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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Detalles Bibliográficos
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
Descripción
Sumario: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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