Perineurioma of the kidney in a 7-year-old girl is described. The tumor in the upper pole was discovered during the evaluation of a urinary tract infection. The neoplasm measured 2.6 cm and radiographically it mimicked a nephroblastoma. The diagnosis of perineurioma was confirmed with histologic, immunohistochemical, and ultrastructural studies. These revealed findings typical of perineurioma of other locations. Histopathologically, differential diagnosis may include nephroblastoma, mesoblastic nephroma, neurofibroma, schwannoma, malignant peripheral nerve sheath tumor with perineural cell differentiation, and other benign and malignant mesenchymal tumors with spindle cell pattern. To the best of our knowledge, we report a unique renal perineurioma in a child.
Serological markers of coeliac disease (CD) lack diagnostic value to identify mild histopathological lesions mainly in adults at risk of CD.The aim of this study was to evaluate the usefulness of human leukocyte antigen (HLA)-DQ2/8 genotyping, followed by duodenal biopsy for the detection of CD in adult first-degree relatives (FDRs) of patients with CD.Ninety-two adult DQ2/8 positive FDRs were consecutively included. A duodenal biopsy was offered irrespective of the serology result or associated symptoms. The clinical features, associated autoimmune diseases and biochemical parameters were recorded.Sixty-seven FDRs (mean age 34 years) underwent a duodenal biopsy. Histopathological alterations were found in 32 (48%) and showed the following stages: 12 Marsh I (18%), one Marsh II (1.5%), four Marsh IIIA (6%), five Marsh IIIB (7.5%) and 10 Marsh IIIC (15%). Positive serological markers were present in 17/67 (25%), with only one showing Marsh I and the remainder presenting some degree of duodenal atrophy (Marsh III). In addition, 33/67 (54%) had gastrointestinal symptoms, with dyspepsia being the most prevalent. The distribution of symptoms, anaemia and autoimmune disease was independent of the duodenal histopathological stage. Serology-based screening would diagnose 50% of the cases showing any degree of CD spectrum and miss 6% of the cases with mucosal atrophy.Adult FDRs of patients with CD can benefit from a screening strategy on the basis of HLA-DQ genotyping, followed by a duodenal biopsy. Gastrointestinal symptoms and lymphocytic enteritis are common findings that may benefit from a gluten-free diet.
The first-degree relatives (FDRs) of patients with coeliac disease are the main risk group for disease development. The study aims to evaluate the screening strategy in FDRs with negative coeliac serology based on human leukocyte antigen (HLA) genotyping, followed by duodenal biopsy, and to analyze the prevalence of gastrointestinal symptoms and the influence of gluten intake.Adult FDRs with negative coeliac serology were invited to participate (n = 205), and a total of 139 completed the study protocol. HLA genotyping, transglutaminase antibody assessment, and duodenal biopsy were performed. Symptomatology was assessed using questionnaires during the various phases of dietary modification (baseline diet, gluten-free diet, and gluten overload).The study included 139 participants (mean age, 42 years; 53.2% women). HLA-DQ2/8 was positive in 78.4% of the participants (homozygous, 15.1%; heterozygous, 63.3%). Histopathological alterations were noted in 37.1% of participants who underwent duodenal biopsy (Marsh I, 32.7%; Marsh IIIa, 4.4%). At baseline, symptoms were observed in 45.7% of the participants, and the proportion decreased to 24.5% after the gluten-free diet (P < 0.001). Symptoms were not associated with the presence of histological alterations or genetic risk. However, younger age (odds ratio [OR] = 0.91), female sex (OR = 2.9), and the presence of autoimmune disorders (OR = 2.8) were independently associated with a significant symptom response to the gluten-free diet.Duodenal lymphocytosis and atrophy are frequently noted in FDRs, despite negative serological markers. In addition, gastrointestinal symptoms are commonly present and associated with gluten intake regardless of the histological pathology.
We present the case of a 68 year-old male patient with secondary intestinal intussuspection due to a submucous li-poma of the ileum. This is a rare entity in adults and is usually due to an organic lesion. The clinical manifestation is characterized by vomiting, abdominal pain and melenas. In our case the patient, following a colonoscopy and an abdominal CT-scan, was subjected to an extended resection of caecum and terminal ilium. At present, the precision of the etiological diagnosis of intussuspections has increased thanks to the development of image tests, like CT-scan. Early surgical treatment is recommended, without intraoperative deintussuspection given the high risk of presenting a malign or ischemic lesion in the adult.
In celiac disease there is an increase of lymphocytes expressing FOXP3 in the intestinal mucosa associated with varying degrees of villous atrophy. Our aim was to evaluate FOXP3 expression in duodenal mucosa with lymphocytic enteritis according to aetiology and correlation with lymphocytes T-γδ.We compared three adult patient groups suffering lymphocytic enteritis: celiacs following a gluten-free diet (n=12), first-degree relatives of celiac patients with genetic risks (n=14) and patients with functional dyspepsia (n=14), along with a control group not suffering from duodenal enteritis (n=16). The population of duodenal lymphocytes was analysed by immunohistochemistry assays for CD3+ characterisation and FOXP3 expression. Quantification of lymphocytes T-γδ in duodenal mucosa was performed by flow cytometry in fresh tissue samples.Presence of lymphocytes T-γδ was significantly higher in the group of celiac individuals compared to the group of relatives of these individuals (37.44 vs 5,52: p<0.0001) and the group with functional dyspepsia (37.44 vs 11.76: p=0.008). FOXP3 expression was also significantly higher in the celiac group than in the groups of relatives (18.85 vs 6.31; p=0.001) and functional dyspepsia patients (18.85 vs 7.61; p=0.023). The proportion of lymphocytes T-γδ and FOXP3- expressing lymphocytes was similar in the control group to that in the relatives or functional dyspepsia groups.Lymphocytic enteritis associated to celiac disease shows an increase of FOXP3 expression and lymphocytes T-γδ that is not detected in other etiologies of enteritis.
AIM:To evaluate the predictive value of tissue transglutaminase (tTG) antibodies for villous atrophy in adult and pediatric populations to determine if duodenal biopsy can be avoided.