Published online Dec 26, 2019. doi: 10.12998/wjcc.v7.i24.4377
Peer-review started: September 4, 2019
First decision: September 23, 2019
Revised: November 8, 2019
Accepted: November 23, 2019
Article in press: November 23, 2019
Published online: December 26, 2019
Processing time: 111 Days and 20.2 Hours
Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (GLA). A mutation in the GLA gene leads to a loss of activity of alpha-galactosidase A. Some drugs, such as hydroxychloroquine, can cause pathological changes similar to those usually seen in Fabry disease.
We report the case of a 41-year-old female patient who was diagnosed with undifferentiated connective tissue disease in 2008. Hydroxychloroquine treatment started 2 years ago, and proteinuria and hematuria increased. Renal biopsy demonstrated renal phospholipidosis. Zebra bodies and myelin figures were found by renal electron microscopy and were initially thought to be indicators of Fabry disease. A genetic analysis of the patient and her family members did not reveal mutations in the GLA gene, supporting a diagnosis of hydroxychloroquine-induced renal phospholipidosis.
This report reveals one of the adverse effects of hydroxychloroquine. We should pay more attention to hydroxychloroquine-induced renal phospholipidosis.
Core tip: Hydroxychloroquine-induced renal phospholipidosis is characterised by zebra bodies and myelin figures, mimicking nephropathy of Fabry disease. It reminds that clinical application of hydroxychloroquine should be careful. Moreover, drug-induced renal phospholipidosis should be considered as a differential diagnosis, especially when zebra bodies and myelin figures are found in the kidney.