Abstract: SA-PO218
LCAT Deficiency with C3 Glomerulopathy: Case Report
Session Information
- Trainee Case Reports - V
October 27, 2018 | Location: Exhibit Hall, San Diego Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Trainee Case Reports
- 1202 Glomerular Diseases: Immunology and Inflammation
Authors
- Sales, Gerard F., Hospital das Clínicas University of São Paulo (USP), SÃO PAULO, Brazil
- Vasconcellos, Jordan Dourado, Faculdade de Medicida da Universidade de Sao Paulo, São Paulo, Brazil
- Segura, Gabriela C., Hospital das Clínicas University of São Paulo (USP), SÃO PAULO, Brazil
- Ferreira, Tomas D M, Universidade de São Paulo, São Paulo, Brazil
- Jorge, Lectícia, University of São Paulo, São Paulo, Brazil
- Woronik, Viktoria, University of São Paulo, São Paulo, Brazil
Introduction
Lecithin cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of lipoprotein metabolism that produces deposit of unesterified cholesterol in the cornea, kidneys, and erythrocytes. Kidney biopsy typically shows vacuolation of glomerular capillary walls, foam cells and spiculation as well as duplication of the glomerular basal membrane (GBM). The immunofluorescense (IF) studies are typically negative although C3 non specific depositions are described. Here we present a case of LCAT deficiency that showed some C3 glomerulopathy aspects.
Case Description
We report a case of a 19-year-old woman with a brother diagnosed with LCAT deficiency who presented with low limb edema, foamy urine and corneal fish-eye-like alterations. Laboratory tests showed extremely low HDL levels (3 mg/dl), normal renal function (CKD-EPI 137 ml/min/1,73m2), subnefrotic proteinuria (1,8 gr/24 hours), anemia (hemoglobin 10,0g/dl) and normal complement (C3 108 mg/dL; C4 27,4 mg/dL). Kidney biopsy evidenced podocyte and mesangium vacuolation, double-contour basal membrane and subendothelial as well as intramembranous hyaline deposits. On IF we found only C3 granular depositions with medium intensity (2+) on the glomerular capillary wall and tubular basal membrane with diffuse distribution.
Discussion
In literature, we found two cases reported of LCAT deficiency associated with dense deposit disease (DDD). Our patient had mixed lesions of LCAT deficiency and medium (2+) intensity C3 deposition pointing more to a C3 glomerulopathy than to a non specific deposition. Electronic microscopy in process should define the diagnosis. It has been affirmed that structural changes in renal GBM could occur due to alterations in galactosyl fraction provoked by extraneous material deposition. Therefore, we can speculate that deposition of abnormal non esterified cholesterol in LCAT deficiency could be related to activation of complement cascade.