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

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 B...

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Autores principales: da Silveira-Neto, Joaquim Nelito, de Oliveira Ahn, Guilherme Jinson, de Menezes Neves, Precil Diego Miranda, Baptista, Vinicius Augusto Ferreira, de Almeida Araújo, Stanley, Wanderley, David Campos, Watanabe, Andréia, Watanabe, Elieser Hitoshi, Murai, Neide Missae, Bertollo, Eny Maria Goloni, Vieira-Neto, Osvaldo Merege, Dantas, Márcio, de Antônio, Sergio Ricardo, Costa, Roberto Silva, Baptista, Maria Alice Sperto Ferreira, Moysés-Neto, Miguel, Onuchic, Luiz Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314595/
https://www.ncbi.nlm.nih.gov/pubmed/34311745
http://dx.doi.org/10.1186/s13000-021-01119-x
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author da Silveira-Neto, Joaquim Nelito
de Oliveira Ahn, Guilherme Jinson
de Menezes Neves, Precil Diego Miranda
Baptista, Vinicius Augusto Ferreira
de Almeida Araújo, Stanley
Wanderley, David Campos
Watanabe, Andréia
Watanabe, Elieser Hitoshi
Murai, Neide Missae
Bertollo, Eny Maria Goloni
Vieira-Neto, Osvaldo Merege
Dantas, Márcio
de Antônio, Sergio Ricardo
Costa, Roberto Silva
Baptista, Maria Alice Sperto Ferreira
Moysés-Neto, Miguel
Onuchic, Luiz Fernando
author_facet da Silveira-Neto, Joaquim Nelito
de Oliveira Ahn, Guilherme Jinson
de Menezes Neves, Precil Diego Miranda
Baptista, Vinicius Augusto Ferreira
de Almeida Araújo, Stanley
Wanderley, David Campos
Watanabe, Andréia
Watanabe, Elieser Hitoshi
Murai, Neide Missae
Bertollo, Eny Maria Goloni
Vieira-Neto, Osvaldo Merege
Dantas, Márcio
de Antônio, Sergio Ricardo
Costa, Roberto Silva
Baptista, Maria Alice Sperto Ferreira
Moysés-Neto, Miguel
Onuchic, Luiz Fernando
author_sort da Silveira-Neto, Joaquim Nelito
collection PubMed
description 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.
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spelling pubmed-83145952021-07-28 Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America da Silveira-Neto, Joaquim Nelito de Oliveira Ahn, Guilherme Jinson de Menezes Neves, Precil Diego Miranda Baptista, Vinicius Augusto Ferreira de Almeida Araújo, Stanley Wanderley, David Campos Watanabe, Andréia Watanabe, Elieser Hitoshi Murai, Neide Missae Bertollo, Eny Maria Goloni Vieira-Neto, Osvaldo Merege Dantas, Márcio de Antônio, Sergio Ricardo Costa, Roberto Silva Baptista, Maria Alice Sperto Ferreira Moysés-Neto, Miguel Onuchic, Luiz Fernando Diagn Pathol Case Report 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. BioMed Central 2021-07-26 /pmc/articles/PMC8314595/ /pubmed/34311745 http://dx.doi.org/10.1186/s13000-021-01119-x Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
da Silveira-Neto, Joaquim Nelito
de Oliveira Ahn, Guilherme Jinson
de Menezes Neves, Precil Diego Miranda
Baptista, Vinicius Augusto Ferreira
de Almeida Araújo, Stanley
Wanderley, David Campos
Watanabe, Andréia
Watanabe, Elieser Hitoshi
Murai, Neide Missae
Bertollo, Eny Maria Goloni
Vieira-Neto, Osvaldo Merege
Dantas, Márcio
de Antônio, Sergio Ricardo
Costa, Roberto Silva
Baptista, Maria Alice Sperto Ferreira
Moysés-Neto, Miguel
Onuchic, Luiz Fernando
Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title_full Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title_fullStr Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title_full_unstemmed Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title_short Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America
title_sort lipoprotein glomerulopathy associated with the osaka/kurashiki apoe variant: two cases identified in latin america
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314595/
https://www.ncbi.nlm.nih.gov/pubmed/34311745
http://dx.doi.org/10.1186/s13000-021-01119-x
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