Congenital disorders of glycosylation (CDGs) are clinically heterogeneous disorders defined by a decreased ability to modify biomolecules with oligosaccharides. Critical disruptions in protein recognition, interaction, binding, and anchoring lead to broad physiological effects. Patients present with endocrinopathy, immunodeficiency, hepatopathy, coagulopathy, and neurodevelopmental impairment. Patients may experience mortality/morbidity associated with shock physiology that is frequently culture negative and poorly responsive to standard care. Oedema, pleural and pericardial effusions, ascites, proteinuria, and protein‐losing enteropathy are observed with an exaggerated inflammatory response. The negative serum protein steady state results from several mechanisms including reduced hepatic synthesis and secretion, increased consumption, and extravasation. Disruption of the glycocalyx, a layer of glycosylated proteins that lines the endothelium preventing thrombosis and extravasation, is a suspected cause of endothelial dysfunction in CDG patients. We performed a retrospective review of CDG patients admitted to our institution with acute illness over the past 2 years. Longitudinal clinical and laboratory data collected during the sick and well states were assessed for biomarkers of inflammation and efficacy of interventions. Six patients representing 4 CDG subtypes and 14 hospitalisations were identified. Acute D‐dimer elevation, proteinuria, decreased serum total protein levels, coagulation proteins, and albumin were observed with acute illness. Infusion of fresh frozen plasma, and in some cases protein C concentrate, was associated with clinical and biomarker improvement. This was notable with intra‐patient comparison of treated vs untreated courses. Use of endothelial barrier support therapy may reduce endothelial permeability by restoring both regulatory serum protein homeostasis and supporting the glycocalyx and is likely a critical component of care for this population.

中文翻译：

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内皮屏障支持治疗先天性糖基化障碍的新兴作用。

先天性糖基化障碍 (CDG) 是临床异质性疾病，定义为用寡糖修饰生物分子的能力下降。蛋白质识别、相互作用、结合和锚定的严重破坏会导致广泛的生理效应。患者表现为内分泌病、免疫缺陷、肝病、凝血病和神经发育障碍。患者可能会经历与休克生理相关的死亡率/发病率，这通常是培养阴性并且对标准护理反应不佳。观察到水肿、胸腔和心包积液、腹水、蛋白尿和蛋白丢失性肠病伴随着过度的炎症反应。阴性血清蛋白稳态由多种机制引起，包括肝脏合成和分泌减少、消耗增加、和外渗。糖萼的破坏是一种内皮内衬防止血栓形成和外渗的糖基化蛋白质，是 CDG 患者内皮功能障碍的可疑原因。我们对过去 2 年因急性疾病入院的 CDG 患者进行了回顾性研究。评估在病态和健康状态期间收集的纵向临床和实验室数据的炎症生物标志物和干预措施的功效。确定了代表 4 个 CDG 亚型和 14 例住院治疗的 6 名患者。在急性疾病中观察到急性 D-二聚体升高、蛋白尿、血清总蛋白水平、凝血蛋白和白蛋白降低。输注新鲜冷冻血浆和某些情况下的蛋白 C 浓缩物与临床和生物标志物的改善有关。这在治疗与未治疗课程的患者内比较中值得注意。使用内皮屏障支持疗法可以通过恢复调节性血清蛋白稳态和支持糖萼来降低内皮通透性，并且可能是该人群护理的关键组成部分。