DOI 10.5414/CN106484

Clinical Nephrology, Volume 76 - October (323 - 328)

Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review

K. Shoji1, H. Morita1, 5, Y. Ishigaki2, C.J. Rivard3, M. Takayasu1, K. Nakayama1, T. Nakayama1, Y. Inoue1, M. Ayaki4, A. Yoshimura
1 Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Yokohama, 2 Division of Molecular Metabolism, Diabetes, Department of Internal Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan, 3 Division of Renal Diseases, Hypertension, University of Colorado Denver, Aurora, Colorado, USA, 4 Department of Ophthalmology Showa University Fujigaoka Hospital, Yokohama, 5 Division of Nephrology, Rheumatology, Department of Internal Medicine, Aichi Medical University, School of Medicine, Nagakute, Japan

Abstract

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disease characterized by corneal opacities, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure. In all FLD cases, a mutation has been found in the coding sequence of the LCAT gene. FLD is clinically distinguished from an acquired form of LCAT deficiency by the presence of corneal opacities. Here we describe a 36-year-old woman presenting with clinical, pathological, and laboratory data compatible with FLD. Her mother and elder sister had corneal opacities. However, genetic analysis revealed there were no mutations in the LCAT coding sequences and no alterations in LCAT mRNA expression. Furthermore, we were unable to find any underlying conditions that may lead to LCAT deficiency. The present case therefore demonstrates that LCAT deficiency may be caused by factors other than mutations in the coding sequence and we suggest that a translational or posttranslational mechanism may be involved.

Author Details

Authors

  • K. Shoji1
  • H. Morita1
  • 5
  • Y. Ishigaki2
  • C.J. Rivard3
  • M. Takayasu1
  • K. Nakayama1
  • T. Nakayama1
  • Y. Inoue1
  • M. Ayaki4
  • A. Yoshimura

Departments

  • 1 Division of Nephrology, Department of Medicine, Showa University Fujigaoka Hospital, Yokohama,
  • 2 Division of Molecular Metabolism, Diabetes, Department of Internal Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan,
  • 3 Division of Renal Diseases, Hypertension, University of Colorado Denver, Aurora, Colorado, USA,
  • 4 Department of Ophthalmology Showa University Fujigaoka Hospital, Yokohama,
  • 5 Division of Nephrology, Rheumatology, Department of Internal Medicine, Aichi Medical University, School of Medicine, Nagakute, Japan

Full Text

Add to Cart

Rights / Permissions

This section will be available soon


Shopping Overview
Type Qtty Price
Your basket is empty
View Cart