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Plasma level and genetic variation of apolipoprotein E in patients with lipoprotein glomerulopathy

Chinese Medical Journal 2005年第7期118卷 555-560页

作者： ZHANGBo LIUZhi-hong ZENGCai-hong ZHENGJing-min CHENHui-ping ZHOUHong LILei-shi ResearchInstituteofNephrology JinglingHospitalNanjingUniversitySchoolofMedicineNanjing210002China ResearchInstituteofNephrology JinglingHospitalNanjingUniversitySchoolofMedicineNanjing210002China／／DepartmentofNephrologyFirstAffiliatedHospitalofNanjingMedicalUniversityNanjing210029China

Background lipoprotein glomerulopathy (LPG) is a renal disease characterized by thrombus-like lipoproteins in the glomerular capillaries and its abnormal lipoprotein profiles with marked elevation of apolipoprotein E (apoE). In this study, 15 Chinese patients with LPG were involed in exploring the association of the genetic variation and its plasma level in the pathogenesis of *** A retrospective analysis of the clinical and pathological features was made in 15 patients with LPG. Plasma concentrations of apoE were measured with radial immunodiffusion assay. Genetic variations of apoE gene were detected using polymerase chain reaction and restriction fragment length polymorphism. Glomerular deposition of apoA, apoB and apoE in these patients were detected by immunofluorescence staining using monoclonal antibodies. Results Biochemical profiles of lipids and lipoproteins revealed markedly elevated levels of triglyceride, apoB and apoE, but approximately normal levels of total cholesterol, apoA1 and lipoprotein(a) [Lp(a)], which resembled familial hypertriglyceridemia. Genetic analysis demonstrated that the genotype distribution of apoE were 7 cases with (ε3/ε 4,)4 cases with ε3/ε 3 and 2 cases with ε2/ε 3. The other 2 cases (a mother and her son) showed a same distinct band. The band pattern of later 2 cases was quite similar to the apoE variant of Tokyo type. The calculated allele frequency of ε 4 was relatively high in cases with LPG in comparison with that in the normal controls. We further divided the 13 patients into three groups according to their genotypes of apoE. Patients with the genotype of apoE ε2/ε3 showed a lower level of plasma apoE as compared to those with apoE ε3/ε4 (Plipoprotein (HDL) was the lowest in patients with the genotype of apoE ε3/ε4. No difference was found among the patients with different apoE genotype in the other clinical and pathological characteristics. Conclusions The genotype of apoE ε

关键词： lipoprotein glomerulopathy apolipoprotein E genetic variation

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small region in China:hereditary features,treatment and prognosis

small region in China:hereditary features,treatment and prog...

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第十二次全国医学遗传学学术会议

作者： Hu Zhang-xue Huang Song-min Liu Yun-qiang Zhang Si-zhong Yang Yuan Department of Nephrology and Department of Medical Genetics State Key Laboratory of BiotherapyWest China HospitalSichuan University

Objective lipoprotein glomerulopathy(LPG) is a rare inherited renal disease caused by mutation of the APOE *** is characterized by proteinuria and nephrotic syndrome with elevated serum *** treatment and outcome of LPG remain *** All 35 patients of 31 unrelated Han families were diagnosed as LPG by renal biopsy from the same county in the southwest of *** Kyoto mutation(***25Cys) was detected in LPG patients and 28 asymptomatic relatives by DNA *** All of the mutations shared the same allele *** patients demonstrated proteinuria,higher total triglyceride(TG) and higher serum apoE compared with *** apoE and TG levels of asymptomatic carriers were between LPG patients and *** patients that received treatment of fenofibrate for over 12 months showed clinical ***(50%) reached complete remission(proteinuria <1 g/d with stable serum creatinine) with intensive control of their lipid profile(normalized serum apoE and TG<100 mg/dL).Six(37.5%) reached partial *** 3-year follow-up,patients receiving treatment of fenofibrate had superior survival and stable renal *** To our knowledge,this is the largest series of LPG patients ever reported. Carriers with elevated serum apoE levels and TG may be predisposed to clinical LPG Fenofibrate can induce the remission of LPG(Kidney Int,in press)

关键词： lipoprotein glomerulopathy APOE Kyoto mutation Hereditary feature Treatment Prognosis

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