MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
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DOI：
10.1002/jmd2.12159
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发表时间：
2020-11
期刊：
影响因子：
--
通讯作者：
Freeze HH
中科院分区：
文献类型：
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作者：
Abdel Ghaffar TY;Ng BG;Elsayed SM;El Naghi S;Helmy S;Mohammed N;El Hennawy A;Freeze HH
MPI - CDG是一种罕见的先天性糖基化（CDG）疾病，表现为肝-胃肠道症状和低血糖。我们报告了两名向我们提出胃肠道症状的儿科患者的肝脏评估。碳水化合物缺乏转铁蛋白（CDT）分析显示1型模式，分子分析证实MPI - CDG的诊断。口服甘露糖治疗对一名患者明显有效，但对另一名进行性门静脉高压症患者仅部分有效。
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.