Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder resulting from mutations in the We describe the salient features of a newborn with CNF and multiple fetal ano Show more
Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder resulting from mutations in the We describe the salient features of a newborn with CNF and multiple fetal anomalies based on clinical risk factors discovered by ultrasound (US) and X-rays, which include cardiomegaly, polycystic kidney disease, and renal dysplasia. Biochemical tests showed substantial proteinuria and excess protein in the urine detected at birth; this condition caused albuminuria, hypoalbuminemia, edema, and additional symptoms. The patient underwent treatment to reduce the risks of proteinuria, hypertension, infection, and other symptoms. The next generation sequencing (NGS) analysis revealed that the infant had five previously unreported heterozygous missense variants classified as VUS in The infant's illness may be related to changes in exonic splicing caused by Show less