Microvillous inclusion disease
Medical condition
From Wikipedia, the free encyclopedia
Microvillus inclusion disease, previously known as Davidson's disease, congenital microvillus atrophy and, less specifically, microvillus atrophy (note: microvillus is often misspelled as microvillous), is a rare genetic disorder of the small intestine that is inherited in an autosomal recessive pattern.[1][2]
| Microvillus inclusion disease | |
|---|---|
| Other names | Davidson's disease |
| |
| Microvillus inclusion disease has an autosomal recessive pattern of inheritance. | |
Presentation
It is characterized by chronic, intractable diarrhea in new-born infants, starting in the first few days of life.[3] This results in metabolic acidosis and severe dehydration. Pregnancy and birth are usually normal.[citation needed]
Pathophysiology
It is caused by a congenital villus atrophy, atrophy of apical microvilli and intracellular accumulation of apical enzymes and transporters in the epithelial cells of the small intestine.[4] MVID is in most cases caused by mutations in the MYO5B gene. Other genes are also responsible of the disease: STXBP2 or Munc18-2 (also causing Familial Hemophagocytic Lymphohistiocytosis (FHL), STX3 and UNC45A.[citation needed][5]
Diagnosis
Prenatal screening in utero is currently offered by several medical centers since the gene(s) involved in the disease were recently discovered to be MYO5B;[6][7] Diagnosis is typically made by biopsy of the small intestine.[1]
Biopsy
The appearance of microvillous inclusion disease on light microscopy is similar to celiac sprue; however, it usually lacks the intraepithelial lymphocytic infiltration characteristic of celiac sprue and stains positive for carcinoembryonic antigen (CEA).[2] The definitive diagnosis is dependent on electron microscopy.[8]
Differential diagnosis
The differential diagnosis of chronic and intractable diarrhea is:[9]
- Intestinal epithelial dysplasia
- Syndromatic diarrhea
- Immunoinflammatory enteropathy
Prognosis
It is nearly always fatal unless, like short bowel syndrome patients, treated with parenteral nutrition or an intestinal transplant.[3] The patient is often classified as being in "intestinal failure" and treated with the cohort of patients known as "short bowel syndrome" patients.[citation needed]
One patient from the UK was documented as achieving nutritional independence at age 3.[10] On 26 June 2009, a six-year-old girl with microvillus inclusion disease became the third person in the UK to die of swine flu. This was attributed to her weakened immune system.[11]
Prevalence
Microvillus inclusion disease is extremely rare, however, no prevalence data have been published. An estimate of a few hundred children with the disease in Europe has been made but no time frame to which this count applies is given. Countries with a higher degrees of consanguinity experience higher prevalence rates due to its autosomal recessive transmission.[12]
History
Microvillus inclusion disease was first described in 1978 by Davidson et al.[13] It was originally described as familial enteropathy.[citation needed]