Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

Frontiers in Medicine

Lara Kollbrunner¹  Andreas W. Jehle²  Thomas J. Neuhaus³  Javier Sanz⁴  Helmut Hopfer⁵  Elena Bresin⁶  Patricia Hirt-Minkowski⁷ 

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

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

DOI  :  10.3389/fmed.2021.679048

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY