title: Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression.
abstract: Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We report a case of a male Fabry patient with the pN215S mutation and a generalized disease. He suffered a relapse in proteinuria which responded to increased doses of the administered recombinant enzyme. Individualization of enzyme replacement therapy must be considered in selected cases characterized by clinical deterioration.
authors.affiliation: Nephrology, General Hospital of Rhodes, Rhodes, Greece. Electronic address: chpaliouras@yahoo.gr.
authors.forename: Christos
authors.initials: C
authors.lastname: Paliouras
authors.affiliation: Acute Medical Unit, Antrim Area Hospital, Northern Ireland, United Kingdom.
authors.forename: Georgios
authors.initials: G
authors.lastname: Aperis
authors.affiliation: Nephrology, General Hospital of Rhodes, Rhodes, Greece.
authors.forename: Foteini
authors.initials: F
authors.lastname: Lamprianou
authors.affiliation: Nephrology, General Hospital of Rhodes, Rhodes, Greece.
authors.forename: Giorgos
authors.initials: G
authors.lastname: Ntetskas
authors.affiliation: Nephrology, General Hospital of Rhodes, Rhodes, Greece.
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Roufas
authors.affiliation: Nephrology, General Hospital of Rhodes, Rhodes, Greece.
authors.forename: Polichronis
authors.initials: P
authors.lastname: Alivanis
mesh_terms: D000328:Adult; D018450:Disease Progression; D004305:Dose-Response Relationship, Drug; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics; D056726:Genetic Association Studies; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology / Q000473:pathology; D007527:Isoenzymes / Q000008:administration & dosage / Q000627:therapeutic use; D008297:Male; D020125:Mutation, Missense; D009929:Organ Size / Q000187:drug effects; D011507:Proteinuria / Q000188:drug therapy* / Q000209:etiology; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D012008:Recurrence; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000235:genetics* / Q000627:therapeutic use
chemical_list: D007527:Isoenzymes; D011994:Recombinant Proteins; C000627036:agalsidase alfa; D000519:alpha-Galactosidase
keywords: Enfermedad de Fabry; Enzyme replacement therapy; Fabry disease; Mutación pN215S; Mutation pN215S; Proteinuria; Terapia sustitutiva enzimática