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Congenital and infantile nephrotic syndrome

Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD


The term congenital nephrotic syndrome (CNS) refers to disease that is present at birth or within the first three months of life. Later onset, between three months and one year of age, is called infantile nephrotic syndrome. Most of these children have a genetic basis for the renal disease and a poor outcome. The precise diagnosis of the glomerular lesion is based on clinical, laboratory, and histological criteria.

The causes of congenital and infantile nephrotic syndrome will be discussed here.


The results of four reports indicate that mutations in five different genes are responsible for more than 80 percent of congenital nephrotic syndrome (CNS) cases (table 1).

NPHS1, which encodes nephrin (a key component of the podocyte slit diaphragm) and is responsible for the Finnish-type congenital nephrotic syndrome. (See 'Congenital Nephrotic Syndrome of Finnish type' below.)

NPHS2, which encodes podocin (a protein that interacts with nephrin at the slit diaphragm) and is responsible for familial focal segmental glomerulosclerosis (FSGS). (See 'Congenital Nephrotic Syndrome and NPHS2 mutations' below.)

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Literature review current through: Nov 2017. | This topic last updated: Oct 24, 2017.
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