Journal of clinical lipidology · 2011
Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка правительства СШАОбзорНазвание и аннотация: Перевод пока не подготовлен
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Roshan Bijan, Ganda Om P, Desilva Ranil, Ganim Rose B, Ward Edmund, Haessler Sarah D, Polisecki Eliana Y, Asztalos Bela F, Schaefer Ernst J
Аннотация
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.
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.
Предметные рубрики MeSH
Amino Acid SequenceApolipoprotein A-ICholesterolCorneal OpacityElectrophoresis, Gel, Two-DimensionalHomozygoteHumansImmunoblottingLecithin Cholesterol Acyltransferase DeficiencyLipoproteins, HDLMaleMiddle AgedMutation, MissensePhosphatidylcholine-Sterol O-AcyltransferaseProteinuriaSequence Analysis, DNA