Five-Year Follow-Up and Successful Kidney Transplantation in a Girl with a Severe Phenotype of Pierson Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Nephron"
DOI: 10.1159/000516247
Abstract: Pierson syndrome (PIERSS) is a rare autosomal recessive disorder characterized by the combination of congenital nephrotic syndrome (CNS) and extrarenal symptoms including ocular malformations and neurodevelopmental deficits. PIERSS is caused by biallelic pathogenic variants in… read more here.
Keywords: kidney transplantation; severe phenotype; pierson syndrome; syndrome ... See more keywords
Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2017060690
Abstract: Background Laminin α5β2γ1 (LM-521) is a major component of the GBM. Mutations in LAMB2 that prevent LM-521 synthesis and/or secretion cause Pierson syndrome, a rare congenital nephrotic syndrome with diffuse mesangial sclerosis and ocular and… read more here.
Keywords: laminin 521; hlm 521; 521 protein; pierson syndrome ... See more keywords