Microvillus inclusion disease

Title

Other Names:

Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Davidson disease; Microvillus atrophy, congenital; Congenital familial protracted diarrhea with enterocyte brush-border abnormalities; Intractable diarrhea of infancy; Congenital familial protracted diarrhea; Congenital microvillous atrophy; Davidson's disease; Familial enteropathy, microvillus See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases

Summary Summary

Microvillus inclusion disease is an intestinal disorder characterized by severe, watery diarrhea and an inability of the intestines to absorb nutrients. Symptoms typically develop in the first days (early-onset) or first months (late-onset) of life. Without adequate water and nutrients, children with this condition can become dehydrated, suffer from malnutrition, and fail to grow and develop normally. Management is difficult and relies on total parenteral nutrition. The advent of intestinal transplantation has improved the outlook for these patients. Microvillus inclusion disease is inherited in an autosomal recessive manner.^[1]^[2]

Last updated: 10/5/2011

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Malabsorption	90%
Autosomal recessive inheritance	-
Death in infancy	-
Dehydration	-
Growth delay	-
Malnutrition	-
Protracted diarrhea	-
Villous atrophy	-

Last updated: 9/1/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

While different medications have been tried to control the severe diarrhea associated with this condition, none of them have proven effective.^[1] Children with microvillus inclusion disease are totally dependent on parenteral nutrition for nourishment. This, however, is not a long-term solution, as children who rely on this type of nutrition are at increased risk for malnutrition, dehydration, infections and liver complications. A more recent and long-term management option involves intestinal (small bowel) transplantation.^[1]^[2] Children with microvillus inclusion disease should be followed by experienced health care providers in a center which specializes in pediatric gastrointestinal disorders.^[2]

Last updated: 6/26/2012

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Microvillus inclusion disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Microvillus inclusion disease. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Microvillus inclusion disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

I have a good friend who has a 15 year-old son. The boy suffers from microvillus inclusion disease. They live in Russia. Local doctors have told her that there is no treatment for that rare disease, but we suppose that Western medicine is more developed and there is a solution. How might this condition be treated? See answer