COPA syndrome as a cause of lupus nephritis
Résumé
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.
Origine : Publication financée par une institution
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