PDF(Pubmed)
Abstract：
UNASSIGNED: Lipoprotein glomerulopathy (LPG) is a rare disorder characterized by the development of glomerular lipoprotein thrombosis. LPG exhibits familial aggregation, with mutations in the apolipoprotein E (APOE) gene identified as the leading cause of this disease. This study aimed to investigate APOE gene mutations and the clinicopathological features in eleven LPG patients.
UNASSIGNED: Clinicopathological and follow-up data were obtained by extracting DNA, followed by APOE coding region sequencing analysis. This study analyzed clinical and pathological manifestations, gene mutations, treatment and prognosis.
UNASSIGNED: The mean age of the eleven patients was 33.82 years. Among them, five had a positive family history for LPG, ten presented with proteinuria, four exhibited nephrotic syndrome, and six presented with microscopic hematuria. Dyslipidemia was identified in ten patients. In all renal specimens, there was evident dilation of glomerular capillary lumens containing lipoprotein thrombi, and positive oil red O staining was observed in frozen sections of all samples. APOE gene testing revealed that one patient had no mutations, while the remaining ten patients exhibited mutations in the APOE gene, with three patients presenting with multiple mutations simultaneously. Following the confirmation of LPG diagnosis, treatment with angiotensin-converting enzyme inhibitor (ACEI)/angiotensin receptor blocker (ARB) was initiated, and the disease progressed slowly.
UNASSIGNED: LPG is histologically characterized by lamellated lipoprotein thrombi in glomeruli, and kidney biopsy is essential for diagnosis. Mutations in the APOE gene are the leading cause of LPG. This study revealed clinicopathological characteristics and APOE gene mutations in patients with LPG, which helps us better understand the disease.
UNASSIGNED: Clinicopathological and follow-up data were obtained by extracting DNA, followed by APOE coding region sequencing analysis. This study analyzed clinical and pathological manifestations, gene mutations, treatment and prognosis.
UNASSIGNED: The mean age of the eleven patients was 33.82 years. Among them, five had a positive family history for LPG, ten presented with proteinuria, four exhibited nephrotic syndrome, and six presented with microscopic hematuria. Dyslipidemia was identified in ten patients. In all renal specimens, there was evident dilation of glomerular capillary lumens containing lipoprotein thrombi, and positive oil red O staining was observed in frozen sections of all samples. APOE gene testing revealed that one patient had no mutations, while the remaining ten patients exhibited mutations in the APOE gene, with three patients presenting with multiple mutations simultaneously. Following the confirmation of LPG diagnosis, treatment with angiotensin-converting enzyme inhibitor (ACEI)/angiotensin receptor blocker (ARB) was initiated, and the disease progressed slowly.
UNASSIGNED: LPG is histologically characterized by lamellated lipoprotein thrombi in glomeruli, and kidney biopsy is essential for diagnosis. Mutations in the APOE gene are the leading cause of LPG. This study revealed clinicopathological characteristics and APOE gene mutations in patients with LPG, which helps us better understand the disease.
摘要：
■脂蛋白肾小球病（LPG）是一种罕见的疾病，其特征是肾小球脂蛋白血栓形成。液化石油气表现出家族性聚集，载脂蛋白E（APOE）基因突变被确定为这种疾病的主要原因。本研究旨在探讨11例LPG患者APOE基因突变及临床病理特征。
■通过提取DNA获得临床病理和随访数据，然后进行APOE编码区测序分析。本研究分析了临床和病理表现,基因突变,治疗和预后。
■11名患者的平均年龄为33.82岁。其中,5人有液化石油气阳性家族史,十个人出现蛋白尿，其中4人出现肾病综合征,6例出现镜下血尿。10例患者出现血脂异常。在所有肾脏标本中,含有脂蛋白血栓的肾小球毛细血管腔明显扩张，在所有样品的冷冻切片中观察到阳性油红O染色。APOE基因检测显示一名患者没有突变,而其余的10名患者表现出APOE基因突变，三名患者同时出现多种突变。LPG诊断确认后，开始使用血管紧张素转换酶抑制剂（ACEI）/血管紧张素受体阻滞剂（ARB）治疗，疾病进展缓慢。
■LPG的组织学特征是肾小球中的层状脂蛋白血栓，肾活检对诊断至关重要。APOE基因突变是LPG的主要原因。本研究揭示了LPG患者的临床病理特征和APOE基因突变,这有助于我们更好地了解疾病。
■通过提取DNA获得临床病理和随访数据，然后进行APOE编码区测序分析。本研究分析了临床和病理表现,基因突变,治疗和预后。
■11名患者的平均年龄为33.82岁。其中,5人有液化石油气阳性家族史,十个人出现蛋白尿，其中4人出现肾病综合征,6例出现镜下血尿。10例患者出现血脂异常。在所有肾脏标本中,含有脂蛋白血栓的肾小球毛细血管腔明显扩张，在所有样品的冷冻切片中观察到阳性油红O染色。APOE基因检测显示一名患者没有突变,而其余的10名患者表现出APOE基因突变，三名患者同时出现多种突变。LPG诊断确认后，开始使用血管紧张素转换酶抑制剂（ACEI）/血管紧张素受体阻滞剂（ARB）治疗，疾病进展缓慢。
■LPG的组织学特征是肾小球中的层状脂蛋白血栓，肾活检对诊断至关重要。APOE基因突变是LPG的主要原因。本研究揭示了LPG患者的临床病理特征和APOE基因突变,这有助于我们更好地了解疾病。
