两例由该基因新突变引起的微绒毛包涵体病。
Two cases of microvillous inclusion disease caused by novel mutations in gene.
作者信息
Comegna Marika, Amato Felice, Liguori Renato, Berni Canani Roberto, Spagnuolo Maria Immacolata, Morroni Manrico, Guarino Alfredo, Castaldo Giuseppe
机构信息
Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università di Napoli Federico II Naples Italy.
CEINGE-Biotecnologie Avanzate Naples Italy.
出版信息
Clin Case Rep. 2018 Oct 30;6(12):2451-2456. doi: 10.1002/ccr3.1879. eCollection 2018 Dec.
Abstract
Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this disease that may be easily misdiagnosed.
摘要
微绒毛包涵体病（MVID）通常在出生后的几天内出现严重的慢性腹泻，并迅速导致脱水和代谢性酸中毒。在此背景下，我们呈现两例新病例，强调了突变分析对于诊断这种可能容易被误诊的疾病的至关重要性。
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