从肝脏角度看MPI-CDG：两例埃及病例报告及文献综述。

Abdel Ghaffar Tawhida Y, Ng Bobby G, Elsayed Solaf M, El Naghi Suzan, Helmy Sarah, Mohammed Nermine, El Hennawy Ahmed, Freeze Hudson H

Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research Cairo Egypt.

Department of Paediatrics, Faculty of Medicine Ain Shams University Cairo Egypt.

JIMD Rep. 2020 Sep 7;56(1):20-26. doi: 10.1002/jmd2.12159. eCollection 2020 Nov.

MPI-CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato-gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI-CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension.

MPI-CDG是一种罕见的糖基化先天性疾病（CDG），表现为肝胃肠症状和低血糖。我们报告了两名因胃肠症状前来就诊的儿科患者的肝脏评估情况。对碳水化合物缺乏转铁蛋白（CDT）的分析显示为1型模式，分子分析确诊为MPI-CDG。口服甘露糖疗法在一名患者中显著有效，但在另一名出现进行性门静脉高压的患者中仅部分有效。