Full-house nephropathy associated with high expression of SPATA5L1 due to a genetic pathogenic variant
التاريخ
2022-04-01المؤلف
De Carvalho, Luciana MartinsDe Sousa, Graziella Ribeiro
Moura, Ronald
Saggioro, Fabiano
Facincani, Inalda
Costa, Roberto
Kahwage, Paola Pinheiro
De Paula Queiroz, Rosane Gomes
Valera, Elvis Terci
Crovella, Sergio
Sandrin-Garcia, Paula
...show more authors ...show less authors
البيانات الوصفية
عرض كامل للتسجيلةالملخص
DEAR EDITOR, Non-lupus full-house nephropathy is a diagnostic challenge of yet unknown aetiology that does not satisfy criteria for SLE classification . Spermatogenesis-associated protein 5-like protein 1 (SPATA5L1) is ubiquitously expressed in kidney and other tissues and has been previously associated with renal failure and chronic kidney disease (CKD) .
We describe 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. The study was approved by the Clinical Hospital of the Ribeirão Preto Medical School Research Ethics Committee (process number 3.454.601/2019), and written informed consent was obtained from the parents.
معرّف المصادر الموحد
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85128489117&origin=inwardالمجموعات
- العلوم البيولوجية والبيئية [881 items ]