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.
Atherosclerosis
; 228(1): 193-7, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23522979
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteinuria
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Dieta con Restricción de Grasas
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Bloqueadores del Receptor Tipo 1 de Angiotensina II
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Fosfatidilcolina-Esterol O-Aciltransferasa
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Deficiencia de la Lecitina Colesterol Aciltransferasa
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Atherosclerosis
Año:
2013
Tipo del documento:
Article
País de afiliación:
Japón