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

BMC Nephrology
Precil Diego Miranda de Menezes NevesMarlene Antônia Dos Reis

Abstract

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 re...Continue Reading

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Citations

Apr 25, 2018·Transplantation·Sara ErsözlüAlbina Nowak
Apr 1, 2020·Jornal brasileiro de nefrologia : ʹorgão oficial de Sociedades Brasileira e Latino-Americana de Nefrologia·Mariana Faucz Munhoz da CunhaFellype Carvalho Barreto
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Oct 17, 2021·Experimental & Molecular Medicine·Jin Won KimYong Kyun Kim

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Methods Mentioned

BETA
biopsy
light microscopy
electron
electrophoresis
electron microscopy
biopsies

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