Logo-jnp
J Nephropathol. 2015;4(1): 25-28.
doi: 10.12860/jnp.2015.05
PMID: 25657982
PMCID: PMC4316582
Scopus ID: 84925115707
  Abstract View: 3477
  PDF Download: 1520

Case Report

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria

Mohammed Mahdi Althaf 1*, Hadeel Almana 2, Ahmed Abdelfadiel 3, Sadiq Mohammed Amer 2, Turki Omar Al-Hussain 2

1 Department of Medicine, Section of Nephrology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
2 Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
3 Department of Medicine, Dallah Hospital, Riyadh, Kingdom of Saudi Arabia
*Corresponding Author: Corresponding author: Mohammed Mahdi Althaf MD, MRCP(UK), Department of Medicine, Section of Nephrology, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia., Email: moalthaf@kfshrc.edu.sa

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.

Case Presentation: 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.


Implication for health policy/practice/research/medical education:

Familial lecithin cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive inherited disease that presents with corneal opacity, dyslipidemia and proteinuria with a poor renal prognosis where end-stage renal disease is common around the fourth decade of life. We present a case with classical presentation where diagnosis is confirmed by renal biopsy. Classical histological images are provided in this case report.

Please cite this paper as: Althaf MM, Almana H, Abdelfadiel A, Amer SM, Al-Hussain TO. Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria. J Nephropathol. 2015; 4(1):25-28. DOI: 10.12860/jnp.2015.05

First Name
 
Last Name
 
Email Address
 
Comments
 
Security code


Abstract View: 3478

Your browser does not support the canvas element.


PDF Download: 1520

Your browser does not support the canvas element.

ePublished: 01 Jan 2015
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - Firefox Plugin)