jueves, 24 de julio de 2014

Microvillus inclusion disease - Genetics Home Reference

Microvillus inclusion disease - Genetics Home Reference

New on the MedlinePlus Diarrhea page:



07/22/2014 11:30 PM EDT

Source: National Library of Medicine - NIH
Genetics Home Reference: your guide to understanding genetic conditions

Microvillus inclusion disease

Reviewed July 2014

What is microvillus inclusion disease?

Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.
Microvillus inclusion disease prevents the absorption of nutrients from food during digestion, resulting in malnutrition and dehydration. Affected infants often have difficulty gaining weight and growing at the expected rate (failure to thrive), developmental delay, liver and kidney problems, and thinning of the bones (osteoporosis). Some affected individuals develop cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis).
In individuals with microvillus inclusion disease, lifelong nutritional support is needed and given through intravenous feedings (parenteral nutrition). Even with nutritional supplementation, most children with microvillus inclusion disease do not survive beyond childhood.
A variant of microvillus inclusion disease with milder diarrhea often does not require full-time parenteral nutrition. Individuals with the variant type frequently live past childhood.

How common is microvillus inclusion disease?

The prevalence of microvillus inclusion disease is unknown. At least 200 cases have been reported in Europe, although this condition occurs worldwide.

What genes are related to microvillus inclusion disease?

Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling.
MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease.
Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in theMYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown.
Read more about the MYO5B gene.
See a list of genes associated with microvillus inclusion disease.

How do people inherit microvillus inclusion disease?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of microvillus inclusion disease?

These resources address the diagnosis or management of microvillus inclusion disease and may include treatment providers.
You might also find information on the diagnosis or management of microvillus inclusion disease inEducational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about microvillus inclusion disease?

You may find the following resources about microvillus inclusion disease helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for microvillus inclusion disease?

  • congenital enteropathy
  • congenital familial protracted diarrhea with enterocyte brush-border abnormalities
  • congenital microvillous atrophy
  • Davidson disease
  • familial protracted enteropathy
  • intractable diarrhea of infancy
  • microvillous atrophy
  • microvillous inclusion disease
  • microvillus atrophy with diarrhea 2
  • MVID
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about microvillus inclusion disease?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding microvillus inclusion disease?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (9 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Alcohol Alert Number 87

Alcohol Alert Number 87

new logo

Alcohol Alert Number 87

World image





Measuring the Burden of Alcohol 

Alcohol has been part of human culture for all of recorded history, and for most of that history people have understood its potential to harm both the person imbibing and the greater society. But measuring the true burden posed by alcohol on a local, national, and global scale can be challenging.
Researchers have tackled that challenge by creating new techniques and combining old ones to develop a more comprehensive picture of alcohol’s influence on health and economics. That picture shows a global increase in alcohol-related harms--not only from alcohol's ability to trigger alcohol abuse and alcoholism but also from its short- and long-term health consequences, including intentional and unintentional injuries, chronic and acute illnesses, and even death.
This Alert assesses alcohol’s burden on morbidity and mortality, separate from its role in alcohol use disorders. It details alcohol’s global, national, and local impact on health and the economy and its effect on different subpopulations, such as children and adolescents, college students, different ethnic groups, and women

Blood Disorders Update

Blood Disorders Update

Blood Disorders Update

New on the MedlinePlus Blood Disorders page:
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 10:43 AM EDT

Source: Merck & Co., Inc.

Leukemia Update

Leukemia Update

Leukemia Update

New on the MedlinePlus Leukemia page:
07/21/2014 08:12 PM EDT

Source: National Cancer Institute - NIH

Bleeding Disorders Update

Bleeding Disorders Update

Bleeding Disorders Update

New on the MedlinePlus Bleeding Disorders page:
07/22/2014 11:30 PM EDT

Source: National Library of Medicine - NIH
07/21/2014 08:44 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 08:44 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH
07/21/2014 08:44 AM EDT

Source: National Heart, Lung, and Blood Institute - NIH

Antibiotics Update

Antibiotics Update



Antibiotics Update

New on the MedlinePlus Antibiotics page:
07/21/2014 06:22 PM EDT

Source: Centers for Disease Control and Prevention
07/17/2014 09:00 AM EDT

Antivirals underprescribed for high-risk patients, researchers say
Source: HealthDay
07/16/2014 05:00 PM EDT

Overuse of these drugs in hospice patients raises concerns about side effects, other issues
HealthDay news image

Source: HealthDay

Heart Failure Update

Heart Failure Update



Heart Failure Update

New on the MedlinePlus Heart Failure page:
07/16/2014 02:00 PM EDT

Study finds they seem to improve survival for people taking 'water pill' diuretics
HealthDay news image

Source: HealthDay