Kovilveettil Arya Nair
Department of Trauma and Surgery, Midcheshire NHS Foundation Trust, United Kingdom.
Gastroenterol Hepatol Bed Bench. 2025;18(1):6-9. doi: 10.22037/ghfbb.v18i1.3069.
Microvillus inclusion disease (MVD) is a rare autosomal recessive disease that was first discovered in 1978 by Davidson et al., with significant mortality and morbidity within the first year of life. It presents mainly with abdominal symptoms like diarrhoea, abdominal distension, vomiting electrolyte imbalance. Sometimes, depending on the genetic mutation involved, the phenotypic manifestation can vary. Certain genetic mutations are associated with cholestasis, dilated bowel loops, and metabolic acidosis, whereas some present with nystagmus and reduced visual acuity. Electron microscopy of the duodenal biopsy sample is used as a diagnostic tool. Absence or shortening of apical microvilli with microvillus inclusion bodies in mature enterocytes, which are pathognomonic to MVD alongside periodic acid Schiff (PAS)-positive granules or vesicles in the immature enterocytes.
微绒毛包涵体病（MVD）是一种罕见的常染色体隐性疾病，于1978年由戴维森等人首次发现，在生命的第一年具有很高的死亡率和发病率。它主要表现为腹部症状，如腹泻、腹胀、呕吐、电解质失衡。有时，根据所涉及的基因突变，表型表现会有所不同。某些基因突变与胆汁淤积、肠袢扩张和代谢性酸中毒有关，而有些则表现为眼球震颤和视力下降。十二指肠活检样本的电子显微镜检查用作诊断工具。成熟肠细胞中顶端微绒毛缺失或缩短并伴有微绒毛包涵体，这是MVD的特征性表现，同时未成熟肠细胞中有过碘酸希夫（PAS）阳性颗粒或小泡。
