Kishnani Priya S, Austin Stephanie L, Abdenur Jose E, Arn Pamela, Bali Deeksha S, Boney Anne, Chung Wendy K, Dagli Aditi I, Dale David, Koeberl Dwight, Somers Michael J, Wechsler Stephanie Burns, Weinstein David A, Wolfsdorf Joseph I, Watson Michael S
Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128.
Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for glucose 6-phosphate (GSD Ib), resulting in excessive accumulation of glycogen and fat in the liver, kidney, and intestinal mucosa. Patients with GSD I have a wide spectrum of clinical manifestations, including hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia, hyperuricemia, and growth retardation. Individuals with GSD type Ia typically have symptoms related to hypoglycemia in infancy when the interval between feedings is extended to 3–4 hours. Other manifestations of the disease vary in age of onset, rate of disease progression, and severity. In addition, patients with type Ib have neutropenia, impaired neutrophil function, and inflammatory bowel disease. This guideline for the management of GSD I was developed as an educational resource for health-care providers to facilitate prompt, accurate diagnosis and appropriate management of patients.
A national group of experts in various aspects of GSD I met to review the evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management.
This management guideline specifically addresses evaluation and diagnosis across multiple organ systems (hepatic, kidney, gastrointestinal/nutrition, hematologic, cardiovascular, reproductive) involved in GSD I. Conditions to consider in the differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, hepatic and renal transplantation, and prenatal diagnosis, are also addressed.
A guideline that facilitates accurate diagnosis and optimal management of patients with GSD I was developed. This guideline helps health-care providers recognize patients with all forms of GSD I, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It also helps to identify gaps in scientific knowledge that exist today and suggests future studies.
I型糖原贮积病（GSD I）是一种临床严重程度各异的罕见疾病，主要影响肝脏和肾脏。它由葡萄糖6磷酸酶（GSD Ia）活性不足或6磷酸葡萄糖微粒体转运蛋白缺乏（GSD Ib）引起，导致肝脏、肾脏和肠黏膜中糖原和脂肪过度蓄积。GSD I患者有广泛的临床表现，包括肝肿大、低血糖、乳酸性酸中毒、高脂血症、高尿酸血症和生长发育迟缓。Ia型GSD患者在婴儿期喂养间隔延长至3 - 4小时时通常会出现与低血糖相关的症状。该疾病的其他表现因发病年龄、疾病进展速度和严重程度而异。此外，Ib型患者有中性粒细胞减少、中性粒细胞功能受损和炎症性肠病。本GSD I管理指南是作为医疗保健提供者的教育资源而制定的，以促进对患者的及时、准确诊断和适当管理。
一组来自GSD I各方面的全国专家开会审查科学文献中的证据基础并提供他们的专家意见。在诊断、治疗和管理的每个领域达成了共识。
本管理指南特别涉及GSD I所涉及的多个器官系统（肝脏、肾脏、胃肠道/营养、血液、心血管、生殖）的评估和诊断。讨论了根据呈现特征和诊断算法在鉴别诊断中需考虑的情况。还涉及诊断评估以及营养和医疗管理方面，包括护理协调、遗传咨询、肝和肾移植以及产前诊断。
制定了一项有助于对GSD I患者进行准确诊断和优化管理的指南。该指南有助于医疗保健提供者识别所有形式GSD I的患者，加快诊断，并将延迟诊断和不适当管理导致的不良后果降至最低。它还有助于识别当今存在的科学知识差距并建议未来的研究。
