Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature

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• 作者：Bijan  ; Roshan MD^a ; Om P.  ; Ganda MD^a ; Ranil  ; DeSilva MD^b ; Rose B.  ; Ganim MD^c ; Edmund  ; Ward JD^d ; Sarah D.  ; Haessler MD^c ; Eliana Y.  ; Polisecki PhD^d ; Bela F.  ; Asztalos PhD^d ;   ; ^e ; Ernst J.  ; Schaefer MD^d ;   ; ^e ;   ; ^{ernst.schaefer@tufts.edu}
• 关键词：Apolipoprotein ; High density lipoprotein ; Lecithin ; cholesterol acyltransferase ; Corneal opacification ; Anemia ; Renal disease
• 刊名：Journal of Clinical Lipidology
• 出版年：2011
• 出版时间：November-December 2011
• 年：2011
• 卷：5
• 期：6
• 页码：493-499
• 全文大小：429 K

文摘

Background

A case of homozygous familial lecithin:cholesterol acyltransferase (LCAT) deficiency with a novel homozygous LCAT missense mutation (replacement of methionine by arginine at position 293 in the amino acid sequence of the LCAT protein) is reported.

Methods and Results

The probable diagnosis was suggested by findings of marked high density lipoprotein (HDL) deficiency, corneal opacification, anemia, and renal insufficiency. The diagnosis was confirmed by two dimensional gel electrophoresis of HDL, the measurement of free and esterified cholesterol, and sequencing of the LCAT gene.

Conclusions

In our view the most important aspects of therapy to prevent the kidney disease that these patients develop is careful control of blood pressure and lifestyle measures to optimize non HDL lipoproteins. In the future replacement therapy by gene transfer or other methods may become available.