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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 BMC+Nephrol
2017 ; 18
(1
): 157
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry
disease?- comparative case reports
#MMPMID28499424
de Menezes Neves PDM
; Machado JR
; Custódio FB
; Dos Reis Monteiro MLG
; Iwamoto S
; Freire M
; Ferreira MF
; Dos Reis MA
BMC Nephrol
2017[May]; 18
(1
): 157
PMID28499424
show ga
BACKGROUND: 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 PRESENTATION:
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. CONCLUSION: 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.