Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations

Adalberto Sessa, Graziana Battini, Mietta Meroni, Giuseppe Daidone, Ida Carnera, Pier Luigi Brambilla, Giovanni Viganò, Ferdinando Giordano, Francesco Pallotti, Laura Torri Tarelli, Laura Calabresi, Marina Rolleri, Stefano Bertolini

Research output: Contribution to journalArticle

Abstract

Patients with familial lecithin-cholesterol acyltransferase (LCAT) deficiency very often show progressive glomerulosclerosis with evolution to end-stage disease. High levels of an abnormal lipoprotein (lipoprotein X) cause glomerular capillary endothelial damage. The ultrastructural study of renal biopsy specimens shows characteristic glomerular deposits of membrane-like, cross-striated structures and vacuole structures. The gene encoding for LCAT has been mapped to chromosome 16q22.1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction. Herein we report clinical features and renal histological findings concerning a 24-year-old male patient with classical familial LCAT deficiency due to two different allelic mutations: a nonsense mutation inherited from the father and a missense mutation inherited from the mother. Moreover, the patient showed glomerular histological lesions and an immunofluorescent glomerular pattern typical of hypocomplementemic membranoproliferative type II glomerulonephritis (dense-deposit disease). The nature of electron-dense material that characterizes dense-deposit disease is still unknown, but there are suggestions that some chemical modifications might occur in the renal basement membranes. Therefore, this clinical case might induce to consider possible relations between disorders of the lipoprotein metabolism and renal dense-deposit disease.

Original languageEnglish
Pages (from-to)268-272
Number of pages5
JournalNephron
Volume88
Issue number3
DOIs
Publication statusPublished - 2001

Keywords

  • Chronic renal failure
  • Dense-deposit disease
  • Genetic diseases
  • Hereditary nephropathies
  • Lecithin-cholesterol acyltransferase deficiency
  • Membranoproliferative glomerulonephritis

ASJC Scopus subject areas

  • Nephrology

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    Sessa, A., Battini, G., Meroni, M., Daidone, G., Carnera, I., Brambilla, P. L., Viganò, G., Giordano, F., Pallotti, F., Torri Tarelli, L., Calabresi, L., Rolleri, M., & Bertolini, S. (2001). Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations. Nephron, 88(3), 268-272. https://doi.org/10.1159/000046001