Kollbrunner, Lara; Hirt-Minkowski, Patricia; Sanz, Javier; Bresin, Elena; Neuhaus, Thomas J; Hopfer, Helmut; Jehle, Andreas W (2021). Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome. Frontiers in medicine, 8, p. 679048. Frontiers 10.3389/fmed.2021.679048
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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.
Item Type: |
Journal Article (Further Contribution) |
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Division/Institute: |
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Human Genetics |
UniBE Contributor: |
Sanz, Javier |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
2296-858X |
Publisher: |
Frontiers |
Language: |
English |
Submitter: |
André Schaller |
Date Deposited: |
23 Dec 2021 08:23 |
Last Modified: |
05 Dec 2022 15:57 |
Publisher DOI: |
10.3389/fmed.2021.679048 |
PubMed ID: |
34150810 |
Uncontrolled Keywords: |
apolipoprotein E atypical hemolytic uremic syndrome case report complement factor-H related 1 lipoprotein glomerulopathy nephrotic syndrome thrombotic microangiopathy |
BORIS DOI: |
10.48350/162643 |
URI: |
https://boris.unibe.ch/id/eprint/162643 |
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