Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports

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. Case 1: A 28-year-old female patient...

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Bibliographic Details
Published in:	BMC nephrology Vol. 18; no. 1; p. 157
Main 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
Format:	Journal Article
Language:	English
Published:	England BioMed Central 12-05-2017 BMC
Subjects:	a-Galactosidase Adult Biopsy Biopsy - methods Case Report Case reports Cornea Cytoplasm Deposits Diagnosis, Differential Differential diagnosis Disease Electron microscopy Enzymes Fabry Disease Fabry Disease - pathology Fabry's disease Family medical history Female Females Genetic analysis Genetic disorders Humans Hydroxychloroquine Kidney - pathology Kidney - ultrastructure Kidney Diseases - pathology Kidneys Laboratories Leukocytes Lipidoses - pathology Lipids Lupus Lysosomal Storage Disorder Male Males Nephrology Patients Phospholipids Proteinuria Renal Biopsy Systemic Lupus Erythematosus Urine Fabry Disease Systemic Lupus Erythematosus Renal Biopsy Lysosomal Storage Disorder Hydroxychloroquine
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Summary:	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. 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. 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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1471-2369 1471-2369
DOI:	10.1186/s12882-017-0571-0