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10.1186/s12882-017-0571-0

http://scihub22266oqcxt.onion/10.1186/s12882-017-0571-0
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suck abstract from ncbi


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pmid28499424
      BMC+Nephrol 2017 ; 18 (1 ): 157
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  • 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.
  • |Adult [MESH]
  • |Biopsy/*methods [MESH]
  • |Diagnosis, Differential [MESH]
  • |Fabry Disease/*pathology [MESH]
  • |Female [MESH]
  • |Humans [MESH]
  • |Kidney Diseases/*pathology [MESH]
  • |Kidney/*pathology/ultrastructure [MESH]
  • |Lipidoses/*pathology [MESH]


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