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

Dear Editor, Non-lupus full-house nephropathy is a diagnostic challenge of yet unknown aetiology that does not satisfy criteria for SLE classification [1–3]. 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) [4]. 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. A 9-month-old Brazilian girl, born to non-consanguineous Brazilian parents, presented with nephrotic proteinuria a few days after an upper airway viral infection. After a conservative treatment approach, due to persistent proteinuria, the child received four consecutive days of methylprednisolone pulse and...