What are the Symptoms of NPHS1-Related Conditions?
Infants with mutations in the NPHS1 gene often exhibit symptoms of CNS, which include severe proteinuria (excess protein in the urine), hypoalbuminemia (low levels of albumin in the blood), and edema (swelling due to fluid retention). These symptoms usually appear within the first few months of life. Other possible signs include poor growth and an increased risk of infections.