Ultrastructural deposits appearing as “zebra bodies” in renal biopsy: Fabry disease?– comparative case reports

BMC Nephrology

Case Report

Marisa França Ferreira¹  Juliana Reis Machado²  Fabiano Bichuette Custódio²  Marlene Antônia dos Reis²  Precil Diego Miranda de Menezes Neves²  Maria Luíza Gonçalves dos Reis Monteiro²  Shigueo Iwamoto³  Marlene Freire⁴ 

[1] Nephrology Service, Felício Rocho Hospital, Rua Uberaba, 500, CEP: 30180-080, Belo Horizonte, MG, Brazil;Nephropathology Service, Federal University of Triângulo Mineiro, Praça Manoel Terra, 330, CEP: 38015-050, Uberaba, MG, Brazil;Renal Therapy Unit, Federal University of Triângulo Mineiro, Praça Manoel Terra, 330, CEP: 38015-050, Uberaba, MG, Brazil;Rheumatology Service, Federal University of Triângulo Mineiro, Praça Manoel Terra, 330, CEP: 38015-050, Uberaba, MG, Brazil;

关键词: Fabry Disease;    Hydroxychloroquine;    Lysosomal Storage Disorder;    Renal Biopsy;    Systemic Lupus Erythematosus;   

DOI  :  10.1186/s12882-017-0571-0

 received in 2015-08-11, accepted in 2017-05-03,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundFabry 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 presentationCase 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.ConclusionClinical 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.

【 授权许可】

CC BY   
© The Author(s). 2017