Congenital nephrotic syndrome of the finnish type: a clinical case

Background. Congenital nephrotic syndrome (CNS) of the Finnish type is a genetic disease caused by a mutation in the gene responsible for the synthesis of the nephrin protein by podocytes. Description of the clinical case. The article presents a clinical case of CNS of the Finnish type in a 1.5-month-old child who has been sick since birth. Upon admission to the Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan on the 7th day of life, the child’s condition was severe due to nephrotic syndrome, hypovolemic disorders, neurological symptoms, and water and electrolyte disorders. A diagnostic search was performed, corrective therapy was prescribed. A molecular genetic study using the panel «Hereditary Kidney Diseases» revealed a mutation in the NPHS1 gene (CNS of the Finnish type). Conclusion. The tactics of management of CNS of the Finnish type is currently not fully defined. The described clinical case shows the severity of the course of the disease, as well as the complexity of managing a patient with this pathology.

congenital nephrotic syndrome, proteinuria, nephrin, NPHS1 mutation