Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homozygous truncating mutations in STX3. Mutations in these genes disrupt trafficking between apical cargo vesicles and the apical plasma membrane. Thus, disturbed delivery of certain brush border membrane proteins is a common defect in MVID.

中文翻译：

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理解微绒毛包涵体病


微绒毛包涵体病（MVID）的特点是在婴儿期出现顽固性危及生命的水样腹泻。透射电子显微镜显示顶端微绒毛缩短或缺失，成熟肠上皮细胞中特征性微绒毛内含物以及高碘酸希夫阳性颗粒或囊泡在顶端下积聚，证实了诊断。已发现 MYO5B 突变会导致 MVID。在两名 MVID 患者中，DNA 全外显子组测序显示 STX3 存在纯合截短突变。这些基因的突变破坏了顶端货物囊泡和顶端质膜之间的运输。因此，某些刷状缘膜蛋白的传递受到干扰是 MVID 的常见缺陷。