Congenital nephrotic syndrome

Abstract EN

The congenital nephritic syndrome (CNS) is an uncommon disorder with onset of the nephritic syndrome usually in the first three months of life.

Several different diseases may cause the syndrome.

These may be inherited, sporadic, acquired or part of a general malformation syndrome.

The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and / or uremia.

A characteristic phenotype may be seen in children with CNS.

The majority of reported cases of CNS are of the Finnish type (CNF).

Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall.

The gene (NPHS1) was shown to encode a novel protein that was termed nephric, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure.

Nephric is a trans membrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure.

Defects in nephric lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure.