BMJ Case Reports 2018; doi:10.1136/bcr-2017-224129
  • Images in…

LCAT deficiency as a cause of proteinuria and corneal opacification

  1. Montserrat Morales4
  1. 1Department of Nephrology, Hospital Universitario 12 de Octubre, Madrid, Spain
  2. 2Department of Pathology, Hospital Universitario 12 de Octubre, Madrid, Spain
  3. 3Department of Ophthalmology, Hospital Universitario 12 de Octubre, Madrid, Spain
  4. 4Department of Internal Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain
  1. Correspondence to Dr Enrique Morales, emoralesr{at}
  • Accepted 22 February 2018
  • Published 13 March 2018


A 44-year-old woman was diagnosed with corneal dystrophy (figure 1) and anaemia. Analytically, she showed an altered lipid profile (cholesterol 172 mg/dL, triglycerides 173 mg/dL, high-density lipoprotein (HDL) cholesterol 6.6 mg/dL, low-density lipoprotein cholesterol 131 mg/dL, very low-density lipoprotein (VLDL) cholesterol 45 mg/dL, VLDL triglycerides 143 mg/dL, apo A 62 mg/dL, apo B 69.6 mg/dL, lipoprotein A <2.5 mg/dL) and proteinuria between 1 and 2 g/day. A renal biopsy was performed. Histology revealed the presence of segmental hyaline lesions and irregular mesangial enlargement. Glomerular capillary walls showed parietal thickening and subendothelial deposits, vacuolisation and frequent images of reduplication of the basement membrane (figure 2). Electron microscopy showed lipid deposition …

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