MICROVILLUS INCLUSION DISEASE - AN INHERITED DEFECT OF BRUSH-BORDER ASSEMBLY AND DIFFERENTIATION
MICROVILLUS INCLUSION DISEASE - AN INHERITED DEFECT OF BRUSH-BORDER ASSEMBLY AND DIFFERENTIATION
复制标题
DOI：
10.1056/nejm198903093201006
复制
发表时间：
1989-03-09
影响因子：
158.5
通讯作者：
FORSTNER, GG
中科院分区：
文献类型：
--
作者：
CUTZ, E;RHOADS, JM;FORSTNER, GG
1978年，我们描述了一组以迁延性腹泻和绒毛发育不良为特征的明显家族性肠病。1对其中一例患者的空肠活检标本的表面肠细胞进行电子显微镜检查，发现特殊的胞浆内包涵体，由排列整齐的刷状边缘微绒毛组成。此后，在其他5名婴儿中也报告了类似的胞浆内包涵体，所有婴儿都在出生时或出生后不久就开始迁延性腹泻。234早期迁延性腹泻伴肠细胞微绒毛包裹体被称为先天性微绒毛萎缩，2，3先天性家族性迁延性腹泻伴肠细胞刷缘异常，或Davidson‘s。
IN 1978 we described a group of infants who presented with an apparently familial enteropathy characterized by protracted diarrhea from birth and hypoplastic villous atrophy.1Electron microscopical examination of surface enterocytes in a jejunal biopsy specimen from one of these patients revealed peculiar intracytoplasmic inclusions composed of neatly arranged brush-border microvilli. Similar intracytoplasmic inclusions have since been reported in five other infants, all of whom had protracted diarrhea starting at or soon after birth.234The constellation of early protracted diarrhea with enterocyte microvillus inclusions has been called congenital microvillus atrophy,2,3congenital familial protracted diarrhea with enterocyte brush-border abnormalities, or Davidson's . . .