title: Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria.
abstract: BACKGROUND
  Lecithin cholesterol acyltransferase (LCAT) is an important enzyme in cholesterol metabolism that is involved in the esterification of cholesterol. A lack of this enzyme results in deranged metabolic pathways that are not completely understood, resulting in abnormal deposition of lipids in several organs. Clinically, it manifests with proteinuria, dyslipidemia and corneal opacity with progressive chronic kidney disease resulting in end-stage renal disease.
  
  
  METHODS
  We herein present a case of a 30-year-old male with proteinuria that was not responsive to empiric management with angiotensin-converting enzyme (ACE) inhibitors and oral steroids. Physical examination revealed corneal ring opacity involving both eyes. Urinalysis revealed an active sediment. The 24-h proteinuria was 3.55 grams. Family history was positive for renal disease and dyslipidemia. Viral serology for human immunodeficiency virus (HIV), hepatitis C virus (HCV) and hepatitis B virus (HBV) were negative. Serum complements were normal and anti-nuclear antibody (ANA) was negative. We elected for a renal biopsy that revealed characteristic features of LCAT deficiency. The diagnosis of LCAT deficiency was established with a combination of clinical and pathological findings.
  
  
  CONCLUSIONS
  Currently renal prognosis is poor but conservative management with ACE inhibitors and lipid lowering therapy in addition to steroids has been shown to retard progression to end-stage renal disease. However newer therapies such as gene replacement and recombinant LCAT replacement are being studied with promising preliminary results.
authors: Department of Medicine, Section of Nephrology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
authors: Mohammed Mahdi
authors: MM
authors: Althaf
authors: Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
authors: Hadeel
authors: H
authors: Almana
authors: Department of Medicine, Dallah Hospital, Riyadh, Kingdom of Saudi Arabia.
authors: Ahmed
authors: A
authors: Abdelfadiel
authors: Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
authors: Sadiq Mohammed
authors: SM
authors: Amer
authors: Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.
authors: Turki Omar
authors: TO
authors: Al-Hussain
keywords: Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; HDL-cholesterol; Proteinuria