Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Mol Genet Metab. 2023 Nov;140(3):107655. doi: 10.1016/j.ymgme.2023.107655. Epub 2023 Jul 24.
At any age, respiratory manifestations are a major cause of increased morbidity and mortality of inherited metabolic diseases (IMDs). Type and severity are extremely variable, this depending on the type of the underlying disorder. Symptoms and signs originating from upper or lower airways and/or thoracic wall and/or respiratory muscles involvement can occur either at presentation or in the late clinical course. Acute respiratory symptoms can trigger metabolic decompensation which, in turn, makes airway symptoms worse, creating a vicious circle. We have identified 181 IMDs associated with various types of respiratory symptoms which were classified into seven groups according to the type of clinical manifestations affecting the respiratory system: (i) respiratory failure, (ii) restrictive lung disease, (iii) interstitial lung disease, (iv) lower airway disease, (v) upper airway obstruction, (vi) apnea, and (vii) other. We also provided a list of investigations to be performed based on the respiratory phenotypes and indicated the therapeutic strategies currently available for IMD-associated airway disease. This represents the thirteenth issue in a series of educational summaries providing a comprehensive and updated list of metabolic differential diagnoses according to system involvement.
在任何年龄，呼吸系统表现都是遗传性代谢疾病（IMD）发病率和死亡率增加的主要原因。其类型和严重程度差异极大，这取决于潜在疾病的类型。源自上呼吸道或下呼吸道和/或胸壁和/或呼吸肌的症状和体征可在初次就诊时或在晚期临床病程中出现。急性呼吸道症状可引发代谢失代偿，这反过来又会使气道症状恶化，形成恶性循环。我们已经确定了 181 种与各种类型的呼吸道症状相关的 IMD，根据影响呼吸系统的临床表现的类型将其分为七组：（i）呼吸衰竭，（ii）限制性肺疾病，（iii）间质性肺疾病，（iv）下呼吸道疾病，（v）上气道阻塞，（vi）呼吸暂停，和（vii）其他。我们还根据呼吸道表型提供了需要进行的检查清单，并指出了目前可用于 IMD 相关气道疾病的治疗策略。这是根据系统受累提供全面和最新的代谢鉴别诊断列表的一系列教育摘要中的第十三期。
