title: [Fabry disease and cystinosis, two lysosomal diseases: similarities and differences].
abstract: Fabry disease and cystinosis are both lysosomal diseases. Some clinical features (such as renal and corneal involvement) are shared by both diseases whereas many other features are different (mode of inheritance, rate of progression, mechanism of lysosomal storage, therapeutic modalities etc.). Intermediary mechanisms that lead from lysosomal overload to lesions and disease are still incompletely understood.
authors.affiliation: Hôpital Necker, Université Paris Descartes, France. contact@nephropar.org
authors.forename: J-P
authors.initials: JP
authors.lastname: Grünfeld
authors.forename: A
authors.initials: A
authors.lastname: Servais
mesh_terms: D015415:Biomarkers / Q000097:blood; D003553:Cystine / Q000097:blood; D003554:Cystinosis / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D003937:Diagnosis, Differential; D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000473:pathology; D007674:Kidney Diseases / Q000209:etiology; D008247:Lysosomes / Q000473:pathology; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D015415:Biomarkers; D003553:Cystine; D000519:alpha-Galactosidase