scholarly journals Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation

2014 ◽  
Vol 85 (2) ◽  
pp. 416-424 ◽  
Author(s):  
Zhangxue Hu ◽  
Songmin Huang ◽  
Yu Wu ◽  
Yunqiang Liu ◽  
Xiaoxia Liu ◽  
...  
Keyword(s):  
Lipoprotein Glomerulopathy ◽  
Apoe Kyoto

scholarly journals Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice

2020 ◽  
Author(s):  
Hongyan Wu ◽  
Jing Yang ◽  
Yun-Qiang Liu ◽  
Song Lei ◽  
Mei Yang ◽  
...  
Keyword(s):  
Murine Model ◽  
Recombinant Adenovirus ◽  
Serum Triglyceride ◽  
Multiple Time ◽  
Creatinine Ratio ◽  
Pathogenic Role ◽  
Lipoprotein Glomerulopathy ◽  
Albumin Creatinine Ratio ◽  
Apoe Kyoto ◽  
Deficient Mice

Abstract Background: Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant kidney disease that is most commonly caused by mutations in ApoE Kyoto (p.R43C) and ApoE Sendai (p.R163P). Differences in phenotype among the various ApoE mutations have been suggested, but the pathogenic role of ApoE Kyoto has not been validated in an animal model. This study intended to establish an ApoE Kyoto murine model and to further compare the pathologic differences between ApoE Kyoto and ApoE Sendai.Methods: Male ApoE-deficient mice, 3 months of age, were divided into five groups, including the Ad-ApoE Sendai, Ad-ApoE Kyoto, Ad-ApoE3, Ad-eGFP, and ApoE (−/−) groups. The first four groups received recombinant adenovirus that contained the entire coding regions of the human ApoE Sendai and ApoE Kyoto, apoE3, and eGFP genes, respectively. Fasting blood and urine samples were collected at multiple time points. Lipid profiles and urine albumin–creatinine ratio were measured. Renal and aortic histopathologic alterations were analyzed.Results: After virus injection, plasma human ApoE was detected and rapidly reached the maximum level at 4–6 days in the Ad-ApoE Kyoto and Ad-ApoE Sendai groups (17.4 ± 3.1 µg/mL vs.: 22.2 ± 4.5 µg/mL, respectively) and at 2 days in the Ad-apoE3 group (38.4 µg/mL). The serum total cholesterol decreased by 63%, 65%, and 73% in the Ad-ApoE Kyoto, Ad-ApoE Sendai, and Ad-apoE3 groups, respectively. There were no significant changes in serum triglyceride and urinary albumin–creatinine ratio among the five groups. Typical lipoprotein thrombi with positive ApoE staining were detected in the ApoE Kyoto and ApoE Sendai groups. The Oil-red O-positive glomerular area tended to be higher in the Ad-ApoE Kyoto group (9.2%) than in the Ad-ApoE Sendai (3.9%), Ad-apoE3 (4.8%), Ad-eGFP (2.9%), and ApoE (−/−) (3.6%) groups. The atherosclerotic plaque area in the aorta was lower in the group injected with various ApoE mutations than in the group without injection of ApoE mutation.Conclusions: In this animal study, we first established an ApoE Kyoto mutation murine model and confirmed its pathogenic role in LPG. Our results suggested that LPG may be more severe with the ApoE Kyoto than with the ApoE Sendai.

scholarly journals Case Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Yue Song ◽  
Changqiang Yang ◽  
Lan Liu ◽  
Hua Wang
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Features ◽  
Common Mutation ◽  
Lipoprotein Glomerulopathy ◽  
Genetic Characteristics ◽  
Case Presentation ◽  
Chinese Girl ◽  
Apoe Kyoto ◽  
Oil Red O Staining

Background: Lipoprotein glomerulopathy is a rare kidney disease characterized by lipoprotein thrombi in the glomerulus. Here, we report a case of lipoprotein glomerulopathy in a Chinese pediatric patient. Furthermore, we summarized the clinical features and genetic characteristics of lipoprotein glomerulopathy in China.Case Presentation: An 11-year-old Chinese girl presented with nephrotic syndrome with anemia (98 g/L). After excluding secondary causes, primary nephrotic syndrome was considered. Treatment with prednisone (60 mg/day) did not improve her condition. Renal biopsy showed marked dilation of the capillary lumen with lipoprotein thrombi and positive oil red O staining. Genetic testing revealed the genetic variant c.127C > T (p.R43C), known as the Kyoto mutation of the APOE gene. These findings are consistent with the diagnosis of lipoprotein glomerulopathy. Prednisone was gradually tapered and captopril was initiated. A 2-year follow-up revealed elevated urine protein and serum creatinine levels. We also reviewed 17 pediatric and 156 adult cases of lipoprotein glomerulopathy reported in China from the year of creation to 2021. The most common clinical features were edema, hematuria, hypertriglyceridemia, and increased serum apoE levels. Extra-renal manifestations included anemia, splenomegaly, and cardiac lipoprotein deposition.Conclusion: APOE Kyoto is the most common mutation in patients with lipoprotein glomerulopathy. In China, homozygosity for E3 (E3/3) is the most common isoform.

scholarly journals Five-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation

2016 ◽  
Vol 5 (2) ◽  
pp. 148-153 ◽  
Author(s):  
Ryosuke Usui ◽  
Masaki Takahashi ◽  
Kosaku Nitta ◽  
Minako Koike
Keyword(s):  
Lipoprotein Glomerulopathy ◽  
Apoe Kyoto

scholarly journals Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Hongyan Wu ◽  
Jing Yang ◽  
Yun-Qiang Liu ◽  
Song Lei ◽  
Mei Yang ◽  
...  
Keyword(s):  
Murine Model ◽  
Recombinant Adenovirus ◽  
Serum Triglyceride ◽  
Multiple Time ◽  
Creatinine Ratio ◽  
Pathogenic Role ◽  
Lipoprotein Glomerulopathy ◽  
Albumin Creatinine Ratio ◽  
Apoe Kyoto ◽  
Deficient Mice

AbstractBackgroundLipoprotein glomerulopathy (LPG) is a rare autosomal dominant kidney disease that is most commonly caused by mutations in ApoE Kyoto (p.R43C) and ApoE Sendai (p.R163P). Differences in phenotype among the various ApoE mutations have been suggested, but the pathogenic role of ApoE Kyoto has not been validated in an animal model. This study intended to establish an ApoE Kyoto murine model and to further compare the pathologic differences between ApoE Kyoto and ApoE Sendai.MethodMale ApoE-deficient mice, 3 months of age, were divided into five groups, including the AD-ApoE Sendai, AD-ApoE Kyoto, AD-ApoE3, AD-eGFP, and ApoE (−/−) groups. The first four groups received recombinant adenovirus that contained the entire coding regions of the humanApoE SendaiandApoE Kyoto,apoE3, andeGFPgenes, respectively. Fasting blood and urine samples were collected at multiple time points. Lipid profiles and urine albumin–creatinine ratio were measured. Renal and aortic histopathologic alterations were analyzed.ResultsAfter virus injection, plasma human ApoE was detected and rapidly reached the maximum level at 4–6 days in the AD-ApoE Kyoto and AD-ApoE Sendai groups (17.4 ± 3.1 µg/mL vs.: 22.2 ± 4.5 µg/mL, respectively) and at 2 days in the AD-ApoE3 group (38.4 µg/mL). The serum total cholesterol decreased by 63%, 65%, and 73% in the AD-ApoE Kyoto, AD-ApoE Sendai and AD-ApoE3 groups, respectively. There were no significant changes in serum triglyceride and urinary albumin–creatinine ratio among the five groups. Typical lipoprotein thrombi with positive ApoE staining were detected in the AD-ApoE Kyoto and AD-ApoE Sendai groups. The Oil-red O-positive glomerular area tended to be higher in the AD-ApoE Kyoto group (9.2%) than in the AD-ApoE Sendai (3.9%), AD-ApoE3 (4.8%), AD-eGFP (2.9%), and ApoE (−/−) (3.6%) groups. The atherosclerotic plaque area in the aorta was lower in the group injected with various ApoE mutations than in the group without injection of ApoE mutation.ConclusionsIn this animal study, we first established an ApoE Kyoto mutation murine model and confirmed its pathogenic role in LPG. Our results suggested that LPG may be more severe with the ApoE Kyoto than with the ApoE Sendai.

Long-term follow-up of a paediatric case of lipoprotein glomerulopathy

1990 ◽  
Vol 4 (2) ◽  
pp. 122-128 ◽  
Author(s):  
Yasushi Koitabashi ◽  
Masaaki Ikoma ◽  
Tsuneko Miyahira ◽  
Ryojiro Fujita ◽  
Hitoshi Mio ◽  
...  
Keyword(s):  
Lipoprotein Glomerulopathy ◽  
Paediatric Case ◽  
Long Term Follow Up

scholarly journals Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Joaquim Nelito da Silveira-Neto ◽  
Guilherme Jinson de Oliveira Ahn ◽  
Precil Diego Miranda de Menezes Neves ◽  
Vinicius Augusto Ferreira Baptista ◽  
Stanley de Almeida Araújo ◽  
...  
Keyword(s):  
Latin America ◽  
Family History ◽  
Kidney Disease ◽  
Genetic Analysis ◽  
Apolipoprotein E ◽  
Total Cholesterol ◽  
Kidney Biopsy ◽  
Lipoprotein Glomerulopathy ◽  
History Of ◽  
Secondary Causes

Abstract Background Lipoprotein glomerulopathy (LPG) is a rare autosomal dominant disease caused by mutations in APOE, the gene which encodes apolipoprotein E. LPG mainly affects Asian individuals, however occasional cases have also been described in Americans and Europeans. Herein we report two unrelated Brazilian patients with LPG in whom genetic analyses revealed the APOE-Osaka/Kurashiki variant. Case presentation - case 1 A 29-year-old Caucasian male sought medical attention with complaints of face swelling and foamy urine for the last 3 months. He denied a family history of kidney disease, consanguinity, or Asian ancestry. His tests showed proteinuria of 12.5 g/24 h, hematuria, serum creatinine 0.94 mg/dL, albumin 2.3 g/dl, total cholesterol 284 mg/dL, LDL 200 mg/dL, triglycerides 175 mg/dL, and negative screening for secondary causes of glomerulopathy. A kidney biopsy revealed intraluminal, laminated deposits of hyaline material in glomerular capillaries consistent with lipoprotein thrombi. These findings were confirmed by electron microscopy, establishing the diagnosis of LPG. His apolipoprotein E serum level was 72 mg/dL and genetic analysis revealed the APOE pathogenic variant c.527G > C, p.Arg176Pro in heterozygosis, known as the Osaka/Kurashiki mutation and positioned nearby the LDL receptor binding site. Case 2 A 34-year-old Caucasian man sought medical assessment for renal dysfunction and hypertension. He reported intermittent episodes of lower-limb edema for 3 years and a family history of kidney disease, but denied Asian ancestry. Laboratorial tests showed BUN 99 mg/dL, creatinine 10.7 mg/dL, total cholesterol 155 mg/dL, LDL 79 mg/dL, triglycerides 277 mg/dL, albumin 3.1 g/dL, proteinuria 2.7 g/24 h, and negative screening for secondary causes of glomerulopathy. His kidney biopsy was consistent with advanced chronic nephropathy secondary to LPG. A genetic analysis also revealed the Osaka/Kurashiki variant. He was transplanted a year ago, displaying no signs of disease relapse. Conclusion We report two unrelated cases of Brazilian patients with a diagnosis of lipoprotein glomerulopathy whose genetic assessment identified the APOE-Osaka/Kurashiki pathogenic variant, previously only described in eastern Asians. While this is the second report of LPG in Latin America, the identification of two unrelated cases by our medical team raises the possibility that LPG may be less rare in this part of the world than currently thought, and should definitely be considered when nephrotic syndrome is associated with suggestive kidney biopsy findings.

scholarly journals SP096STUDY ON MUTATIONS OF CHINESE PATIENTS WITH LIPOPROTEIN GLOMERULOPATHY

2018 ◽  
Vol 33 (suppl_1) ◽  
pp. i377-i377
Author(s):  
Yang Mingxin ◽  
Pan Xiaoxia ◽  
Liu Yunzi ◽  
Shi Manman ◽  
Yu Xialian ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Lipoprotein Glomerulopathy

Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China

2010 ◽  
Vol 114 (4) ◽  
pp. c260-c267 ◽  
Author(s):  
Jia Han ◽  
Yongli Pan ◽  
Yuqing Chen ◽  
Xia Li ◽  
Guangqun Xing ◽  
...  
Keyword(s):  
Apolipoprotein E ◽  
Gene Mutations ◽  
Lipoprotein Glomerulopathy ◽  
E Gene ◽  
Apolipoprotein E Gene

scholarly journals Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Lara Kollbrunner ◽  
Patricia Hirt-Minkowski ◽  
Javier Sanz ◽  
Elena Bresin ◽  
Thomas J. Neuhaus ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor ◽  
Inherited Disease ◽  
Lipoprotein Glomerulopathy ◽  
Gene Encoding ◽  
Alternative Complement ◽  
Uremic Syndrome ◽  
The Complement System

Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.

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