RESUMO
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.
Assuntos
Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Dieta com Restrição de Gorduras , Deficiência da Lecitina Colesterol Aciltransferase , Fosfatidilcolina-Esterol O-Aciltransferase/genética , Proteinúria , Colesterol/sangue , Opacidade da Córnea/genética , Opacidade da Córnea/metabolismo , Dissulfetos/metabolismo , Esterificação , Feminino , Humanos , Deficiência da Lecitina Colesterol Aciltransferase/dietoterapia , Deficiência da Lecitina Colesterol Aciltransferase/tratamento farmacológico , Deficiência da Lecitina Colesterol Aciltransferase/genética , Lipoproteínas/sangue , Pessoa de Meia-Idade , Fosfatidilcolina-Esterol O-Aciltransferase/metabolismo , Mutação Puntual , Proteinúria/dietoterapia , Proteinúria/tratamento farmacológico , Proteinúria/genéticaAssuntos
Glomerulonefrite/tratamento farmacológico , Doença Mista do Tecido Conjuntivo/tratamento farmacológico , Adulto , Anticorpos Anticitoplasma de Neutrófilos/sangue , Anticorpos Anticitoplasma de Neutrófilos/imunologia , Feminino , Membrana Basal Glomerular/ultraestrutura , Glomerulonefrite/complicações , Glomerulonefrite/imunologia , Glomerulonefrite/patologia , Humanos , Metilprednisolona/administração & dosagem , Metilprednisolona/uso terapêutico , Doença Mista do Tecido Conjuntivo/complicações , Doença Mista do Tecido Conjuntivo/diagnóstico , Doença Mista do Tecido Conjuntivo/imunologia , Necrose , Resultado do TratamentoRESUMO
OBJECTIVES: The purpose of this study was to investigate the effect of ageing, occlusal support and TMJ condition and general health status on bite force in older adults. METHODS: The study sample consisted of 850 independently-living people over the age of 60 years. Bilateral maximal bite force in the intercuspal position was measured with pressure sensitive sheets. TMJ noise by palpation and limitation of mouth opening (less than 40 mm) were assessed. Subjects were grouped into three categories by occlusal support according to the Eichner Index. RESULTS: A multiple logistic regression analysis showed that whether participants had low bite force or not was significantly associated with gender, age, self-rated general health and occlusal support, but not TMJ noise or mouth opening limitation. Overall bite force showed a statistically significant but weak negative Spearman's correlation with age (r=-0.24, p<0.001). However, there was no significant correlation between age and bite force in the Eichner C group for males or in any of the Eichner classification for females. CONCLUSIONS: Decline of occlusal support and general health might translate into reduction of bite force with ageing in older adults. Since tooth loss is not physiological ageing but pathological ageing, it cannot be shown that reduction of bite force is a natural effect of ageing.
