title: Amelioration of circulating lipoprotein profile and proteinuria in a patient with LCAT deficiency due to a novel mutation (Cys74Tyr) in the lid region of LCAT under a fat-restricted diet and ARB treatment.
abstract: Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a hereditary disease characterized by an abnormal lipid profile, corneal opacity, anemia and progressive renal disease. We report a patient with complete loss of LCAT activity due to a novel lcat gene mutation of Cys74Tyr in the lid region of LCAT protein. Esterification of cholesterol in this patient was disturbed by disruption of a substrate binding loop of Cys50-Cys74 in LCAT protein. She had progressive renal dysfunction, proteinuria, corneal opacity, anemia and an abnormal lipid profile. Her serum lipids showed a significant increase in abnormal lipoproteins at the original position in agarose gel electrophoresis and VLDL-cholesterol, and a severe decrease in serum HDL-cholesterol. Lipoprotein analyzes also revealed the presence of an abnormal midband lipoprotein, and a maturation disturbance of HDL particles. Renal function and proteinuria improved following the adoption of a fat-restricted diet and administration of an angiotensin II receptor blocker. The abnormal lipoproteins also decreased after this treatment.
authors.affiliation: Department of Nephrology in Internal Medicine, Kitasato University Hospital and Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0375, Japan. s-naito@med.kitasato-u.ac.jp
authors.forename: Shokichi
authors.initials: S
authors.lastname: Naito
authors.forename: Mariko
authors.initials: M
authors.lastname: Kamata
authors.forename: Masako
authors.initials: M
authors.lastname: Furuya
authors.forename: Miyuki
authors.initials: M
authors.lastname: Hayashi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kuroda
authors.forename: Hideaki
authors.initials: H
authors.lastname: Bujo
authors.forename: Kouju
authors.initials: K
authors.lastname: Kamata
mesh_terms: D047228:Angiotensin II Type 1 Receptor Blockers / Q000627:therapeutic use*; D002784:Cholesterol / Q000097:blood; D003318:Corneal Opacity / Q000235:genetics / Q000378:metabolism; D018752:Diet, Fat-Restricted; D004220:Disulfides / Q000378:metabolism; D004951:Esterification; D005260:Female; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics; D008074:Lipoproteins / Q000097:blood; D008875:Middle Aged; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011507:Proteinuria / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics
chemical_list: D047228:Angiotensin II Type 1 Receptor Blockers; D004220:Disulfides; D008074:Lipoproteins; D002784:Cholesterol; D007862:Phosphatidylcholine-Sterol O-Acyltransferase