About microvillus inclusion disease
What is microvillus inclusion disease?
Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of necessary nutrients due to incomplete development (hypoplasia) and/or degeneration (atrophy) of certain cells of the wall of the small intestine (e.g., hypoplastic villus atrophy, defective brush-border assembly and differentiation). In infants with microvillus inclusion disease, chronic diarrhea and malabsorption may result in severe dehydration, deficiency of necessary nutrients (malnutrition), a failure to grow and gain weight at the expected rate (failure to thrive), and/or disturbance of the body's balance of acids and bases, which is essential in regulating the body's composition of bodily fluids (acidosis). Microvillus inclusion disease is inherited as an autosomal recessive genetic trait.
What are the symptoms for microvillus inclusion disease?
MVID is characterized by severe, large amounts of watery Diarrhea appearing at birth or within seventy-two hours. Symptoms of a rare late onset form may not occur until two or three months after birth. Diarrhea persists even after oral feeding is stopped and does not decrease with age. Diarrhea often worsens after feeding because of malabsorption of necessary nutrients. The Diarrhea often results in life-threatening complications, specifically severe Dehydration and metabolic acidosis, which may cause kidney failure, requiring the infant to be hospitalized. There may also be related Weight loss, growth retardation and developmental delay.
Infants affected by this disorder require total intravenous hydration and total parenteral nutrition (TPN). TPN may be associated with an increased risk of developing blockage of the liver or bile ducts preventing the normal flow of bile (cholestasis) and liver failure. Liver disease and cholestatis can also occur independent of TPN due to the genetic defect in bile duct cells.
What are the causes for microvillus inclusion disease?
MVID is caused by loss of function changes (mutations) in myosin Vb (Myo5b) gene, a molecular motor gene that is responsible for traffic of proteins into the brush border of epithelial cells. Most cases of MVID are caused by mutations in Myo5b. However, some patients with MVID with late presentation and milder disease have been reported to have mutations in syntaxin 3, a gene for a SNARE protein that is responsible for vesicle fusion with the membrane.
MVID follows an autosomal recessive pattern of inheritance. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.
All individuals carry a few abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder. MVID has been reported in consanguineous families.
What are the treatments for microvillus inclusion disease?
No effective drug treatment is available. Treatment of MVID is accomplished through intravenous feeding called total parenteral nutrition (TPN).
However, chronic TPN carries with it high risks of infection (sepsis), liver damage and other organ disorders. Therefore, the affected child must be carefully monitored by a physician.
Some children with severe disease have been treated with transplantation of a part of the small intestine.
Other treatment is symptomatic and supportive. Genetic counseling is recommended for affected individuals and their families.
Is there a cure/medications for microvillus inclusion disease?
Microvillus inclusion disease is a genetic characteristic that is carried as an autosomal recessive trait. This implies that the disorder is transmitted by a gene on a chromosome that does not have a role in defining a person's gender.
- Both males and females can be infected, though it appears to affect females more frequently.
- Because this gene is recessive, both parents have it to pass the condition on to their child.
- More than one kid is impacted in some households.
- Those with a family background of microvillus inclusion disease may benefit from genetic counseling when planning for children, but there is no way to anticipate or control microvillus inclusion disease at this time.
- Microvillus inclusion disease symptoms typically appear within hours or days of birth; however, symptoms may appear later (about two months after birth) and/or be less severe.
Cure for Microvillus Inclusion Disease
- Various medicines have been tried in the past to control or counteract extreme diarrhea, but none have proven beneficial.
- Infants with microvillus inclusion disease require nutritionally balanced formulas administered directly into the veins (intravenously), sometimes referred to total parenteral nutrition (TPN).
- TPN can help a baby's health stabilize, but it is not always a good long-term treatment.
- TPN can damage the liver and raise the infection risk over time.
- When TPN causes severe difficulties, intestine transplantation is frequently the best option.
Abdominal distention,Abnormal renal physiology,Abnormality of small intestinal villus morphology,Global developmental delay,Hypovolemia,Nephrocalcinosis,Pruritus,Villous atrophy
Total parenteral nutrition (TPN),Antisecretagogue agents (eg, somatostatin, octreotide, loperamide, chlorpromazine) can reduce the stool output
Watery stool,Abnormal shape of small intestinal villus,Renal functional abnormality,Distended abdomen,Villous degeneration,Skin itching,Retarded psychomotor development,Depleted blood volume