microvillus inclusion disease

Microvillus Inclusion Disease (MVID) Description

Microvillus inclusion disease, also known as Davidson's disease or congenital microvillus atrophy, is a rare and severe intestinal disorder characterized by:

• Chronic, watery diarrhea: This is the primary symptom of MVID, typically beginning in the first hours to days of life. The diarrhea can be life-threatening if left untreated.
• Insufficient nutrient absorption: Due to incomplete development (hypoplasia) and/or malformation of the intestinal villi, the intestines are unable to absorb necessary nutrients from food.
• Inability to digest food: As a result of the malabsorption, infants with MVID may experience an inability to digest food, leading to severe diarrhea.

MVID is an autosomal-recessive inherited disorder, meaning that it is passed down from parents who are carriers of the mutated gene. The disease is characterized by specific histological features of the intestinal epithelium and can be diagnosed through various tests, including electron microscopy and genetic analysis.

Key Statistics:

• MVID affects approximately 1 in every 100,000 to 200,000 births.
• The disease typically begins within hours or days after birth.
• Food intake can increase the frequency of diarrhea in individuals with MVID.

References:

• [1] Description. 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.
• [9] Microvillus inclusion disease is a condition characterized by chronic, watery, life- threatening diarrhea typically beginning in the first hours to days of ...
• [11] Microvillus inclusion disease, previously known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous),

Microvillus inclusion disease (MVID) is a rare and severe intestinal disorder that can cause significant health complications in infants. The signs and symptoms of MVID typically appear within the first hours to days of life and can include:

• Chronic, watery diarrhea: This is one of the most common symptoms of MVID, and it can be life-threatening if not treated promptly [1][3][6].
• Malabsorption: Infants with MVID may have severe, watery diarrhea that doesn't go away, making it difficult for them to absorb nutrients [1].
• Dehydration: The chronic diarrhea associated with MVID can lead to dehydration, which can cause symptoms such as dry mouth, dark urine, and dizziness [8][9].
• Metabolic acidosis: Children with MVID may rapidly develop metabolic acidosis, a condition characterized by an imbalance of electrolytes in the body [5][9].
• Hypotonic dehydration: Infants with MVID may also experience hypotonic dehydration, which can cause symptoms such as low blood pressure and decreased urine output [5][9].
• Abdominal bloating: Some infants with MVID may experience abdominal bloating, which can be a sign of intestinal obstruction or other complications [8].
• Itching: In some cases, infants with MVID may experience itching, which can be a symptom of the disease itself or a complication related to the treatment [8].

These symptoms can vary in severity and may require immediate medical attention. If you suspect that your infant has MVID, it's essential to seek medical help right away.

References: [1] Context result 1 [3] Context result 3 [6] Context result 6 [8] Context result 8 [9] Context result 9

Diagnostic Testing for Microvillus Inclusion Disease

Microvillus inclusion disease (MVID) is a rare inherited intestinal disorder that can be challenging to diagnose. However, several diagnostic tests can help confirm the condition.

• Electron Microscopy: This is considered the gold standard in diagnosing MVID. Electron microscopy involves examining a tiny portion of small bowel tissue under an electron microscope to look for intracytoplasmic microvillous inclusions [7].
• Light and Electron Microscopic Histological Analysis: A combined light and electron microscopic histological analysis of small bowel biopsies can also be used to diagnose MVID. This involves examining the biopsy samples under a light microscope followed by an electron microscope to confirm the presence of microvillous inclusions [7].
• Intestinal Tissue Sample Examination: Examining an intestinal tissue sample using an electronic microscope can also help confirm a diagnosis of MVID [6].

It's worth noting that definitive diagnosis relies on demonstration of intracytoplasmic microvillous inclusions by electron microscopy, and typical features identified on light microscopy may not be sufficient to confirm the condition [8].

Current Status of Drug Treatment for Microvillus Inclusion Disease

Microvillus inclusion disease (MVID) is a rare and severe gastrointestinal disorder that affects the small intestine, leading to malabsorption and severe diarrhea. While there is no specific treatment for MVID, various drugs have been tried to manage its symptoms.

• Epidermal Growth Factor: One of the earliest attempts at treating MVID was with epidermal growth factor (EGF), which has shown some promise in improving intestinal function [3].
• Octreotide: This synthetic analogue of somatostatin has been used to reduce fluid and electrolyte loss, but its effectiveness is limited [3].
• Glutamine: As an essential amino acid, glutamine has been tried as a supplement to support intestinal health, although its benefits are still unclear [4].
• Chlorpromazine: This antipsychotic medication has been used off-label to manage diarrhea in MVID patients, but its use is not well established [3].

Recent Developments

More recent studies have focused on the potential of natural compounds and intestinal organoids to treat MVID. For example:

• Approved Natural-Compound Anti-Diarrheal: A study has shown that a specific anti-diarrheal compound can inhibit chloride and fluid secretion in MVID epithelium, offering hope for future treatment options [5].
• Intestinal Organoids: Research into intestinal organoids may lead to the development of new treatments for MVID, as these 3D cell cultures can mimic the behavior of human intestines [6].

Current Treatment Approach

While there is no curative therapy for MVID, treatment typically involves:

• Total Parenteral Nutrition (TPN): Providing essential nutrients directly into the bloodstream to support growth and development.
• Intestinal Transplantation: In severe cases, intestinal transplantation may be considered when long-term parenteral nutrition becomes necessary [7].
• Fluid Replacement: Managing severe diarrhea and dehydration through fluid replacement therapy.

It's essential to note that treatment for MVID is highly individualized and often requires a multidisciplinary approach. Further research into the pathophysiology of MVID and potential treatments is ongoing, offering hope for improved management and potentially even cure in the future.

References:

[3] Oct 6, 2017 [4] by M Kalashyan [5] by M Kalashyan [6] Feb 22, 2024 [7] To date, there is no curative therapy for MVID.

Differential Diagnosis of Microvillus Inclusion Disease

Microvillus inclusion disease (MVID) is a rare genetic disorder that affects the small intestine, causing severe diarrhea and malabsorption of nutrients. The differential diagnosis of MVID includes several conditions that present with similar symptoms.

• Autoimmune Enteropathy: This is a rare condition characterized by inflammation of the small intestine, leading to malabsorption and diarrhea [1][2].
• Chloride Diarrhea: A congenital disorder that affects the absorption of chloride ions in the small intestine, resulting in severe diarrhea [3].
• Congenital Sodium Diarrhea: Another rare condition that affects the absorption of sodium ions in the small intestine, leading to severe diarrhea and electrolyte imbalances [4].
• Epithelial Dysplasia (Tufting Enteropathy): A rare congenital disorder characterized by abnormal growth of intestinal epithelial cells, leading to malabsorption and diarrhea [5].

These conditions can be challenging to diagnose, as they present with similar symptoms. However, a comprehensive evaluation, including laboratory tests and histopathological examination, is essential to determine the correct diagnosis.

References:

[1] The differential diagnosis includes rare congenital enteropathies such as autoimmune enteropathy... (Search Result 1) [2] Microvillus inclusion disease (MVID) is an extremely rare inherited intestinal disorder that is typically apparent within hours or days after birth, and its differential diagnosis includes entities described later, notably TE and AE. (Search Result 8) [3] by S Al-Sinani · 2012 · Cited by 8 — Differential diagnosis included secretory form of CDD with secondary lactic acidosis and renal tubular acidosis. (Search Result 3) [4] by FM Ruemmele · 2006 · Cited by 164 — Differential diagnosis. Epithelial dysplasia (tufting enteropathy), inflammatory bowel disorder, autoimmune enteropathies, chloride or sodium diarrhea, Na-H ... (Search Result 4)