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A rare case of nephrotic syndrome and Tangier disease

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Abstract

Rarely, disorders of lipid metabolism cause nephrotic syndrome with progressive kidney disease. Tangier disease is a rare condition belonging to this family of lipid disorders; however, it is not associated with kidney disease. We report a patient presenting with nephrotic syndrome, leading to the unmasking of Tangier disease. A 34-year-old man presented with ankle oedema, nephrotic-range proteinuria and hypoalbuminaemia. Kidney biopsy demonstrated membranous nephropathy with features of immunoperoxidase staining, suggesting a secondary aetiology. Acute serology was negative. Imaging showed lymphadenopathy with splenomegaly suggestive of lymphoproliferative disorder. Bone marrow biopsy revealed foamy macrophages with widespread lipid deposition. Genomic sequencing revealed a pathological homozygous variant for ATP-binding cassette subfamily A member 1 (ABCA1) c.1510-1G > A, consistent with Tangier disease. Review of the ultrastructural kidney biopsy features demonstrated, in addition to membranous subepithelial and intramembranous usual-type electron-dense deposits, intramembranous osmiophilic lipid deposits similar to those in LCAT deficiency. The patient’s renal function gradually declined (serum creatinine 133 µmol/L); therefore, he was started on rituximab. Metabolic disorders causing nephrotic syndrome are rare and even more so their association with membranous nephropathy. These should be considered in cases with unexplained persistent nephrotic syndrome with progressive kidney disease and lipid deposits on renal biopsy.

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The data generated from this case report are available from the corresponding author on reasonable request.

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Authors and Affiliations

  1. King’s College Hospital NHS Foundation Trust, Denmark Hill, London, SE5 9RS, UK

    Rouvick Gama, Jon Salisbury, Shireen Kassam & Robert Elias

  2. National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    Elaine Murphy

  3. Imperial College Healthcare NHS Foundation Trust, Du Cane Road, London, W12 0HS, UK

    Naomi Simmonds & Candice Roufosse

Authors
  1. Rouvick Gama
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  2. Elaine Murphy
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  3. Jon Salisbury
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  4. Shireen Kassam
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  6. Candice Roufosse
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  7. Robert Elias
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Correspondence to Rouvick Gama.

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Gama, R., Murphy, E., Salisbury, J. et al. A rare case of nephrotic syndrome and Tangier disease. CEN Case Rep 12, 265–269 (2023). https://doi.org/10.1007/s13730-022-00761-8

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  • DOI: https://doi.org/10.1007/s13730-022-00761-8

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