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Diagnosis: Proliferative Difuse Lupus Nephritis with Hydroxychloroquine Inlusions in Podocytes
Various drugs including amiodarone, chloroquine and hydroxychloroquine may mimic phospholipidosis of Fabry disease. In previous years, case reports have been published that have drawn attention to chloroquine, causing histomorphologic changes similar to those of Fabry nephropathy. In all cases, the almost identical inclusions led to misdiagnosis until a complete history was available, followed by confirmation of normal enzymatic activity or absence of α-galactosidase A gene mutation. These drugs have been shown to become sequestered in tissues (liver, spleen, lungs and kidneys). This extensive distribution has been attributed to its amphiphilic nature, which allows for lysosomal trapping and inhibition of key lysosomal enzymes, including α-galactosidase (Costa RM, et al. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease. Clin Kidney J. 2013;6:533-6 [PubMed link]).
Accordingly, renal phospholipidosis, similar to that observed in Fabry nephropathy, has been associated with chloroquine and hydroxychloroquine toxicity. In these cases, ultrastructural analysis has variously shown small dense cytoplasmic bodies, larger concentrically lamellated myeloid bodies and straight parallel-arranged lamellated zebra bodies, resembling Fabry disease. Even the distribution within renal cells is similar, with a dominant involvement of podocytes and endothelial cells and, to a lesser extent, smooth muscle cells of the vessel walls. Therefore, in such cases, exclusion of Fabry disease is only possible by demonstrating normal α-galactosidase activity and/or absence of genetic mutations. In a previous paper, one year after stopping chloroquine, total remission of myeloid inclusion bodies in the kidney biopsy was seen in one patient and partial resolution in two patients (Costa RM, et al. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease. Clin Kidney J. 2013;6:533-6 [PubMed link]).
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References
- de Menezes Neves PDM, Machado JR, Custódio FB, Dos Reis Monteiro MLG, Iwamoto S, Freire M, Ferreira MF, Dos Reis MA. Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports. BMC Nephrol. 2017;18(1):157. [PubMed link]
- Di Girolamo F, Claver E, Olivé M, Salazar-Mendiguchía J, Manito N, Cequier Á. Dilated Cardiomyopathy and Hydroxychloroquine-induced Phospholipidosis: From Curvilinear Bodies to Clinical Suspicion. Rev Esp Cardiol (Engl Ed). 2017 May 18. pii: S1885-5857(17)30221-9. [PubMed link]
- Costa RM, Martul EV, Reboredo JM, Cigarrán S. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease. Clin Kidney J. 2013;6(5):533-6 [PubMed link].