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- Title
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
- Authors
de Menezes Neves, Precil Diego Miranda; Machado, Juliana Reis; Custódio, Fabiano Bichuette; dos Reis Monteiro, Maria Luíza Gonçalves; Iwamoto, Shigueo; Freire, Marlene; Ferreira, Marisa França; dos Reis, Marlene Antônia
- Abstract
<bold>Background: </bold>Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis.<bold>Case Presentation: </bold>Case 1: A 28-year-old female patient with systemic lupus erythematosus who had been using hydroxychloroquine for 14 months presented subnephrotic proteinuria. Renal biopsy showed deposits compatible with FD. Neither activity analysis of alpha-galactosidase A nor genetic analysis were available and were not performed. These deposits were not detected in a subsequent renal biopsy three years after withdrawal of the medication, characterizing a possible hydroxychloroquine-induced renal phospholipidosis. Case 2: A 29-year-old male patient presented with acroparesthesia, angiokeratomas, cornea verticillata and subnephrotic proteinuria. Deposits compatible with FD were detected upon renal biopsy. The evaluation of alpha-galactosidase A showed no activity in both blood and leukocytes. Genetic analysis identified an M284 T mutation in exon 6, and such mutation was also found in other family members.<bold>Conclusion: </bold>Clinical investigation is necessary in suspected cases of Fabry Disease upon renal biopsy in order to confirm diagnosis. Drug-induced renal phospholipidosis should be considered in differential diagnosis in cases with intracellular osmiophilic, lamellar inclusions in electron microscopy.
- Subjects
RENAL biopsy; ANGIOKERATOMA corporis diffusum; LYSOSOMAL storage diseases
- Publication
BMC Nephrology, 2017, Vol 18, p1
- ISSN
1471-2369
- Publication type
journal article
- DOI
10.1186/s12882-017-0571-0