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Microvillous inclusion disease

Elie Abi Nader, Cécile Lambe, Cécile Talbotec, Liping Dong, Bénédicte Pigneur, Olivier Goulet
BACKGROUND: Infants with intestinal failure (IF) are at increased risk of malnutrition and require adapted nutrition support. Optimal weight gain during nutrition rehabilitation should occur at the velocity of statural age (adjusted to the 50th percentile of height) and not chronological age. The aim of this study was to assess the relationship between weight gain during catch-up growth, nonprotein energy intake (NPEI) provided by total parenteral nutrition (TPN), and resting energy expenditure (REE) in children with severe malnutrition due to IF...
January 2018: JPEN. Journal of Parenteral and Enteral Nutrition
Ozgul Bulut, Bulent Ahishali, Mine Gulluoglu, Sertac Arslanoglu
BACKGROUND: Microvillous inclusion disease (MVID) is one of the most severe congenital diarrhea disorders, caused by a genetic defect in enterocyte differentiation and polarization. CASE REPORT: We describe a neonate who presented with severe weight loss, hypernatremic dehydration and metabolic acidosis due to intractable diarrhea due to MVID, confirmed by electron microscopy. CONCLUSION: MVID can present with severe weight loss, hypernatremic dehydration and metabolic acidosis that is life threatening...
August 2017: Fetal and Pediatric Pathology
Avi Z Rosenberg, Jeffrey B Kopp
Focal segmental glomerulosclerosis (FSGS) is a leading cause of kidney disease worldwide. The presumed etiology of primary FSGS is a plasma factor with responsiveness to immunosuppressive therapy and a risk of recurrence after kidney transplant-important disease characteristics. In contrast, adaptive FSGS is associated with excessive nephron workload due to increased body size, reduced nephron capacity, or single glomerular hyperfiltration associated with certain diseases. Additional etiologies are now recognized as drivers of FSGS: high-penetrance genetic FSGS due to mutations in one of nearly 40 genes, virus-associated FSGS, and medication-associated FSGS...
March 7, 2017: Clinical Journal of the American Society of Nephrology: CJASN
Lea C Tran, Gill Lazonby, Donna Ellis, Jenny Goldthorpe, Natalia Iglesias, Julie Steele, Veena Zamvar, John W L Puntis, Rakesh Vora
No abstract text is available yet for this article.
January 2017: Journal of Pediatric Gastroenterology and Nutrition
Emmanuel Gonzales, Sarah A Taylor, Anne Davit-Spraul, Alice Thébaut, Nadège Thomassin, Catherine Guettier, Peter F Whitington, Emmanuel Jacquemin
Some patients with microvillus inclusion disease due to myosin 5B (MYO5B) mutations may develop cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity. So far MYO5B deficiency has not been reported in patients with such a cholestasis phenotype in the absence of intestinal disease. Using a new-generation sequencing approach, we identified MYO5B mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with normal serum gamma-glutamyl transferase activity without intestinal disease...
January 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Jie Pan, Cornelia Thoeni, Aleixo Muise, Herman Yeger, Ernest Cutz
We report new methods for multilabel immunofluorescence (MIF) and reprobing of antigen epitopes on the same formalin-fixed paraffin-embedded (FFPE) sections. The MIF method includes an antigen-retrieval step followed by multilabel immunostaining and examination by confocal microscopy. As examples, we illustrate epitopes localized to the apical and basolateral membranes, and the cytoplasm of enterocytes of normal small intestine and in cases of congenital enteropathies (microvillous inclusion disease and congenital tufting enteropathy)...
June 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Catarina Mendes, Catarina Figueiredo, Helena Mansilha, Elisa Proença, Dulce Oliveira, Rosa Lima, Carmen Carvalho
Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis...
August 12, 2014: Pediatric Reports
B Fernández Caamaño, M J Quiles Blanco, L Fernández Tomé, E Burgos Lizáldez, J Sarría Osés, M Molina Arias, G Prieto Bozano
INTRODUCTION: Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation. PATIENTS AND METHODS: A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013...
September 2015: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
Brock A Martin, John A Kerner, Florette K Hazard, Teri A Longacre
Congenital enteropathies are rare disorders with significant clinical consequences; however, definitive diagnosis based on morphologic assessment of duodenal biopsies with routine stains alone is often impossible. To determine the role of immunohistochemistry (IHC) in the evaluation for microvillous inclusion disease, congenital tufting enteropathy (intestinal epithelial dysplasia), and enteroendocrine cell dysgenesis, a series of duodenal biopsies from 26 pediatric patients with chronic/intractable diarrhea was retrospectively reviewed...
October 2014: American Journal of Surgical Pathology
Cornelia Thoeni, Ernest Cutz
MVID, first reported in 1972 as a familial enteropathy is a congenital disorder of intestinal mucosa characterized by villous atrophy with marked abnormalities of enterocytes which on electron microscopy (EM) show loss of apical microvilli, intracytoplasmic microvillous inclusions as well as vesicular inclusion bodies and subapical secretory-like granules. The clinical manifestations include severe malabsorption and intractable watery diarrhea starting at birth (classical MVID) or at few days or weeks of age (variant MVID)...
October 2014: Pathology
Ariane Perry, Hayet Bensallah, Christine Martinez-Vinson, Dominique Berrebi, Brigitte Arbeille, Julie Salomon, Olivier Goulet, Evelyne Marinier, Séverine Drunat, Marie-Elisabeth Samson-Bouma, Bénédicte Gérard, Jean-Pierre Hugot
OBJECTIVES: Microvillous inclusion disease (MVID) is a cause of intractable diarrhea in infancy. In its classic form, the disease is characterized by a severe persistent watery diarrhea starting within the first days of life. Parenteral nutrition and small bowel transplantation are the only known treatments for the affected children. Histologically, periodic acid-Schiff (PAS) staining shows accumulation of periodic acid-Schiff-positive staining material along the apical pole of enterocytes, whereas transmission electron microscopy exhibits microvillus inclusion bodies within the cytoplasm of enterocytes with rarefied and shortened microvilli and secretory granules...
December 2014: Journal of Pediatric Gastroenterology and Nutrition
Jitsupa Treetipsatit, Florette K Hazard
Congenital enteropathies comprise a constellation of rare clinicopathologic diagnoses characterized by intractable watery diarrhea and failure to thrive in infants. These diagnoses include, but are not limited to, tufting enteropathy (TE), microvillous inclusion disease (MID), and enteroendocrine cell dysgenesis (EED). Commonly, the diagnosis is based on identification of their characteristic histologic and/or ultrastructural features in small intestinal mucosa. In cases in which the changes in the small intestine are inconclusive or a small intestine biopsy is not performed, the diagnosis can be hampered or significantly delayed...
December 2014: American Journal of Surgical Pathology
M Lentze
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www...
May 2014: Georgian Medical News
Muriel Girard, Florence Lacaille, Virginie Verkarre, Raphael Mategot, Gerard Feldmann, Alain Grodet, Frédérique Sauvat, Sabine Irtan, Anne Davit-Spraul, Emmanuel Jacquemin, Frank Ruemmele, Dominique Rainteau, Olivier Goulet, Virginie Colomb, Christophe Chardot, Alexandra Henrion-Caude, Dominique Debray
UNLABELLED: Microvillous inclusion disease (MVID) is a congenital disorder of the enterocyte related to mutations in the MYO5B gene, leading to intractable diarrhea often necessitating intestinal transplantation (ITx). Among our cohort of 28 MVID patients, 8 developed a cholestatic liver disease akin to progressive familial intrahepatic cholestasis (PFIC). Our aim was to investigate the mechanisms by which MYO5B mutations affect hepatic biliary function and lead to cholestasis in MVID patients...
July 2014: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Tania Siahanidou, Eirini Koutsounaki, Anna-Venetia Skiathitou, Kalliopi Stefanaki, Evangelos Marinos, Ioanna Panajiotou, Giorgos Chouliaras
UNLABELLED: Microvillus inclusion disease (MVID), a rare severe congenital enteropathy characterized by intracytoplasmic microvillous inclusions and variable brush border atrophy on intestinal epithelial cells histology, is associated with defective synthesis or abnormal function of the motor protein myosin Vb encoded by the MYO5B gene. Although MYO5B gene is expressed in all epithelial tissues, it is unclear so far whether organs other than intestine are affected in MVID patients. We report a case of an infant with MVID who presented liver dysfunction, hematuria, and Pneumocystis jiroveci pneumonia during the course of the disease...
September 2013: European Journal of Pediatrics
Siham Al-Sinani, Sharef Waadallah Sharef, Ritu Lakhtakia, Mohamed Abdellatif
Microvillous Inclusion Disease (MVID) is one of the congenital diarrheal disorders (CDD) caused by genetic defects in enterocyte differentiation and polarization. Its prevalence is higher in countries with a high degree of consanguinity. It causes severe, intractable secretory diarrhea leading to permanent and definitive intestinal failure with resultant dependency on parenteral nutrition (PN). Small bowel transplantation is the only curative treatment. The gold standard for diagnosis are the typical morphological abnormalities in small bowel biopsies on light and electron microscopy (EM)...
November 2012: Oman Medical Journal
Niranjan Thomas, Anna Benjamin Pulimood, Manish Kumar, Atanu Kumar Jana
Protracted diarrhea in neonates is uncommon and usually requires an intestinal biopsy for etiological diagnosis. Gastric biopsy has not been used in the routine diagnosis of this condition. We report the first documented patient with microvillous inclusion disease from India, where the diagnosis was established by a gastric biopsy.
January 2012: Indian Pediatrics
Eleni Volonaki, Neil J Sebire, Osvaldo Borrelli, Keith J Lindley, Mamoun Elawad, Nikhil Thapar, Neil Shah
OBJECTIVES: Lower threshold and widening indications for paediatric gastrointestinal endoscopy have resulted in a significant increase in the numbers of endoscopic procedures performed in infants. Despite this, knowledge of gastrointestinal mucosal findings in this age group is limited and data on the clinical usefulness of endoscopy are lacking. METHODS: All of the children younger than 1 year referred to a single tertiary paediatric gastroenterology unit during the period June 1987 to August 2007 who underwent gastrointestinal endoscopy were identified and the clinical indications and histological outcomes were reviewed...
July 2012: Journal of Pediatric Gastroenterology and Nutrition
Geoffrey Talmon, Melissa Holzapfel, Dominick J DiMaio, David Muirhead
Microvillous inclusion disease (MVID) is a congenital condition presenting with intractable diarrhea. Biopsies demonstrate abnormal apical PAS and CD10 staining in surface enterocytes correlating with the presence of characteristic cytoplasmic inclusions. MVID has been linked to mutations in myosin Vb, important in apical membrane recycling. Rab11 associates with myosin Vb in vesicle membranes and is also integral in recycling plasma membrane components. The authors performed Rab11 immunostaining on biopsies from 7 MVID cases, 10 normal small intestines, and 10 with chronic enteritis...
June 2012: International Journal of Surgical Pathology
Julie Fuchs, Erica M Fallon, Kathleen M Gura, Mark Puder
Microvillous inclusion disease is a congenital intestinal epithelial cell disorder leading to lifelong intestinal failure. In this report, we discuss the use of a fish oil-based lipid emulsion in the treatment of 3 patients with microvillous inclusion disease who developed parenteral nutrition-associated liver disease.
December 2011: Journal of Pediatric Surgery
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