Nephrotic syndrome, IIa 26

Nephrotic syndrome type 26 (NPHS26) is an autosomal recessive renal disorder characterized by onset of proteinuria in the first months or years of life. Other features may include edema and hypoalbuminemia. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), diffuse mesangial sclerosis (DMS), abnormalities of the glomerular basement membrane, and effacement of podocyte foot processes. There is variability in disease progression and response to treatment: some patients respond to steroids, whereas others show steroid resistance and progression to end-stage renal disease (ESRD) (Braun et al., 2019; Taniguchi et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (256300). [from OMIM]