| [ Summary ] |
During the last decade, there have been scientific breakthroughs concerning the etiology of congenital nephrotic syndrome. Mutations of the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type (CNF). Mutations of the WT1 gene cause diffuse mesangial sclerosis (DMS). The NPHS1 gene encodes nephrin and the WT1 gene encodes transcription factors for development of the kidnies, urinary organs and genital organs. In spite of knowledge concerning gene function, therapeutic management for congenital nephrotic syndrome is still challenging. Infusions of albumin, use of diuretics as well as hemi or bilateral nephrectomies are essential treatments to control severe edema in CNF cases. Antithrombotic treatments along with thyroid hormone and tube feeding are also crucial elements in the treatment of CNF. Prevention of severe complications such as sepsis, thrombosis and severe growth impairment is a key factor in treatment of this condition. Patients with CNF develop end stage renal failure at around 2 to 3 years of age, but patients with DMS generally display renal failure at diagnosis. Therefore, supportive therapy, including peritoneal dialysis for renal failure, is a primary treatment for patients with DMS. The end goal of therapy for CNF and DMS is renal transplantation. |