Full-house nephropathy associated with high expression of SPATA5L1 due to a genetic pathogenic variant.
| Autor: | Carvalho, Luciana Martins de, Sousa, Graziella Ribeiro de, Moura, Ronald, Saggioro, Fabiano, Facincani, Inalda, Costa, Roberto, Kahwage, Paola Pinheiro, Queiroz, Rosane Gomes de Paula, Valera, Elvis Terci, Crovella, Sergio, Sandrin-Garcia, Paula |
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| Předmět: |
THERAPEUTIC use of immunoglobulins
KIDNEY disease treatments CONSERVATIVE treatment METHYLPREDNISOLONE LUPUS nephritis BIOPSY SEQUENCE analysis IMMUNOHISTOCHEMISTRY IMMUNOSUPPRESSION GENE expression TREATMENT effectiveness PROTEINURIA FLUORESCENT antibody technique IMMUNITY BONE marrow diseases GLOMERULONEPHRITIS MESALAMINE |
| Zdroj: | Rheumatology; Apr2022, Vol. 61 Issue 4, pe84-e86, 3p |
| Abstrakt: | The article describes a non-lupus full-house nephropathy case showing high SPATA5L1 protein expression in the kidney and other tissues due to a pathogenic missense genetic variant. Topics discussed include medical case of a nine-month-old Brazilian girl with nephrotic proteinuria a few days after an upper airway viral infection, treatment received by the patient, and link found between the augmented expression of SPATA5L1 protein and non-lupus full-house nephritis. |
| Databáze: | Complementary Index |
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