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
	Congenital nephrotic syndrome type 14
	Congenital nephrotic syndrome type 15
	Congenital nephrotic syndrome type 16
	Congenital nephrotic syndrome type 17
	Congenital nephrotic syndrome type 18
	Congenital nephrotic syndrome type 19
	Congenital nephrotic syndrome type 20
	Congenital nephrotic syndrome type 21
	Congenital nephrotic syndrome type 22
	Congenital nephrotic syndrome type 23
	Congenital nephrotic syndrome type 24
	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.

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

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.

4.	Orphanet article Orphanet ID 357502

5.	OMIM.ORG article Omim 600995

6.	Wikipedia article Wikipedia EN (Nephrotic_syndrome)

Update: Aug. 14, 2020

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