title: Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease.
abstract: Inherited and acquired metabolic disorders are responsible for renal intracellular accumulation of phospholipids. Ultrastructural analysis revealing typical myeloid or zebra bodies was previously thought to be exclusive to Fabry disease. However, chloroquine/hydroxychloroquine toxicity can cause similar abnormalities. Recent studies have mentioned curvilinear bodies (CLB) in renal cells in such cases, never described in Fabry nephropathy. We report a 31-year-old patient with systemic lupus erythematosus who was on long-term hydroxychloroquine treatment. The presence of zebra bodies on electron microscopy lead to initial interpretation of Fabry disease, but subsequent genetic analysis did not show a relevant mutation. Further evaluation revealed CLB in renal cells, supporting the diagnosis of hydroxycholoroquine-induced renal phospholipidosis.
authors.affiliation: Nephrology Department , Centro Hospitalar de Trás-os-Montes e Alto Douro , Vila Real , Portugal.
authors.forename: Rui M
authors.initials: RM
authors.lastname: Costa
authors.affiliation: Pathology Department , Hospital Universitário Juan Canalejo , Coruña , Spain.
authors.forename: Eduardo V
authors.initials: EV
authors.lastname: Martul
authors.affiliation: Pathology Department , Hospital Universitário Juan Canalejo , Coruña , Spain.
authors.forename: Juan M
authors.initials: JM
authors.lastname: Reboredo
authors.affiliation: Nephrology Department , Hospital da Costa Burela , Lugo , Spain.
authors.forename: Secundino
authors.initials: S
authors.lastname: Cigarrán
keywords: Fabry disease; curvilinear body; hydroxychroloquine; toxicity; zebra body