-
Annals of Nutrition & Metabolism 2018Several disorders related to the ingestion of gluten are well recognized despite overlapping clinical presentations: celiac disease, an autoimmune enteropathy triggered... (Review)
Review
Several disorders related to the ingestion of gluten are well recognized despite overlapping clinical presentations: celiac disease, an autoimmune enteropathy triggered by gluten ingestions in susceptible individuals, allergy to wheat, and more recently non-celiac gluten sensitivity (NCGS). While celiac disease and wheat allergy are well-known disorders with a clear-cut diagnosis based on clinical tests and biological parameters, NCGS is a more difficult diagnosis, especially in children with functional gastrointestinal (GI) complaints. NCGS is considered a syndrome of intestinal but also extraintestinal symptoms occurring within hours, but sometimes even after several days of gluten ingestion. In children, the leading symptoms of NCGS are abdominal pain and diarrhea, while extraintestinal symptoms are rare, in contrast to adult patients. No precise diagnostic test nor specific biomarkers exist, except a rather cumbersome three-phase gluten-exposure, gluten-free diet, followed by a blinded placebo-controlled gluten challenge with crossover to provoke symptoms elicited by gluten in a reproducible manner that disappear on gluten-free alimentation. Recent data indicate that the peptide part of wheat proteins is not necessarily the sole trigger of clinical symptoms. Mono- or oligosaccharides, such as fructan and other constituents of wheat, were able to provoke GI symptoms in clinical trials. These new findings indicate that the term gluten sensitivity is probably too restrictive. The incidence of NCGS was reported in the range of 1-10% in the general population and to increase steadily; however, most data are based on patients' self-reported gluten intolerance or avoidance without a medically confirmed diagnosis. Treatment consists of gluten avoidance for at least several weeks or months. Patients with NCGS require regular reassessment for gluten tolerance allowing with time the reintroduction of increasing amounts of gluten.
Topics: Abdominal Pain; Celiac Disease; Child; Food Intolerance; Glutens; Humans; Malabsorption Syndromes; Triticum
PubMed: 30783043
DOI: 10.1159/000493929 -
Nutrients Feb 2021Intestinal failure (IF) is defined as reduction in functioning gut mass below the minimal amount necessary for adequate digestion and absorption. In most cases, IF... (Review)
Review
BACKGROUND
Intestinal failure (IF) is defined as reduction in functioning gut mass below the minimal amount necessary for adequate digestion and absorption. In most cases, IF results from intrinsic diseases of the gastrointestinal tract (digestive IF) (DIF); few cases arise from digestive vascular components, gut annexed (liver and pancreas) and extra-digestive organs or from systemic diseases (non-digestive IF) (NDIF). The present review revised etiology and treatments of DIF and NDIF, with special focus on the pathophysiological mechanisms, whereby NDIF develops.
METHODS
We performed a comprehensive search of published literature from January 2010 to the present by selecting the following search strings: "intestinal failure" OR "home parenteral nutrition" OR "short bowel syndrome" OR "chronic pseudo-obstruction" OR "chronic intestinal pseudo-obstruction" OR "autoimmune enteropathy" OR "long-term parenteral nutrition".
RESULTS
We collected overall 1656 patients with well-documented etiology of IF: 1419 with DIF (86%) and 237 with NDIF (14%), 55% males and 45% females. Among DIF cases, 66% had SBS and among NDIF cases 90% had malabsorption/maldigestion.
CONCLUSIONS
The improved availability of diagnostic and therapeutic tools has increased prevalence and life expectancy of rare and severe diseases responsible for IF. The present review greatly expands the spectrum of knowledge on the pathophysiological mechanisms through which the diseases not strictly affecting the intestine can cause IF. In view of the rarity of the majority of pediatric IF diseases, the development of IF Registries is strongly required; in fact, through information flow within the network, the Registries could improve IF knowledge and management.
Topics: Child; Humans; Intestinal Pseudo-Obstruction; Malabsorption Syndromes; Nutritional Support; Short Bowel Syndrome
PubMed: 33673586
DOI: 10.3390/nu13030786 -
Foods (Basel, Switzerland) May 2022Celiac disease (CD) is a multifactorial autoimmune enteropathy with a prevalence greater than 1% in the pediatric population. The only therapy for CD patients is a... (Review)
Review
Celiac disease (CD) is a multifactorial autoimmune enteropathy with a prevalence greater than 1% in the pediatric population. The only therapy for CD patients is a strict gluten-free diet (GFD). Gluten-free food contamination by other cereals during packaging and cooking or accidental ingestion of gluten may cause several intestinal and extraintestinal symptoms in CD patients. Therefore, the monitoring of gluten contamination in food and assessing the level of ingested gluten by analytical biomarkers has been of great interest in recent years. To this aim, small gluten immunogenic peptides (GIPs) obtained by the hydrolysis of gluten and present in urine and feces have been studied as biomarkers of gluten intake and to monitor adherence to GFD by CD patients. More recently, the use of circulating, fecal and urinary miRNAs has emerged as a novel diagnostic tool that can be potentially applied to assess adherence to GFD. Moreover, the presence of GIPs and miRNAs in both feces and urine suggests a similar excretion modality and the possibility of using urinary miRNAs, similarly to GIPs, as potential biomarkers of GFD in CD patients.
PubMed: 35626950
DOI: 10.3390/foods11101380 -
Gut and Liver May 2014To evaluate the effects of glutamine-supplemented parenteral nutrition (PN) and probiotics in adult autoimmune enteropathy (AIE) patients. Four adult AIE patients were...
To evaluate the effects of glutamine-supplemented parenteral nutrition (PN) and probiotics in adult autoimmune enteropathy (AIE) patients. Four adult AIE patients were identified from April 2006 to January 2012. Clinical and nutritional data were obtained from the patients' medical records. Glutamine-supplemented PN started immediately when the AIE diagnosis was confirmed. The total PN duration was 351 days. According to the PN prescription, the average caloric intake ranged from 20 to 25 kcal/kg/day, and the protein intake ranged from 1.2 to 1.5 g/kg/day. Alanyl-glutamine (20 g/day) was administered to AIE patients for 4 weeks followed by a 2-week break, and this treatment schedule was repeated when PN lasted for more than 6 weeks. Body weight gain and an increased serum albumin level were achieved after PN, and defecation frequency and quality also improved. Each patient received oral supplements, 250 mL of Ensure and two probiotics capsules (each capsule containing 0.5×108 colonies) three times a day when enteral nutrition started. Three AIE patients were successfully weaned off PN, and one patient died of pneumonia. Glutamine-supplemented PN and probiotics show promise in managing patients with AIE and related malnutrition.
Topics: Adult; Bifidobacterium; Enterococcus faecalis; Female; Glutamine; Humans; Lactobacillus acidophilus; Length of Stay; Male; Malnutrition; Parenteral Nutrition; Polyendocrinopathies, Autoimmune; Probiotics; Young Adult
PubMed: 24827631
DOI: 10.5009/gnl.2014.8.3.324 -
Pediatric Gastroenterology, Hepatology... Dec 2017Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of...
PURPOSE
Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children.
METHODS
Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015. Hospital charts were reviewed. Demographic data, clinical characteristics, and follow-up were recorded.
RESULTS
Thirty-five children were diagnosed with celiac disease during the study period. Mean age±standard deviation was 6.7±3.8 years (range, 2.0-14 years). There were 17 (48.6%) female patients. The average duration between onset of symptoms and diagnosis was 16.3±18.7 months. Fifteen (42.9%) patients presented with classic malabsorption symptoms, whereas 7 (20.0%) patients presented with short stature. Positive tissue transglutaminase antibodies (tTg)-immunoglobulin A (IgA) was seen in 34 (97.1%) patients. The one patient with negative tTg-IgA had IgA deficiency. Although tTG-IgA values were not available for objective documentation of compliance, clinical data (resolution of presenting abnormalities and growth improvement) assured acceptable compliance in 22 (62.9%) patients.
CONCLUSION
CD in children may present with diverse picture. Although of the small number, the non-classical presentations are not uncommon in our rural community. Gluten-free diet is the main strategy for treatment and associated with usually correction of laboratory abnormalities and improvement of growth.
PubMed: 29302503
DOI: 10.5223/pghn.2017.20.4.222 -
Gastroenterology Report Feb 2015Celiac disease is an autoimmune enteropathy caused by gluten in genetically predisposed individuals. In celiac disease, adaptive and innate immune activation results in... (Review)
Review
Celiac disease is an autoimmune enteropathy caused by gluten in genetically predisposed individuals. In celiac disease, adaptive and innate immune activation results in intestinal damage and a wide range of clinical manifestations. In the past, celiac disease was thought to result in signs and symptoms solely related to the gastrointestinal tract. Now, more than half of the adult population presents with extra-intestinal manifestations that can also be expected to improve on a gluten-free diet. For this reason, it is recommended that physicians have a low threshold of suspicion for celiac disease. Current knowledge of the immune pathogenesis of this autoimmune disease has served as a catalyst for the development of novel diagnostic tools and therapeutics. Over the years, highly sensitive and specific serological assays, in addition to genetic markers, have been found to target specific steps in the cascade pathway of celiac disease. Also the advent of the gluten challenge has enabled experts to design diagnostic algorithms and monitor clinical responses in clinical trials. The gluten challenge has provided substantial benefit in the advance of novel therapeutics as an adjuvant treatment to the gluten free diet. Generally, a strict gluten-free diet is highly burdensome to patients and can be limited in its efficacy. Alternative therapies-including gluten modification, modulation of intestinal permeability and immune response-could be central to the future treatment of celiac disease.
PubMed: 25326000
DOI: 10.1093/gastro/gou065 -
Cureus Jul 2022Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is an autoimmune disorder affecting the N-methyl-D-aspartate receptors in the central and peripheral nervous...
Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is an autoimmune disorder affecting the N-methyl-D-aspartate receptors in the central and peripheral nervous systems. Gastrointestinal (GI) complications are rarely manifested in this disease. Autoimmune dysregulation of the GI tract is considered a potential cause. We present a challenging case of a 38-year-old male with a history of newly diagnosed epilepsy. He was admitted for three weeks of confusion, hallucinations, and bizarre behavior, and was later diagnosed with anti-NMDA encephalitis from a cerebrospinal fluid (CSF) immunological study. He was treated with a five days course of intravenous immunoglobulin (IVIG) and high-dose steroids. His course was further complicated with GI obstruction and upper GI bleed. His laboratory workup showed lactic acidosis and there was a concern for ischemic bowel injury. Computed tomography (CT) of the abdomen with contrast showed diffuse moderate to pronounced dilated small intestine swirling the mesenteric vessels, concerning for intestinal vascular compromise. The patient also became tachypneic and hypoxic, requiring 6 L of oxygen with a venti-mask. CT of the chest, abdomen, and pelvis with contrast revealed saddle pulmonary embolism (PE) extending to the right and left pulmonary arteries with right heart strain. He underwent emergent explorative laparotomy and emergent catheter-directed thrombectomy. Neither necrotic bowel nor any evidence of perforation or volvulus was noted during the laparotomy; however, the small bowel and the colon were reported to be significantly dilated, hyperemic, and engorged with blood without any evidence of ischemic bowel. He had a complicated 29-day admission course and recovered functional capacity to be safely discharged to a skilled nursing facility for further care. Physicians should keep in mind the gut-brain axis and autonomic effects on gut receptors of any patient presenting with psychosis and seizure disorder to provide timely care and improve morbidity and mortality in this patient population.
PubMed: 35923480
DOI: 10.7759/cureus.26496 -
Clinical & Developmental Immunology 2007Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective... (Review)
Review
Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells.
Topics: Forkhead Transcription Factors; Genetic Diseases, X-Linked; Humans; Mutation; Polyendocrinopathies, Autoimmune; T-Lymphocytes, Regulatory
PubMed: 18317533
DOI: 10.1155/2007/89017 -
Clinical Gastroenterology and... Aug 2012Celiac disease (CD) is an autoimmune enteropathy that occurs in genetically susceptible individuals carrying the prerequisite genetic markers HLA DQ2 or DQ8. These... (Review)
Review
Celiac disease (CD) is an autoimmune enteropathy that occurs in genetically susceptible individuals carrying the prerequisite genetic markers HLA DQ2 or DQ8. These genetic markers are present in approximately 30% of the population, and the worldwide prevalence of CD is estimated to be approximately 1%-2%. Currently a gluten-free diet is the only treatment for CD, but novel therapies aimed at gluten modification are underway. This review will discuss gluten-based therapies including wheat alternatives and wheat selection, enzymatic alteration of wheat, oral enzyme supplements, and polymeric binders as exciting new therapies for treatment of CD.
Topics: Celiac Disease; Diet, Gluten-Free; Dietary Supplements; Enzyme Therapy; Glutens; Humans
PubMed: 22728383
DOI: 10.1016/j.cgh.2012.06.005 -
Frontiers in Immunology 2022Disorders of immune dysregulation following heart transplantation in children have been reported; however, the management of such disorders remains uncertain and...
Disorders of immune dysregulation following heart transplantation in children have been reported; however, the management of such disorders remains uncertain and challenging. In this case report, we describe a clinical course of a child with severe autoimmune enteropathy after a heart transplant in infancy and detail a treatment approach with abatacept and alemtuzumab. A 21-month-old girl with a medical history of congenital dilated cardiomyopathy and heart transplantation at 2 months was evaluated for chronic hematochezia. The patient underwent an extensive workup, including endoscopic biopsy which showed crypt apoptosis, similar to that seen with graft-versus-host disease (GVHD). Results of her immune workup were consistent with status post-thymectomy but also demonstrated evidence of immune dysregulation. Specifically, her immune phenotype at diagnosis demonstrated T-cell lymphopenia, restricted TCR repertoire and skewing of T-cell compartment toward memory phenotype, increase in serum soluble ILR2a, and hypergammaglobulinemia. In the absence of response to more standard immune modulation, the patient was treated with CTLA4-Ig (abatacept), followed by a combination of abatacept and a JAK inhibitor and, finally, a combination of abatacept and alemtuzumab. Following therapy with alemtuzumab, the patient achieved remission for the first time in her life. Her clinical course was complicated by a relapse after 6 months which again readily responded to alemtuzumab. Ultimately, despite these remissions, the patient suffered an additional relapse. This case highlights the challenges of neonatal thymectomy and adds new insights into the pathogenesis, diagnosis, and management of severe autoimmune enteropathy in pediatric heart transplant recipients.
Topics: Abatacept; Alemtuzumab; Female; Graft vs Host Disease; Heart Transplantation; Humans; Immunosuppressive Agents; Polyendocrinopathies, Autoimmune; Recurrence
PubMed: 35450071
DOI: 10.3389/fimmu.2022.863218