LCAT deficiency as a cause of proteinuria and corneal opacification

Description

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 in many areas (figure 3). The evaluation of the plasma lecithin cholesterol acyltransferase (LCAT) enzymatic activity was 15.2 nmol/mL/hour (reference range, 81±12 mL/min/hour). A genetic study of LCAT deficiency disease was performed which showed a missense homozygosis in the LCAT gene c368G>Cp (R123p), not previously described in literature.

...

http://ift.tt/2p6uSSU