[Pulmonary phenotypes of inborn errors of metabolism]. / Manifestations pulmonaires des maladies héréditaires du métabolisme.
Rev Mal Respir
; 39(9): 758-777, 2022 Nov.
Article
en Fr
| MEDLINE
| ID: mdl-36229356
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.
Palabras clave
Acid sphingomyelinase deficiency; Diagnostic précoce; Déficit en prolidase; Fabry disease; Gaucher disease; HermanskyPudlak syndrome; Homocystinuria; Homocystinurie classique; Intolérance aux protéines dibasiques; Lysinuric protein intolerance; Maladie de Fabry; Maladie de Gaucher; Maladie de NiemannPick AB-B; Maladie de Pompe; Maltase acid deficiency; Mucopolysaccharidosis; Mucopolysasccharidoses; Prolidase deficiency; Syndrome d'HermanskyPudlak; Traitement; Treatment
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Aminoácidos
/
Enfermedades Metabólicas
/
Errores Innatos del Metabolismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Humans
Idioma:
Fr
Revista:
Rev Mal Respir
Año:
2022
Tipo del documento:
Article