BR2021 / Boryung Group - LARVOL DELTA

Congenital Nephrotic Syndrome in a Hispanic Neonate Due to a Rare NPHS1 c.3024A>G Variant (KIDNEY WEEK 2025) - "The sole published case (DOI: 10.3892/br.2021.1487) proposed that this synonymous change disrupts FOX1L1/FOXC1 binding in exon 22, dysregulating nephrin expression...The patient eventually developed edema at approximately DOL 21 and therapy comprised IV albumin infusions along with furosemide, metolazone, indomethacin, captopril, and enoxaparin...First, we describe a “silent” NPHS1 variant that is likely pathogenic; early genetic testing is therefore essential for accurate diagnosis and counseling. Second, family-centered and multidisciplinary approach can achieve patient stability with medical management alone, especially in rare genetic diseases."

Genetic Disorders • Glomerulonephritis • Nephrology • Renal Disease • FOXC1 • NPHS1