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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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
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Language:English
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Genetics
Human genetics
Human health and pathology
Life Sciences
Nephrology Round
Urology and Nephrology
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cited_by cdi_FETCH-LOGICAL-c452t-895657185bf96a111eeadbc12109193916c0faa2699e1463a9f12c56296a322b3
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container_issue 8
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container_title Kidney international reports
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creator 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
description 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.
doi_str_mv 10.1016/j.ekir.2019.04.014
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subjects Genetics
Human genetics
Human health and pathology
Life Sciences
Nephrology Round
Urology and Nephrology
title COPA Syndrome as a Cause of Lupus Nephritis
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