Hydroxychloroquine-induced podocytopathy mimicking Fabry disease

• Published in: BMJ case reports Vol. 12; no. 5; p. e228876
• Main Authors: Serre, Justine, Buob, David, Boffa, Jean-Jacques
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 13.05.2019; BMJ Publishing Group
• Series: Case Report
• Subjects: Adult; Antirheumatic Agents - adverse effects; Biopsy; Case reports; Diagnosis, Differential; Enzymes; Fabry Disease - diagnosis; Female; Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect; Humans; Hydroxychloroquine - adverse effects; Immunomodulators; Kidneys; Lupus; Lupus Nephritis - chemically induced; Lupus Nephritis - pathology; Male; Medical prognosis; Microscopy; Nephrotic Syndrome - chemically induced; Nephrotic Syndrome - pathology; Patients; Rheumatoid arthritis; unwanted effects/adverse reactions; proteinurea; pathology; renal system
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr-2018-228876

Hydroxychloroquine (HCQ) is largely prescribed as an immunomodulator to prevent systemic diseases flares in patients with systemic lupus erythematous, rheumatoid arthritis, Sjogren’s disease. Among reported side effects, HCQ can accumulate in lysosomes and induced phospholipidosis. Here, we report an HCQ-induced podocytopathy mimicking Fabry disease (FD). They share the same histological lesions: cytoplasmic vacuolisation of the podocytes and zebra bodies on light and electronic microscopy. FD has been ruled out by measuring enzymatic activity and genetic test. The persistence of proteinuria after immunological remission of a systemic disease treated with HCQ could suggest this HCQ-induced podocytopathy.