Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

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 t...

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Autores principales: Kollbrunner, Lara, Hirt-Minkowski, Patricia, Sanz, Javier, Bresin, Elena, Neuhaus, Thomas J., Hopfer, Helmut, Jehle, Andreas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206272/
https://www.ncbi.nlm.nih.gov/pubmed/34150810
http://dx.doi.org/10.3389/fmed.2021.679048
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author Kollbrunner, Lara
Hirt-Minkowski, Patricia
Sanz, Javier
Bresin, Elena
Neuhaus, Thomas J.
Hopfer, Helmut
Jehle, Andreas W.
author_facet Kollbrunner, Lara
Hirt-Minkowski, Patricia
Sanz, Javier
Bresin, Elena
Neuhaus, Thomas J.
Hopfer, Helmut
Jehle, Andreas W.
author_sort Kollbrunner, Lara
collection PubMed
description 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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spelling pubmed-82062722021-06-17 Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome Kollbrunner, Lara Hirt-Minkowski, Patricia Sanz, Javier Bresin, Elena Neuhaus, Thomas J. Hopfer, Helmut Jehle, Andreas W. Front Med (Lausanne) Medicine 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. Frontiers Media S.A. 2021-06-02 /pmc/articles/PMC8206272/ /pubmed/34150810 http://dx.doi.org/10.3389/fmed.2021.679048 Text en Copyright © 2021 Kollbrunner, Hirt-Minkowski, Sanz, Bresin, Neuhaus, Hopfer and Jehle. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Medicine
Kollbrunner, Lara
Hirt-Minkowski, Patricia
Sanz, Javier
Bresin, Elena
Neuhaus, Thomas J.
Hopfer, Helmut
Jehle, Andreas W.
Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title_full Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title_fullStr Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title_full_unstemmed Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title_short Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome
title_sort case report: lipoprotein glomerulopathy complicated by atypical hemolytic uremic syndrome
topic Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8206272/
https://www.ncbi.nlm.nih.gov/pubmed/34150810
http://dx.doi.org/10.3389/fmed.2021.679048
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