Neonatal Enteropathies: Defining the Causes of Protracted Diarrhea of Infancy

The underlying causes of chronic diarrhea beginning early in life are increasingly well defined. Infectious and post-infectious enteropathies and food sensitive/allergic enteropathy account for the majority of cases. Recent attention has focused on characterizing defined entities, which cause protracted diarrhea in infants and young children. Disorders of intestinal ion transport usually present at birth following a pregnancy complicated by polyhydramnios. Intestinal mucosal biopsies show normal architect with intact villus-crypt axis. Neonatal enteropathies, by contrast, are characterized by blunting of the villi. These include microvillus inclusion disease, tufting enteropathy, autoimmune enteropathy and IPEX syndrome - and it is these conditions that are the subject of the current review.

• Publication year

  2004

• Venue

  Journal of Pediatric Gastroenterology and Nutrition - JPGN

• Publication date

  2004-01-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00005176-200401000-00007PMID 14676590
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Microvillous inclusion disease.

  2004cited by this paper
• Isolated small bowel transplantation for tufting enteropathy.

  2003cited by this paper
• Induction of remission in a child with autoimmune enteropathy using mycophenolate mofetil.

  2003cited by this paper
• Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide.

  2003cited by this paper
• Intestinal ion transport and the pathophysiology of diarrhea.

  2003cited by this paper
• Adaptation of core mechanisms to generate cell polarity

  2003cited by this paper
• Successful pregnancy outcome in tufting enteropathy.

  2003cited by this paper
• The establishment of a national tissue bank for inflammatory bowel disease research in Canada.

  2003cited by this paper
• Cell biology: Just mix and patch

  2003cited by this paper
• Foxp3 programs the development and function of CD4+CD25+ regulatory T cells

  2003cited by this paper
• CD10: A Valuable Tool for the Light Microscopic Diagnosis of Microvillous Inclusion Disease (Familial Microvillous Atrophy)

  2002cited by this paper
• Toward a Molecular Understanding of Complex Childhood Enteropathies

  2002cited by this paper
• Inactivation of the transcription factor Elf3 in mice results in dysmorphogenesis and altered differentiation of intestinal epithelium.

  2002cited by this paper
• Supporting Online Material

  2002cited by this paper
• Genetics of Gastrointestinal and Hepatobiliary Disorders: Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition

  2002cited by this paper
• Autoimmune enteropathy in a child: response to infliximab therapy.

  2002cited by this paper
• Autophagocytosis of the apical membrane in microvillus inclusion disease

  2002cited by this paper
• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

  2001cited by this paper
• Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation.

  2001cited by this paper
• Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine

  2001cited by this paper
• X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

  2001cited by this paper
• Interaction of MCC2, a novel homologue of MCC tumor suppressor, with PDZ-domain Protein AIE-75.

  2001cited by this paper
• Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

  2001cited by this paper
• Intractable diarrhea in a newborn infant: microvillous inclusion disease.

  2001cited by this paper
• Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse.

  2001cited by this paper
• Microvillous inclusion disease: an evolving condition.

  2000cited by this paper
• Enterocyte apoptosis and proliferation are increased in microvillous inclusion disease (familial microvillous atrophy).

  2000cited by this paper
• Periodic acid-Schiff staining abnormality in microvillous atrophy: photometric and ultrastructural studies.

  2000cited by this paper
• Microvillus Inclusion Disease: A Genetic Defect Affecting Apical Membrane Protein Traffic in Intestinal Epithelium

  2000cited by this paper
• Treatment of Microvillus Inclusion Disease by Intestinal Transplantation

  2000cited by this paper
• Microvillous inclusion disease in Japan.

  1999cited by this paper
• Autoimmune enteropathy with distinct mucosal features in T-cell activation deficiency: the contribution of T cells to the mucosal lesion.

  1999cited by this paper
• A cluster of microvillous inclusion disease in the Navajo population.

  1999cited by this paper
• AGA technical review on the evaluation and management of chronic diarrhea.

  1999cited by this paper
• Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.

  1999cited by this paper
• Identification of an autoimmune enteropathy-related 75-kilodalton antigen.

  1999cited by this paper
• Isolated Deficient α6β4 Integrin Expression in the Gut Associated with Intractable Diarrhea

  1999cited by this paper
• Severe and protracted diarrhea: results of the 3-year SIGEP multicenter survey. Working Group of the Italian Society of Pediatric Gastroenterology and Hepatology (SIGEP).

  1999cited by this paper
• Intractable infant diarrhea with epithelial dysplasia associated with polymalformation.

  1998cited by this paper
• Combined liver and small bowel transplantation in a child with epithelial dysplasia.

  1998cited by this paper
• Abnormal expression of brush-border membrane transporters in the duodenal mucosa of two patients with microvillus inclusion disease.

  1998cited by this paper
• Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

  1998cited by this paper
• A 75‐kD autoantigen recognized by sera from patients with X‐linked autoimmune enteropathy associated with nephropathy

  1998cited by this paper
• Pretransplant management and small bowel-liver transplantation in an infant with microvillus inclusion disease.

  1998cited by this paper
• Severe and protracted diarrhea : Results of the 3-year SIGEP multicenter survey

  1997cited by this paper
• Distribution of cell adhesion molecules in infants with intestinal epithelial dysplasia (tufting enteropathy).

  1997cited by this paper
• Enteropathies associated with protracted diarrhea of infancy: clinicopathological features, cellular and molecular mechanisms.

  1997influential reference
• INVITED REVIEW ENTEROPATHIES ASSOCIATED W ITH PROTRACTED DIARRHEA OF INFANCY: Clinicopathological Features, Cellular and Molecular Mechanisms

  1997cited by this paper
• Treatment of pediatric autoimmune enteropathy with tacrolimus (FK506).

  1996cited by this paper
• Suppression of apoptosis by basement membrane requires three-dimensional tissue organization and withdrawal from the cell cycle.

  1996cited by this paper
• Combined bowel-liver transplantation in an infant with microvillous inclusion disease.

  1996cited by this paper
• Congenital microvillous atrophy.

  1995cited by this paper
• Autoimmune enteropathy with anti-goblet cell antibodies.

  1995cited by this paper
• Intractable diarrhea of infancy with epithelial and basement membrane abnormalities.

  1995cited by this paper
• Anchorage dependence, integrins, and apoptosis.

  1994cited by this paper
• Familial autoimmune enteropathy with circulating anti-bullous pemphigoid antibodies and chronic autoimmune hepatitis.

  1994cited by this paper
• Intestinal microvillous dystrophy: a variant of microvillous inclusion disease or a new entity?

  1994cited by this paper
• Successful intestinal transplantation for microvillus inclusion disease.

  1994cited by this paper
• Tufting enteropathy: a newly recognized clinicopathological entity associated with refractory diarrhea in infants.

  1994cited by this paper
• The value of polyclonal carcinoembryonic antigen immunostaining in the diagnosis of microvillous inclusion disease.

  1993cited by this paper
• The Effect of Somatostatin on Small Intestinal Transport in Intractable Diarrhoea of Infancy

  1993cited by this paper
• Gastrointestinal microvillus inclusion disease.

  1992cited by this paper
• Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor.

  1992cited by this paper
• Familial Microvillous Atrophy: A Clinicopathological Survey of 23 Cases

  1992cited by this paper
• Microvillous Inclusion Disease: The Importance of Electron Microscopy for Diagnosis

  1991cited by this paper
• Response to autoimmune enteropathy to cyclosporin A therapy.

  1991cited by this paper
• Autoimmune enteropathy and nephropathy with circulating anti-epithelial cell antibodies.

  1991cited by this paper
• Microvillus inclusion disease: In vitro jejunal electrolyte transport

  1991cited by this paper
• Effect of formula carbohydrate concentration on tolerance and macronutrient absorption in infants with severe, chronic diarrhea.

  1990cited by this paper
• Successful treatment of autoimmune enteropathy with cyclosporine.

  1990cited by this paper
• Classification of intractable diarrhea in infancy using clinical and immunohistological criteria.

  1990cited by this paper
• Role of microtubules in polarized delivery of apical membrane proteins to the brush border of the intestinal epithelium

  1989cited by this paper
• Microvillus inclusion disease: an inherited defect of brush-border assembly and differentiation.

  1989cited by this paper
• Microvillus inclusion disease: specific diagnostic features shown by alkaline phosphatase histochemistry.

  1988cited by this paper
• Urogastrone/epidermal growth factor in treatment of congenital microvillous atrophy.

  1988cited by this paper
• UROGASTRONE/EPIDERMAL GROWTH FACTOR IN TREATMENT OF CONGENITAL MICROVILLOUS ATROPHY

  1988cited by this paper
• Chronic diarrhoea in children--a nutritional disease.

  1987cited by this paper
• Congenital microvillous atrophy: specific diagnostic features.

  1985cited by this paper
• Treatment of chronic secretory diarrhea of unknown origin by lithium carbonate

  1984cited by this paper
• Treatment of chronic secretory diarrhea of unknown origin by lithium carbonate.

  1984cited by this paper
• Chronic protracted diarrhea of infancy: a nutritional disease.

  1983cited by this paper
• Intractable diarrhea in early infancy.

  1968cited by this paper

• A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation

  2025cites this paper
• Approach to Congenital Diarrhea and Enteropathies (CODEs)

  2023cites this paper
• The differential diagnoses for severe enteropathy or severely damaged small intestinal mucosa

  2023cites this paper
• Tufting enteropathy: a rare anatomical cause of small bowel diarrhoea in infants with mild or no villous abnormality

  2023influential citation
• Management of pediatric intestinal failure related to short bowel syndrome.

  2022cites this paper
• EPCAM and TROP2 share a role in claudin stabilization and development of intestinal and extraintestinal epithelia in mice

  2022cites this paper
• Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review

  2022cites this paper
• Severe congenital diarrhea secondary to tufting enteropathy. Case report

  2022cites this paper
• SPI2 T3SS effectors facilitate enterocyte apical to basolateral transmigration of Salmonella-containing vacuoles in vivo

  2021cites this paper
• Diurnal changes in the murine small intestine are disrupted by obesogenic Western Diet feeding and microbial dysbiosis

  2021cites this paper
• Gastrointestinal Problems of the Newborn

  2021cites this paper
• Gastrointestinal Pathology

  2021cites this paper
• Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations

  2021cites this paper
• Targeted HAI-2 deletion causes excessive proteolysis with prolonged active prostasin and depletion of HAI-1 monomer in intestinal but not epidermal epithelial cells.

  2021cites this paper
• Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome

  2020influential citation
• EpCAM is essential for maintenance of the small intestinal epithelium architecture via regulation of the expression and localization of proteins that compose adherens junctions

  2020cites this paper
• Secretory Diarrhea

  2020cites this paper
• Congenital Diarrheal Diseases.

  2020cites this paper
• Comprehensive Targeted Sequencing Identifies Monogenic Disorders in Patients With Early-onset Refractory Diarrhea.

  2020cites this paper
• Challenges of Microvillus Inclusion Disease in the NICU.

  2020cites this paper
• Intestinal Morphogenesis in Development, Regeneration, and Disease: The Potential Utility of Intestinal Organoids for Studying Compartmentalization of the Crypt-Villus Structure

  2020cites this paper
• Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

  2019cites this paper
• Glucocorticoids and myosin5b loss of function induce heightened PKA signaling in addition to membrane traffic defects

  2019cites this paper
• Magnolol and Honokiol Attenuate Apoptosis of Enterotoxigenic Escherichia Coli-Induced Intestinal Epithelium by Maintaining Secretion and Absorption Homeostasis and Protecting Mucosal Integrity

  2018cites this paper
• [Severe diarrhoea due to autoimmune enteropathy: Treatment and outcomes].

  2018cites this paper
• Diarrea grave por enteropatía autoinmune: tratamiento y evolución

  2018cites this paper
• EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

  2018cites this paper
• Advances in Evaluation of Chronic Diarrhea in Infants.

  2018cites this paper
• Chapter 2 AN OvERvIEw AND ONLINE REGIStRy OF MICROvILLuS INCLuSION DISEASE PAtIENtS AND tHEIR MYO 5 B MutAtIONS

  2018cites this paper
• Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy

  2018cites this paper
• Regulation of actin-based apical structures on epithelial cells

  2018cites this paper
• [Hematemesis as debut of eosinophilic gastroenteritis in infants].

  2018cites this paper
• Functions of EpCAM in physiological processes and diseases (Review)

  2018cites this paper
• Severe diarrhoea due to autoimmune enteropathy: Treatment and outcomes

  2018cites this paper
• Hematemesis as debut of eosinophilic gastroenteritis in infants

  2018cites this paper
• Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease

  2018cites this paper
• Prenatal Bowel Findings in Male Siblings With a Confirmed FOXP3 Mutation

  2018cites this paper
• Diarrea grave por enteropatía autoinmune: tratamiento y evolución

  2017cites this paper
• Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.

  2017cites this paper
• Microvillus Inclusion Disease Variant in an Infant with Intractable Diarrhea

  2017cites this paper
• A Case Study of Intractable Diarrhea Due to Neonatal Microvillous Inclusion Disease

  2017cites this paper
• Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD

  2017cites this paper
• Detection of parasites in children with chronic diarrhea

  2016cites this paper
• Novel approaches: Tissue engineering and stem cells--In vitro modelling of the gut.

  2016cites this paper
• Physiology of the Gastrointestinal Tract in Newborns

  2016cites this paper
• Microvillus inclusion disease: a subtotal enterectomy as a bridge to transplantation

  2016influential citation
• Identification of intestinal ion transport defects in microvillus inclusion disease.

  2016influential citation
• Enteropathies of infancy

  2015cites this paper
• Enteropatía en penacho: reporte de un caso, metodología de estudio de la biopsia y diagnósticos diferenciales

  2015cites this paper
• Villin Immunohistochemistry Is a Reliable Method for Diagnosing Microvillus Inclusion Disease

  2015cites this paper
• A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge

  2014cites this paper
• A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy

  2014influential citation
• Loss of syntaxin 3 causes variant microvillus inclusion disease.

  2014cites this paper
• Functional consequences of EpCam mutation in mice and men.

  2014cites this paper
• Recent advances in molecular pathology of microvillus inclusion disease (MVID)

  2014cites this paper
• Evaluation of Intestinal Biopsies for Pediatric Enteropathy: A Proposed Immunohistochemical Panel Approach

  2014cites this paper
• A novel compound-heterozygous EpCAM mutation in Tufting Enteropathy

  2014cites this paper
• Tufting Enteropathy Revisited: The Utility of MOC31 (EpCAM) Immunohistochemistry in Diagnosis

  2014cites this paper
• Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Traffic and Cell Polarity

  2014cites this paper
• Bitterness of Glucose/Galactose: Novel Mutations in the SLC5A1 Gene

  2014cites this paper
• Tufting enteropathy with EpCAM mutation: case report

  2014cites this paper
• Mutation of EpCAM leads to intestinal barrier and ion transport dysfunction

  2014cites this paper
• Features of Gastric and Colonic Mucosa in Congenital Enteropathies: A Study in Histology and Immunohistochemistry

  2014cites this paper
• Multiple Hepatic Adenomas in a Child with Microvillus Inclusion Disease

  2013cites this paper
• Diarrheal Illness in the Pediatric Population: A Review of Neonatal Enteropathies and Childhood Idiopathic Inflammatory Bowel Disease.

  2013cites this paper
• Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings.

  2013cites this paper
• An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

  2013cites this paper
• 184 Approach to a Child with Malabsorption

  2012cites this paper
• Physiology of the gastrointestinal tract

  2012cites this paper
• Chronic diarrhea in children.

  2012cites this paper
• Gastrointestinal Endoscopy and Mucosal Biopsy in the First Year of Life: Indications and Outcome

  2012cites this paper
• Microvillous inclusion disease diagnosed by gastric biopsy.

  2012cites this paper
• Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

  2012cites this paper
• Microvillus Inclusion Disease. Lessons about the apical plasma membrane.

  2011cites this paper
• Microvillous Inclusion Disease—An Ultrastructural Diagnosis: With a Review of the Literature

  2011cites this paper
• Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

  2011cites this paper
• 66 – Gastrointestinal Pathology

  2011cites this paper
• Severe Hypernatremic Dehydration and Metabolic Acidosis due to Neonatal Intestinal Microvillus Inclusion Disease

  2011cites this paper
• Recent Progress in Congenital Diarrheal Disorders

  2011cites this paper
• Intestinal Transplantation in Children with Intestinal Failure

  2011cites this paper
• 33 – Protracted Diarrhea

  2011cites this paper
• Erratum

  2011cites this paper
• Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease

  2011cites this paper
• Further evidence for EpCAM as the gene for congenital tufting enteropathy

  2010cites this paper
• Microvillous Inclusion Disease: A Clinicopathologic Study of 17 Cases from the UK

  2010cites this paper
• THE ROLE OF HISTOPATHOLOGY IN DIAGNOSING PROTRACTED DIARRHEA OF INFANCY

  2010influential citation
• Congenital Diarrheal Disorders: Improved Understanding of Gene Defects Is Leading to Advances in Intestinal Physiology and Clinical Management

  2010cites this paper
• Tufting Enteropathy with EpCAM Mutations in Two Siblings.

  2010cites this paper
• Anatomy, Histology, Embryology, and Developmental Anomalies of the Small and Large Intestine

  2010cites this paper
• Diarrhea in neonatal intensive care unit.

  2010cites this paper
• Light Microscopic Diagnosis of Microvillus Inclusion Disease on Colorectal Specimens Using CD10

  2010cites this paper
• Digestive histopathological presentation of IPEX syndrome

  2009cites this paper
• Electrolyte secretion and absorption in the small intestine and colon

  2009cites this paper
• Autoimmune enteropathy in children and adults

  2009cites this paper
• Practical pathology and genetics of Hirschsprung's disease.

  2009cites this paper
• Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

  2008cites this paper
• Desquamative Enteropathy and Pyloric Atresia Without Skin Disease Caused by a Novel Intracellular β4 Integrin Mutation

  2008cites this paper
• Identification of EpCAM as the gene for congenital tufting enteropathy.

  2008cites this paper
• [From Ipex to foxp3: a new contribution of pediatrics to the understanding of the immune system].

  2008cites this paper
• Outcome of moderate to severe malnutrition following persistent diarrhoea--a hospital-based retrospective study.

  2008cites this paper