Full-house nephropathy associated with high expression of SPATA5L1 due to a genetic pathogenic variant

Abstract

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.