Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nephrotic syndrome type 02

Idiopathic nephrotic syndrome is an autosomal recessive disease caused by mutations of the podocin gene.

Management

Glucocorticoids can better be avoided in patients with genetically confirmed steroid resistant nephrotic syndrome. Afters transplantation, recurrence of FSGS is rare, so the patients are best treated by kidney transplant.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
Congenital nephrotic syndrome type 02
NPHS2
Congenital nephrotic syndrome type 03
Congenital nephrotic syndrome type 04
Congenital nephrotic syndrome type 05 (Pierson syndrome)
Congenital nephrotic syndrome type 06
Congenital nephrotic syndrome type 07
Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 10
Congenital nephrotic syndrome type 11
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.

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2.

Boute N et al. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

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3.

Huber TB et al. (2003) Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.

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4.

Orphanet article

Orphanet ID 357502 [^]
5.

OMIM.ORG article

Omim 600995 [^]
6.

Wikipedia article

Wikipedia EN (Nephrotic_syndrome) [^]
Update: May 9, 2019