Fernández Caamaño B, Quiles Blanco M J, Fernández Tomé L, Burgos Lizáldez E, Sarría Osés J, Molina Arias M, Prieto Bozano G
Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
An Pediatr (Barc). 2015 Sep;83(3):160-5. doi: 10.1016/j.anpedi.2014.11.013. Epub 2014 Dec 26.
Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation.
A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013.
All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation.
微绒毛包涵体病是一种罕见的常染色体隐性疾病，其特征为严重的分泌性腹泻，可导致永久性肠衰竭并依赖肠外营养。该病通常始于新生儿期，目前唯一的治疗方法是肠道移植。
对1998年至2013年间诊断为微绒毛包涵体病的6例患者（3例男性和3例女性）进行了回顾性研究。
所有患者均在出生后第一个月发病，中位年龄为3天（范围3 - 30天），有依赖肠外营养的分泌性腹泻，禁食时粪便量为150 - 200ml/kg/天。十二指肠活检样本的光镜检查显示不同程度的绒毛萎缩，无隐窝增生，肠上皮细胞刷状缘细胞质中有PAS阳性物质积聚，抗CD10免疫染色提示胞质内包涵体。通过电子显微镜进行诊断确认。其中2例进行了基因研究，显示MYO5B基因存在突变。3例死亡，3例存活；其中2例接受了肠道移植，第3例正在等待多脏器移植。
