Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrotic syndrome

Nephrotic syndrome is defined as a complex of nephrological symptoms dominated by severe proteinuria.

Symptoms

Proteinuria
All subtypes of congenital nephrotic syndrome are characterized by mostly nephrotic range (more than 3,5g/d) proteinuria.

Systematic

Hereditary glomerular disease
Fibronectin glomerulopathy
Glomerulonephritis
Glomerulosclerosis
Lipoprotein glomerulopathy
Myoclonus-nephropathy syndrome
Nephritic syndrome
Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
NPHS1
Congenital nephrotic syndrome type 02
NPHS2
Congenital nephrotic syndrome type 03
PLCE1
Congenital nephrotic syndrome type 04
WT1
Congenital nephrotic syndrome type 05 (Pierson syndrome)
LAMB2
Congenital nephrotic syndrome type 06
PTPRO
Congenital nephrotic syndrome type 07
DGKE
Congenital nephrotic syndrome type 08
ARHGDIA
Congenital nephrotic syndrome type 09
COQ8B
Congenital nephrotic syndrome type 10
EMP2
Congenital nephrotic syndrome type 11
NUP107
Congenital nephrotic syndrome type 12
NUP93
Congenital nephrotic syndrome type 13
NUP205
Donnai-Barrow syndrome
LRP2
GPC5
Glomerulotubular nephropathy
FAT1
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3
Lipoprotein glomerulopathy
APOE
Schimke Immunoosseous dysplasia
SMARCAL1
XPO5

References:

1.

Weber S et al. (2005) Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.

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2.

None (2003) Podocyte differentiation and hereditary proteinuria/nephrotic syndromes.

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3.

None (2003) Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.

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4.

Tryggvason K et al. (2006) Hereditary proteinuria syndromes and mechanisms of proteinuria.

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5.

Orphanet article

Orphanet ID 1830 [^]
6.

Wikipedia article

Wikipedia EN (Nephrotic_syndrome) [^]
Update: April 29, 2019