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

BMC Nephrology

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

[1] Nephrology Service, Felício Rocho Hospital;Nephropathology Service, Federal University of Triângulo Mineiro;Renal Therapy Unit, Federal University of Triângulo Mineiro;Rheumatology Service, Federal University of Triângulo Mineiro;

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

DOI  :  10.1186/s12882-017-0571-0

来源: DOAJ

【 摘 要 】

Abstract 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.

【 授权许可】

Unknown