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$Unique_ID{BRK04002}
$Pretitle{}
$Title{Microvillus Inclusion Disease}
$Subject{Microvillus Inclusion Disease Congenital Familial Protracted Diarrhea
Congenital Microvillus Atrophy Davidson's Disease Familial Enteropathy Lactose
Intolerance Familial Chloride Diarrhea Infantile Diarrhea With Abnormal Hair
Congenital Sodium Diarrhea }
$Volume{}
$Log{}
Copyright (C) 1989 National Organization for Rare Disorders, Inc.
709:
Microvillus Inclusion Disease
** IMPORTANT **
It is possible that the main title of the article (Microvillus Inclusion
Disease) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
Congenital Familial Protracted Diarrhea
Congenital Microvillus Atrophy
Davidson's Disease
Familial Enteropathy
Information on the following diseases can be found in the Related
Disorders section of this report:
Lactose Intolerance
Familial Chloride Diarrhea
Infantile Diarrhea With Abnormal Hair
Congenital Sodium Diarrhea
General Discussion
** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only. It should not be used for diagnostic or treatment
purposes. If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.
Microvillus Inclusion Disease causes chronic, severe, watery diarrhea in
infants starting at birth or within seventy-two hours after birth. The
disorder progresses as the child matures.
Symptoms
Microvillus Inclusion Disease is characterized by severe, large amounts of
watery diarrhea appearing at birth or within seventy-two hours. The diarrhea
persists even after oral feeding is stopped and does not decrease with age.
Infants affected by this disorder require total intravenous feeding. The
diarrhea often results in dehydration and acidosis which may cause kidney
failure, requiring the infant to be hospitalized. There may also be related
growth retardation and developmental delay.
Causes
Microvillus Inclusion Disease is thought to be caused by a basic defect in
the cells in the intestinal wall (brush-border assembly and differentiation)
of the small intestine and colon. It is inherited as an autosomal recessive
genetic trait.
Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother. In recessive disorders, the condition does not appear unless a
person inherits the same defective gene for the same trait from each parent.
If one receives one normal gene and one gene for the disease, the person will
be a carrier for the disease, but usually will show no symptoms. The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent. Fifty percent of
their children will be carriers, but healthy as described above. Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.
Affected Population
Microvillus Inclusion Disease affects males and females in equal numbers. It
is evident at birth or within seventy-two hours after birth.
Related Disorders
Symptoms of the following disorders can be similar to those of Microvillus
Inclusion Disease. Comparisons may be useful for a differential diagnosis:
Lactose Intolerance is a malabsorption syndrome which results from
impaired absorption of a sugar found in milk (lactose). This nutrient are
normally absorbed in the small bowel. Lactose Intolerance is characterized
by diarrhea and abdominal distention causing stomach pain and gas
(flatulence) occuring after ingestion of milk. A lack of one or more
intestinal enzymes results in an inability to digest certain carbohydrates.
Lactase, maltase, isomaltase, and sucrase usually split complex sugars into
simple sugars. In patients with an intolerance for Lactose, the enzyme
lactase which digests this sugar in the small bowel is lacking. (For more
information on this disorder, choose "Lactose" as your search term in the
Rare Disease Database).
Familial Chloride Diarrhea is a malabsorption syndrome of autosomal
recessive inheritance. This disorder is apparent during the first few weeks
of life and is characterized by an abnormally large number of watery stools
containing an excess of chloride. Infants born with this disorder are often
premature.
Infantile Diarrhea with Abnormal Hair is another malabsorption syndrome
of autosomal recessive inheritance. The disorder usually develops around the
third week of life with a rapidly progressive course. It is characterized by
severe unexplained diarrhea, low birth weight and large, low-set, simple
ears, flat nasal bridge, and large mouth. Black, kinky hair that easily
falls out and a lack of normal amino acids is another feature of this
syndrome.
Congenital Sodium Diarrhea is inherited as a recessive genetic trait. It
occurs as a result of a defective sodium exchange in the bowels. The
disorder is usually present at birth and is characterized by profuse watery
diarrhea and a swollen abdomen.
Therapies: Standard
Treatment of Microvillus Inclusion Disease is accomplished through
intravenous feeding. There may be long-term complications of the intravenous
feeding such as: blood poisoning (septicemia), liver failure (cirrhosis), and
gallbladder disorders that affect children with Microvillus Inclusion
Disease. Therefore, the affected child must be carefully monitored by a
physician. Other treatment of Microvillus Inclusion Disease is symptomatic
and supportive. Genetic counseling will be of benefit for patients and their
families.
Therapies: Investigational
Scientists have been testing an analogue of somatostatin (Sandostatin) for
treatment of prolonged diarrhea. It shows some promise in decreasing the
amount of diarrhea which results in excessive loss of fluid (dehydration).
This disease entry is based upon medical information available through
December 1989. Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate. Please check with the agencies listed in the Resources section for
the most current information about this disorder.
Resources
For more information on Microvillus Inclusion Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
National Digestive Diseases Information Clearinghouse
Box NDDIC
Bethesda, MD 20892
(301) 468-6344
For genetic information and genetic counseling referrals:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
MICROVILLUS INCLUSION DISEASE: AN INHERITED DEFECT OF BRUSH-BORDER
ASSEMBLY AND DIFFERENTIATION, E. Cutz, et al.; New Eng J of Med, (March, 9,
1989, issue 320 (10)). Pp. 646-651.
BIOCHEMICAL ABNORMALITY IN BRUSH BORDER MEMBRANE PROTEIN OF A PATIENT
WITH CONGENITAL MICROVILLUS ATROPHY. L. Carruthers, et al.; J Pediatr
Gastroenterol Nutr (December, 1985, issue 4 (6)). Pp. 902-907.
MICROVILLUS INCLUSION DISEASE: SPECIFIC DIAGNOSTIC FEATURES SHOWN BY
ALKALINE PHOSPHATASE HISTOCHEMISTRY. B.D. Lake, J Clin Pathol (August, 1988,
issue 41 (8)). Pp. 880-882.