RESUMO
Mucosal prolapse syndrome (MPS) is a rare group of benign conditions characterized by a set of unifying histologic findings thought to be the result of repeated mucosal shearing and submucosal vascular congestion caused by straining. This set of conditions is often misdiagnosed as other polyposis syndromes, inflammatory bowel disease, or malignancy due to its clinical presentation, appearance, and rarity. We report a case of a 15-year-old male who presented with painless rectal bleeding. He was found to have four rectal polyps thought to be due to Peutz-Jeghers syndrome. A repeat colonoscopy with biopsies a year later revealed a diagnosis of MPS. Our case highlights the morphologic similarity between hamartomatous polyp and mucosal prolapse histology. Since MPS is a rare diagnosis even among the adult population, it has not been well described in pediatrics. This syndrome should be on the differential diagnosis for pediatric rectal polyps to prevent unnecessary invasive testing and a delay in treatment.
Assuntos
Doença Celíaca , Estudos de Casos e Controles , Doença Celíaca/diagnóstico , Criança , HumanosRESUMO
Lactose malabsorption (LM), celiac disease (CD), non-celiac gluten sensitivity (NCGS), and irritable bowel syndrome (IBS) are conditions associated with food triggers, improvement after withdrawal, treatment with dietary restriction, and subsequent nutritional detriments. LM occurs when there is incomplete hydrolysis of lactose due to lactase deficiency and frequently produces abdominal symptoms; therefore, it can cause lactose intolerance (LI). A lactose-restricted diet is frequently recommended, although it can potentially lead to nutrient deficiencies. Furthermore, lactose is an essential component of fermentable oligo-, di-, and monosaccharides and polyols (FODMAPs) and is subsequently associated with intolerance to these compounds, especially in IBS. LM commonly presents in CD. Nutritional deficits are common in CD and can continue even on a gluten-free diet (GFD). Conditions triggered by gluten are known as gluten-related disorders (GRDs), including CD, wheat allergy, and NCGS. IBS can also be associated with a gluten sensitivity. A GFD is the treatment for CD, GRDs, and gluten sensitive IBS, although compliance with this restricted diet can be difficult. Strict dietary therapies can have a negative effect on quality of life. This review aims to provide an overview of the difficult nutritional elements of these disorders, which are critical for medical providers to recognize when managing these patients.
Assuntos
Doença Celíaca/dietoterapia , Dieta Livre de Glúten , Síndrome do Intestino Irritável/dietoterapia , Intolerância à Lactose/dietoterapia , Síndromes de Malabsorção/dietoterapia , Humanos , Estado Nutricional , Qualidade de VidaRESUMO
PURPOSE OF REVIEW: The purpose of this review is to describe current updates in celiac disease. RECENT FINDINGS: Recent developments in the understanding of the pathogenesis of celiac disease continue to emerge that may implicate the role of gluten exposure. Several studies have shown that the amount of gluten consumed by the infant may affect the age of onset of celiac disease in genetically predisposed individuals. New guidelines from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition allow serology-based celiac diagnosis, omitting endoscopic biopsies, in children. Recent data and updated guidelines in adults no longer support biopsies in all patients who are genetically susceptible with celiac disease who have been identified by serology with clinical signs and symptoms of celiac disease. A new assay was identified in the immune response to epitopes of the tissue transglutaminase-deamidated gliadin peptide complex. In addition, a recent study shows that serum IL-2 elevations correlate with timing and severity of symptoms after gluten ingested in celiac disease patients. Measuring gluten immunogenic peptides (GIPs) in the stool of celiac patients may help monitor adherence to a gluten-free diet (GFD). Of importance, we should be aware that the quality of life is affected in celiac disease patients. During adolescence, the education on the importance of long-term follow-up with an adult gastroenterologist is associated with more successful rates of medical care transition for young adults with celiac disease. Latiglutenase, an orally administered mixture of two gluten-specific recombinant proteases that degrades gluten proteins into small physiologically irrelevant fragments, is currently in a phase 2 trial. Latiglutenase has shown to be safe and effective in reducing symptoms of celiac disease patients upon a GFD with improvement of quality of life. Lastly, a recent study describes a mouse model that is characteristic of celiac disease. SUMMARY: Our knowledge of celiac disease continues to grow with increasing evidence of contributory factors to its pathogenesis. There is some evidence that the quantity ingested of gluten by the infant effects the age of onset of celiac disease in genetically susceptible patients. Changes have been made to the guidelines in the diagnosis of celiac disease proposed by new studies. Recent studies have shown the significant effects on quality of life for celiac patients. As improved laboratory methods continue to be developed, these tests can have utility in both diagnosis of celiac disease and monitoring adherence to the GFD. Current therapeutic trials offer promising nondietary treatment for celiac patients. The development of an animal model can provide a better understanding of the pathogenesis of celiac disease.