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Hepatic glycogen storage disorders: what have we learned in recent years?

机译:肝糖原贮积症:近年来我们学到了什么?

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摘要

PURPOSE OF REVIEW Glycogen storage disorders (GSDs) are inborn errors of metabolism with abnormal storage or utilization of glycogen. The present review focuses on recent advances in hepatic GSD types I, III and VI/IX, with emphasis on clinical aspects and treatment. RECENT FINDINGS Evidence accumulates that poor metabolic control is a risk factor for the development of long-term complications, such as liver adenomas, low bone density/osteoporosis, and kidney disease in GSD I. However, mechanisms leading to these complications remain poorly understood and are being investigated. Molecular causes underlying neutropenia and neutrophil dysfunction in GSD I have been elucidated. Case series provide new insights into the natural course and outcome of GSD types VI and IX. For GSD III, a high protein/fat diet has been reported to improve (cardio)myopathy, but the beneficial effect of this dietary concept on muscle and liver disease manifestations needs to be further established in prospective studies. SUMMARY Although further knowledge has been gained regarding pathophysiology, disease course, treatment, and complications of hepatic GSDs, more controlled prospective studies are needed to assess effects of different dietary and medical treatment options on long-term outcome and quality of life.
机译:审查的目的糖原贮积症(GSD)是先天性的代谢错误,伴有糖原的异常贮藏或利用。本综述侧重于I型,III型和VI / IX型肝GSD的最新进展,重点是临床方面和治疗。最近的发现表明,代谢控制不佳是长期并发症(例如肝腺瘤,低骨密度/骨质疏松和GSD I中的肾脏疾病)发展的危险因素。然而,导致这些并发症的机制仍然知之甚少,正在调查中。阐明了GSD I中潜在的中性粒细胞减少和中性粒细胞功能障碍的分子原因。案例系列提供了对GSD VI和IX类型的自然过程和结果的新见解。对于GSD III,据报道,高蛋白/脂肪饮食可改善(心肌)肌病,但这种饮食概念对肌肉和肝脏疾病表现的有益作用需要在前瞻性研究中进一步确立。总结尽管已经获得了有关肝GSD的病理生理学,病程,治疗和并发症的更多知识,但仍需要进行更严格的前瞻性研究,以评估不同饮食和药物治疗方案对长期结局和生活质量的影响。

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