ArticleBMC nephrology2017
Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports.
Article in BMC nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- The toxic effects of chloroquine and hydroxychloroquine on skeletal muscle: a systematic review and meta-analysis.Scientific reports · 2021Pooled it
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Generation of the functionally enhanced proximal tubular cells from human iPSC-derived kidney organoids.Experimental & molecular medicine · 2026Article
- Fabry Disease: An Updated Perspective and Review of Treatment and Therapies.Advances in therapy · 2026Review
- Drug-induced phospholipidosis of the kidney suspected to be caused by atomoxetine.Journal of pathology and translational medicine · 2026Article
- Does administration of hydroxychloroquine/amiodarone affect the efficacy of enzyme replacement therapy for Fabry mice?Molecular genetics and metabolism reports · 2024Article
- Double Hit of Hydroxichloroquine and Amiodarone Induced Renal Phospholipidosis in a Patient with Monoclonal Gammopathy and Sclerodermiform Syndrome: A Case Report and Review of the Literature.Medical sciences (Basel, Switzerland) · 2024Review
- Human pluripotent stem cell-derived kidney organoids: Current progress and challenges.World journal of stem cells · 2024Review
- Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.Pediatric rheumatology online journal · 2024Review
- Kidney Podocyte Zebra Bodies after Lung Transplantation for Lymphangioleiomyomatosis.Internal medicine (Tokyo, Japan) · 2023Review
- Endomyocardial biopsy-proven hydroxychloroquine-induced cardiomyopathy in a patient with rheumatoid arthritis.BMJ case reports · 2023Article
- The evolution of the initial manifestations and renal involvement of chinese patients with classical and late-onset Fabry disease at different sexes and ages.BMC nephrology · 2023Article
- Intact mitochondrial substrate efflux is essential for prevention of tubular injury in a sex-dependent manner.JCI insight · 2022Article
- Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease, a Case Report.Canadian journal of kidney health and disease · 2022Article
- LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease.Journal of mass spectrometry and advances in the clinical lab · 2021Article
- Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?Molecular genetics and metabolism reports · 2021Article
- Systemic toxicity of chloroquine and hydroxychloroquine: prevalence, mechanisms, risk factors, prognostic and screening possibilities.Rheumatology international · 2021Review
- Review
- Renal Manifestations of Fabry Disease: A Narrative Review.Canadian journal of kidney health and disease · 2021Review
- Rare inherited kidney diseases: an evolving field in Nephrology.Jornal brasileiro de nefrologia · 2020Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 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.
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.
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