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

doi:10.3389/fmed.2021.679048

Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

Front Med (Lausanne). 2021 Jun 2:8:679048. doi: 10.3389/fmed.2021.679048. eCollection 2021.

Authors

Lara Kollbrunner¹, Patricia Hirt-Minkowski², Javier Sanz³, Elena Bresin⁴, Thomas J Neuhaus⁵, Helmut Hopfer⁶, Andreas W Jehle^{1

2}

Affiliations

¹ Department of Internal Medicine, Hirslanden Klinik St. Anna, Lucerne, Switzerland.
² Transplantation Immunology and Nephrology, University Hospital Basel, Basel, Switzerland.
³ Division of Human Genetics, University Hospital of Bern, Bern, Switzerland.
⁴ Istituto di Ricerche Farmacologiche Mario Negri Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Bergamo, Italy.
⁵ Department of Pediatrics, Lucerne Children's Hospital, Cantonal Hospital Lucerne, Lucerne, Switzerland.
⁶ Institute for Pathology, University Hospital Basel, Basel, Switzerland.

Abstract

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.

Keywords: apolipoprotein E; atypical hemolytic uremic syndrome; case report; complement factor-H related 1; lipoprotein glomerulopathy; nephrotic syndrome; thrombotic microangiopathy.

Publication types

Case Reports