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.