Abstract：
Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechanisms. In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidoses in general. We also address classical homocystinuria, which is a monogenic vascular disease, Hermansky-Pudlak syndrome, which is associated with disorders in the lysosomal-related-organelles, and lysinuric protein intolerance, which is due to an amino-acid transporter defect. Presentation and prognosis of these diseases are highly heterogeneous, and respiratory impairment may be central and prognostic. Many are primarily pediatric, and diagnoses are often delivered during childhood. Improved pediatric management has enabled better prognosis and new phenotype of the diseases in the adulthood. Some others can be diagnosed during adulthood. While some diseases call for specific, specialized treatment, all necessitate systematic multidisciplinary management. It is of paramount importance that a pneumologist be familiar with these phenotypes, most of which can benefit from early diagnosis and early therapeutic management with dedicated innovative treatments.
摘要：
先天性代谢疾病或先天性代谢错误包括大量罕见和异质性遗传疾病，根据其病理生理机制分为几个亚组。在这次审查中,我们关注成人有呼吸道症状的不同代谢性疾病：溶酶体鞘糖脂糖病，如酸性鞘磷脂酶缺乏症（Niemann-PickA型和B型疾病），Gaucher,法布里,Pompe病和粘多糖病一般。我们还讨论了经典的高半胱氨酸尿症，这是一种单基因血管疾病，Hermansky-Pudlak综合征,这与溶酶体相关细胞器的疾病有关，和溶血尿蛋白不耐受，这是由于氨基酸转运蛋白缺陷。这些疾病的表现和预后是高度异质性的，和呼吸损伤可能是中枢和预后。许多人主要是儿科，诊断通常在儿童时期进行。改善儿科管理使成年期疾病的预后和新表型更好。有些人可以在成年期被诊断出来。虽然有些疾病需要特定的，专门治疗,所有这些都需要系统的多学科管理。最重要的是，肺炎学家熟悉这些表型，其中大多数可以受益于早期诊断和早期治疗管理与专门的创新治疗。
