Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

Lara Kollbrunner; Patricia Hirt-Minkowski; Javier Sanz; Elena Bresin; Thomas J. Neuhaus; Helmut Hopfer; Andreas W. Jehle; Andreas W. Jehle

doi:10.3389/fmed.2021.679048

Frontiers in Medicine (Jun 2021)

Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

Lara Kollbrunner,
Patricia Hirt-Minkowski,
Javier Sanz,
Elena Bresin,
Thomas J. Neuhaus,
Helmut Hopfer,
Andreas W. Jehle,
Andreas W. Jehle

Affiliations

Lara Kollbrunner: Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland
Patricia Hirt-Minkowski: Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland
Javier Sanz: Division of Human Genetics, University Hospital of Bern, Bern, Switzerland
Elena Bresin: Istituto di Ricerche Farmacologiche Mario Negri Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Bergamo, Italy
Thomas J. Neuhaus: Department of Pediatrics, Lucerne Children's Hospital, Cantonal Hospital Lucerne, Lucerne, Switzerland
Helmut Hopfer: Institute for Pathology, University Hospital Basel, Basel, Switzerland
Andreas W. Jehle: Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland
Andreas W. Jehle: Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland

DOI: https://doi.org/10.3389/fmed.2021.679048
Journal volume & issue: Vol. 8

Abstract

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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.

Published in Frontiers in Medicine

ISSN: 2296-858X (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Medicine: Medicine (General)
Website: http://www.frontiersin.org/journals/medicine

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