COPA Syndrome as a Cause of Lupus Nephritis

Genetic kidney diseases are rare situations resulting from mutations in genes expressed in major structures of the kidney, including podocytes, tubular cells, and basement membrane.1 More recently, a new field of monogenic inflammatory diseases has been identified2; these immune-mediated diseases ca...

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Bibliographic Details
Published in:Kidney international reports 2019-08, Vol.4 (8), p.1187-1189
Main Authors: Boulisfane-El Khalifi, Siham, Viel, Sebastien, Lahoche, Annie, Frémond, Marie-Louise, Lopez, Jonathan, Lombard, Christine, Dubos, Francois, Reumaux, Héloise, Gnemmi, Viviane, Legendre, Marie, Crow, Yanick J, Thumerelle, Caroline, Belot, Alexandre
Format: Article
Language:English
Subjects:
Genetics
Human genetics
Human health and pathology
Life Sciences
Nephrology Round
Urology and Nephrology
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Summary:Genetic kidney diseases are rare situations resulting from mutations in genes expressed in major structures of the kidney, including podocytes, tubular cells, and basement membrane.1 More recently, a new field of monogenic inflammatory diseases has been identified2; these immune-mediated diseases can affect all organs, including the kidney. Here we report on a young girl diagnosed with lupus nephritis and carrying a mutation in the COPA gene encoding for coatomer protein complex subunit alpha.
ISSN:2468-0249
2468-0249
DOI:10.1016/j.ekir.2019.04.014