs, in comparison with more extensive forms of the disease. Thus, the key issue is to prognose the natural course of the disease in order to identify high-risk patients and apply biological or immunosuppressive treatment early to prevent the development of complications. In this review, we summarize the current knowledge about the natural course of UP and discuss risks and protective factors related to disease progression and current treatment concepts.
Assuntos
Colite Ulcerativa , Proctite , Humanos , Colite Ulcerativa/tratamento farmacológico , Imunossupressores/uso terapêutico , Colectomia , Fatores de Risco , Proctite/etiologia , Progressão da DoençaRESUMO
Crohn's disease is an inflammatory disorder that can affect the entire gastrointestinal tract but typically involves the ileocecal region. Before endoscopy was widely used, involvement of the esophagus, stomach, and duodenum was thought to be rare. Recent publications demonstrated that not only are upper gastrointestinal lesions common in Crohn's disease (affecting up to 75% of the patients), but they also present characteristic endoscopic findings with potential clinical significance. It was suggested that lesions in the stomach with a bamboo joint-like appearance might be an endoscopic biomarker for Crohn's disease. It was also found that this occurrence is related to a more severe disease course. Our review summarizes the literature, as well as our own observations and considerations, concerning the issue of upper gastrointestinal involvement in Crohn's disease and its clinical meaning.
Assuntos
Doença de Crohn/patologia , Duodenopatias/patologia , Doenças do Esôfago/patologia , Gastropatias/patologia , Doença de Crohn/diagnóstico por imagem , Duodenopatias/diagnóstico por imagem , Endoscopia Gastrointestinal , Doenças do Esôfago/diagnóstico por imagem , Humanos , Gastropatias/diagnóstico por imagemRESUMO
Crohn's disease (CD) may affect the entire gastrointestinal tract including its upper part. However, this aspect is poorly addressed in scientific literature and considered a rare finding. Here we aimed to prospectively investigate the prevalence, characteristics and clinical significance of upper gastrointestinal tract involvement in patients with CD, with particular focus on stomach bamboo joint-like appearance (BJA), Helicobacter pylori status and presence of microscopic changes. 375 prospectively recruited patients were included. In CD patients the prevalence of gastric and duodenal, but not esophageal, mucosal lesions, such as gastric mucosal inflammation, duodenal edema, ulcerations, and duodenal bulb deformation was significantly higher (at least p < 0.01 for all). Similar results were found when only H. pylori negative individuals were analyzed. Moreover, BJA of the stomach and in case of H. pylori negative patients also duodenal bulb deformation were detected exclusively in CD patients. Presence of BJA lesion was not significantly associated with neither duration of the disease nor use/history of biologic treatment. Despite absence of H. pylori infection microscopic features of chronic gastritis were found in almost all (93.5%) patients, and in 31% of controls (p < 0.00001). Our analysis outlines that upper gastrointestinal tract involvement in CD is a very common event and frequently manifests with a highly specific BJA lesion. Furthermore, our study reveals that in almost all CD patients features of H. pylori negative gastritis are present.
Assuntos
Doença de Crohn , Endoscopia Gastrointestinal , Gastrite , Trato Gastrointestinal Superior , Humanos , Doença de Crohn/patologia , Duodeno/diagnóstico por imagem , Duodeno/patologia , Gastrite/epidemiologia , Gastrite/patologia , Infecções por Helicobacter/complicações , Infecções por Helicobacter/epidemiologia , Infecções por Helicobacter/patologia , Helicobacter pylori , Trato Gastrointestinal Superior/diagnóstico por imagem , Trato Gastrointestinal Superior/patologiaRESUMO
Irritable bowel syndrome (IBS) is one of the most common disorders of gastrointestinal tract, affecting significant number of western population. The characteristic features are chronic and(or) recurrent abdominal pain and discomfort associated with changes in the bowel habit with or without bloating. According to Rome Criteria III there is an improved focus on the intestinal transit time which allows for better diagnosis and characterization of patients either with diarrhea, constipation predominant or mixed type IBS. Patients with IBS also frequently manifest various symptoms related to central nervous system (CNS) as depression or personality disorders. In this review we present current knowledge concerning etiopathogenesis of IBS with emphasis on the role of microbiota and describe promissing profilatic and treatment modalities with anti-biotics and probiotics capable to modulate microbiota and gut-brain axis. Most recent studies concerning clinical efficacy of antibiotic rifaximin and probiotic strain Lactobacillus plantarum 299v in symptom prevention (reduction) of this common gastrointestinal disorder are briefly described.
Assuntos
Síndrome do Intestino Irritável/complicações , Síndrome do Intestino Irritável/diagnóstico , Transtornos da Personalidade/etiologia , Depressão/etiologia , Humanos , Síndrome do Intestino Irritável/fisiopatologia , Síndrome do Intestino Irritável/psicologiaRESUMO
Ectopic pancreas is the most common type of ectopic tissue in gastrointestinal tract. It is typically asymptomatic, presenting as a small submucosal lesion in prepyloric region of stomach. The diagnosis is usually incidental, during gastroscopy. The patient with symptomatic heterotropic pancreas, mimicking gastric malignancy was described.
Assuntos
Coristoma/diagnóstico , Pâncreas , Gastropatias/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Gástricas/diagnóstico , Adulto JovemRESUMO
The gastric microbiota in Crohn's disease (CD) has not been studied. The purpose of the study was to evaluate differences of stomach microbiota between CD patients and controls. DNA was extracted from gastric mucosal and fluid samples, from 24 CD patients and 19 controls. 16S rRNA gene sequencing identified 1511 operational taxonomic units (OTUs), of which 239 passed the low abundance and low variance filters. All but one CD patients were HP negative. Fifteen bacterial phyla were identified in at least one mucosal or fluid site. Of these, Bacteroidota and Firmicutes accounted for 70% of all phyla. Proteobacteria, Actinobacteriota, and Fusobacteriota combined accounted for 27%. There was significant difference in the relative abundance of Bacteroidota, Proteobacteria, Fusobacteriota, and Campilobacterota between CD patients and controls only in gastric corpus samples. In gastric liquid, there was a significant difference only in Actinobacteriota. Pairwise comparison identified 67 differentially abundant OTUs in at least one site. Of these, 13 were present in more than one comparison, and four differentiating OTUs (Neisseriaceae, Neisseria, Absconditabacteriales, and Microbacteriaceae) were identified at all tested sites. The results reveal significant changes in gastric microbial profiles (beta diversity, phylum, and individual taxa levels) between H. pylori-negative CD patients and controls.
Assuntos
Doença de Crohn/microbiologia , Firmicutes/genética , Microbioma Gastrointestinal/genética , RNA Ribossômico 16S/genética , Bacteroidetes/genética , Doença de Crohn/diagnóstico , Doença de Crohn/genética , Fezes/microbiologia , Fusobactérias/genética , Humanos , Proteobactérias/genéticaRESUMO
RATIONALE: Cerebral venous sinus thrombosis (CVST) represents one of the most alarming forms of hemostatic abnormalities that may occur in patients with inflammatory bowel diseases (IBDs). PATIENT CONCERNS: Here we report a case of a 25-year-old male with ulcerative colitis, who developed such thromboembolic complication during flare of the disease. CVST in our patient was clinically manifested by headache and nausea. DIAGNOSIS: Angio-magnetic resonance imaging scan of the head revealed segments of contrast filling defects/absence indicating right dural venous sinus thrombosis of the transverse sinus. INTERVENTION: Immediate treatment with low-molecular-weight heparin has been introduced and led to full remission of symptoms and total recanalization of the thrombotic cerebral regions. OUTCOMES: Currently (over 2 years after diagnosis) the patient is in remission of the disease, and no further thromboembolic complications have been observed. LESSONS: Our case study highlights the clinical difficulties and challenges associated with diagnosis and treatment of CVST, as well as presents the current state of knowledge about this complication among patients with IBDs. Physicians taking care of IBD patients should be aware of this alarming hemostatic abnormality.
Assuntos
Anticoagulantes/uso terapêutico , Colite Ulcerativa/complicações , Heparina de Baixo Peso Molecular/uso terapêutico , Trombose dos Seios Intracranianos/tratamento farmacológico , Adulto , Colite Ulcerativa/tratamento farmacológico , Humanos , Quimioterapia de Indução , Masculino , Trombose dos Seios Intracranianos/etiologia , Exacerbação dos SintomasRESUMO
It is suggested that IL-23/IL-17 axis and single nucleotide polymorphisms (SNPs) of IL23R may have crucial role in pathogenesis of Crohn's disease (CD). Thus, we sought to assess the IL23R SNPs contribution to susceptibility and phenotype of CD. We recruited 117 CD subjects and 117 controls from Poland and 30 CD subjects and 30 controls from Bosnia and Herzegovina (B&H). Two common IL23R SNPs: rs1004819, rs7517847 were genotyped using TaqMan SNP assays. In the Polish population it was found that allele rs1004819: A increases the risk of CD, while allele rs7517847: A is protective against disease development. In Poles the co-carriage of two IL23R risk genotypes was associated with increased risk of CD. A significantly increased risk of CD early onset was observed in Poles carrying at least one rs7517847: G allele. It was also found that IL23R SNPs may be associated with structuring/penetrating CD behavior, as alleles rs1004819: A and rs7517847: G were significantly less frequent in patients without complications, from Poland and B&H, respectively. Allele rs1004819: A was also significantly more frequent in Poles with penetrating CD. These results confirm IL23R SNPs contribution to CD susceptibility in the Polish population and suggest their impact on early age of onset and more severe disease course.
Assuntos
Doença de Crohn/epidemiologia , Doença de Crohn/genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Receptores de Interleucina/genética , Adulto , Alelos , Bósnia e Herzegóvina/epidemiologia , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Polônia/epidemiologiaRESUMO
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene. In Europe, frequencies of these mutations are the highest in Northern European countries and gradually decrease southwards. We analysed the prevalence of HFE mutations in 1517 DNA samples, including 1000 samples from the general population (subjects registered at general practitioner practices) in northwestern Poland, and 517 samples of cord blood from the same region. We identified 2 (0.13%) homozygotes and 117 (7.8%) heterozygotes for the C282Y mutation. As regards the H63D mutation (1505 DNA samples analysed), 38 (2.5%) samples were homozygotes and 380 (25%) were heterozygotes. Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation.
Assuntos
Substituição de Aminoácidos/genética , Frequência do Gene , Hemocromatose/genética , Mutação de Sentido Incorreto/genética , Feminino , Hemocromatose/epidemiologia , Humanos , Masculino , Polônia/epidemiologia , PrevalênciaRESUMO
The role of ABCB1 single nucleotide polymorphisms (SNPs) in the development of Crohn's disease (CD) remains unclear. Due to inconsistent results of several European population-based studies and limited information on populations from Poland and Bosnia and Herzegovina (B&H), we conducted a preliminary association study of two main ABCB1 SNPs and CD. ABCB1 3435C>T and 2677G>T/A SNPs were analyzed in Polish and Bosnian patients with CD (n = 85 and n = 30, respectively) and controls (n = 82 and n = 30, respectively) using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for 3435C>T and allele-specific PCR for 2677G>A/T SNP. A deviation from Hardy-Weinberg equilibrium was found for both SNPs in Polish patients with CD, and for 2677G>A/T in Polish control group. The allele and genotype frequencies of the two ABCB1 SNPs were not significantly different between the CD patients and controls in both populations (p > 0.05). Similarly, the genotype distribution of 3435C>T and 2677G>T/A SNPs was not significantly different between Polish and Bosnian patients with CD (p > 0.05). At least one mutated ABCB1 allele was carried by 97.7% of Polish and 90.0% of Bosnian patients with CD. No association was found between the ABCB1 SNPs and CD in the two populations. In conclusion, the two ABCB1 SNPs may not contribute to CD susceptibility in the populations of Poland and B&H. Further studies with larger samples in both populations are warranted.
Assuntos
Doença de Crohn/epidemiologia , Doença de Crohn/genética , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Adulto , Idade de Início , Idoso , Alelos , Bósnia e Herzegóvina/epidemiologia , DNA/genética , DNA/isolamento & purificação , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Data on prevalence and phenotypic consequences of nucleotide-binding oligomerisation domain 2/caspase recruitment domains 15 (NOD2/CARD15) variants in Crohn's disease (CD) population in Poland and Bosnia and Herzegovina (B&H) are nonexistent. We aimed to determine the prevalence of NOD2/CARD15 mutations and their association with disease phenotype in Polish and Bosnian patients with CD and in healthy controls. We prospectively recruited 86 CD patients and 83 controls in Poland and 30 CD patients and 30 controls in B&H, 229 in total. We determined the prevalence of NOD2/CARD15 mutations and their association with the disease phenotype according to Montreal classification. Participants were genotyped for Leu1007fsinsC and Gly908Arg mutations. At least one CD-associated allele was found in 29/86 (33.7%) of Polish CD patients and in 9/83 (10.8%) of healthy controls (p<0.001). In both CD patients and controls in Bosnian sample, at least one NOD2 mutation was found in equal number of patients (3/30; 10%) with all of the NOD2 mutation positive CD patients being homozygous, while controls being heterozygous. In Polish sample, perianal disease was less frequent in CD patients with any NOD2 mutation (1/21; 4.8%) compared to those without (11/41; 26.8%; p=0.046). Higher percentage of patients with NOD2 mutations had history of CD related surgery when compared with those without mutations (66.7% vs. 43.3%; p=0.05). The risk for CD is increased in patients with NOD2 mutations (Poland) and especially in the presence of homozygous NOD2 mutations (Poland and Bosnia). The presence of variant NOD2 alleles is associated with increased need for surgery and reduced occurrence of perianal disease.
Assuntos
Doença de Crohn/etnologia , Doença de Crohn/genética , Genótipo , Mutação/genética , Proteína Adaptadora de Sinalização NOD2/genética , Fenótipo , Adulto , Alelos , Bósnia e Herzegóvina/epidemiologia , Estudos de Casos e Controles , Doença de Crohn/epidemiologia , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Polônia/epidemiologia , Prevalência , Estudos Prospectivos , Fatores de RiscoRESUMO
INTRODUCTION: Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein. It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification. OBJECTIVES: The aim of the study was to determine the prevalence of C282Y and H63D mutations in patients with ALD and healthy individuals and to analyze laboratory data in the context of HFE gene mutation in ALD patients. PATIENTS AND METHODS: We analyzed 119 patients with ALD. The control group comprised 1516 DNA samples obtained either from cord blood or healthy subjects from the records of general practitioners. HFE mutations were detected using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: Among the ALD patients, 0.84% were homozygous and 3.36% were heterozygous for the C282Y mutation, while 5.04% were homozygous and 21.85% heterozygous for the H63D mutation. There was 1 C282Y/H63D compound heterozygote in the ALD group. In the control group, 2 homozygotes and 117 heterozygotes for the C282Y mutation were identified. As for the H63D mutation, 2.5% homozygotes, 25% heterozygotes, and 1.4% compound heterozygotes were found. There was a trend towards a more common occurrence of ALD patients homozygous for the H63D mutation. Patients with H63D genotype had higher total and low-density lipoprotein cholesterol. CONCLUSIONS: The prevalence of HFE mutations in ALD patients is similar to that observed in healthy subjects and comparable to the prevalence in other Central European countries. Our findings on lipid disturbances in the H63D heterozygotes are potentially interesting and require further studies on larger patient groups.