FDepartment of Women's and Children's Healthses, Department of Women's and Children's Health, Azienda Provinciale per i Servizi Sanitari, 38122, Trento, Italy.
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, Padova, Italy.
Ital J Pediatr. 2018 Jan 25;44(1):18. doi: 10.1186/s13052-018-0456-2.
Several disorders should be considered in the case of newborns and infants experiencing acute or recurrent symptoms after food ingestion. Immune-mediated adverse food reactions are the most frequent and always to be considered. Nevertheless, in the extensive differential diagnosis, clinicians should also include inherited metabolic disorders (IMDs).This review reports clinical features and diagnostic aspects of the most common IMDs that may present with acute manifestations triggered by food intake. Major focus will be amino acid and protein metabolism defects and carbohydrate disorders.Nowadays, for many of these disorders the risk of an acute presentation triggered by food has been decreased by the introduction of expanded newborn screening (NBS). Nevertheless, clinical suspicion remains essential because some IMDs do not have still reliable markers for NBS and a false negative screening result may occur.The aim of this review is to help pediatricians to take these rare inherited disorders into account in the differential diagnosis of acute or recurrent gastrointestinal symptoms related to food intake, which may avoid delayed diagnosis and potentially life-threatening consequences.
在新生儿和婴儿摄入食物后出现急性或复发性症状的情况下，应考虑几种疾病。免疫介导的食物不良反应是最常见的，始终需要考虑。然而，在广泛的鉴别诊断中，临床医生还应包括遗传性代谢紊乱（IMD）。本综述报告了可能因食物摄入而引发急性表现的最常见 IMD 的临床特征和诊断方面。重点将放在氨基酸和蛋白质代谢缺陷以及碳水化合物疾病上。如今，对于许多这些疾病，由于扩大了新生儿筛查（NBS）的引入，由食物引发急性表现的风险已经降低。然而，临床怀疑仍然至关重要，因为一些 IMD 仍然没有可靠的 NBS 标志物，并且可能会出现假阴性筛查结果。本综述的目的是帮助儿科医生在与食物摄入相关的急性或复发性胃肠道症状的鉴别诊断中考虑这些罕见的遗传性疾病，这可能避免延迟诊断和潜在的危及生命的后果。
