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什么是微绒毛膜疾病?

Microvillus inclusion disease (MVID) is a rare genetic disease of the intestine that causes severediarrheaand an inability to absorb nutrients. It usually starts soon after birth and is one of a group of disorders termed congenital diarrheas.

In MVID, the surface of the cells that line the intestine does not develop normally. This causes these cells not to work properly to absorb fluid and nutrients coming into the intestine.

Several genes have been identified that are thought to be involved in MVID. Infants and children with this disease usually need specialized intravenous nutrition (parenteral nutrition) in order to grow normally and avoid dehydration.

微绒毛膜疾病的症状是什么?

Signs of MVID usually show up within hours or days after birth. However, sometimes the symptoms show up later (around two months after birth) and are less severe.

通常,婴儿患有严重的水性腹泻,不会消失,无法吸收他们吃的营养。这可能导致其他严重的并发症,例如威胁生命的脱水,要求婴儿住院。体重增加可能也很差。

是什么引起微绒毛膜疾病?

MVID is inherited as an autosomal recessive genetic trait. This means that both parents must carry a copy of the affected gene in order to pass the disease on to their child. In some families, more than one child is affected. The genes that have been identified include Myosin 5b and Syntaxin 3.

How we care for microvillus inclusion disease

The Boston Children’s HospitalDivision of Gastroenterology, Hepatology and Nutrition Programspecializes indiagnosing and treatingchildren with complex intestinal disorders, like microvillus inclusion disease. Ourcongenital enteropathy teamworks closely with multiple specialties, including the家Parenteral Nutrition Program, to provide expert, family-centered care for infants, children, and adolescents.

微绒毛膜疾病|诊断和治疗

如何诊断微绒毛膜疾病?

Diagnosing microvillus inclusion disease (MVID) involves a number of steps. First doctors will test to determine the kind ofdiarrheainvolved and which nutrients cannot be absorbed.

If they suspect a congenital diarrhea, they will need to look at a sample of the tissue in the small intestine. To do this they will need to perform a procedure called an endoscopy, which uses a small flexible viewing tube to look at the intestine and obtain tiny tissue samples (biopsies).

Once they have a sample they will look at it under a microscope as well as with a special microscope (electron microscope). Using electron microscopy, doctors can detect the main features of microvillus inclusion disease, which are tiny but distinct differences in the cells of the small intestine.

除这些测试外,医生还将进行基因检测,以查看已知导致MVID和其他先天性腹泻的基因是否存在差异。

How is microvillus inclusion disease treated?

There are currently no drug treatments for MVID. Treatment is supportive and involves long-term maintenance of nutrition and hydration withparenteral nutrition.

微绒毛膜疾病|Programs & Services

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