$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.