Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary glomerular disease

Hereditary glomerular diseases are familial disorders of glomerular structure and function. Histomorphologically, there is disruption in one of the major components of the glomerulus, endothelial cells, glomerular basement membrane, or podocytes. The clinical presentation is dominated by either haematuria, called nephritis, or proteinuria, nephrotic syndrome.

Clinical Findings

If proteinuria exceeds 3g/d, nephrotic syndrome is present, which often is associated with oedema, hypoalbuminaemia, hypertension, and even haematuria. Urinary proteins are of glomerular origin, which can be demonstrated by protein electrophoresis.

Nephritis is dominated by haematuria and hypertension. Although proteinuria might also be present, it never exceeds the limit of 3g/d and never results in hypoalbuminaemia. If tested by protein electrophoresis, urinary proteins show glomerular distribution.

Hereditary glomerular diseases result in reduction of the glomerular filtration rate and progressive renal failure.

Differentials

The diagnosis can be narrowed down if symptoms in other organs are present. The importance of hearing loss, haematological, or ocular abnormalities should be stressed here. Family history may reveal the pattern of inheritance.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Fibronectin glomerulopathy
FN1
Glomerulonephritis
C3 glomerulopathy
C3 glomerulonephritis
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
PIGA
THBD
Dense deposit disease
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
PIGA
THBD
CFHR5 Nephropathy
CFHR5
Goodpasture syndrome
COL4A3
COL4A3BP
COL4A5
Lupus erythematosus nephritis
C1QA
C1QB
C1QC
CFHR1
CFHR3
Membranoproliferative glomerulonephritis (MPGN)
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
CR1 deficiency
CR1
Complement component C1q deficiency
C1QA
C1QB
C1QC
Complement component C1s deficiency
C1S
DGKE
PIGA
THBD
Membranous nephropathy
HLA-DQA1
PLA2R1
Mesangioproliferative glomerulonephritis
CXCR1
Complement component C1q deficiency
C1QA
C1QB
C1QC
IgA nephropathy
CFHR1
CFHR3
CFHR5
IgA nephropathy type 1
IgA nephropathy type 2
IgA nephropathy type 3
SPRY2
Schimke Immunoosseous dysplasia
SMARCAL1
Wiskott–Aldrich syndrome
WAS
Glomerulosclerosis
Familial partial lipodystrophy type 2
LMNA
Focal, segmental glomerulosclerosis (FSGS)
ALG13
ARHGAP24
CLU
Hereditary FSGS type 1
ACTN4
Hereditary FSGS type 2
TRPC6
Hereditary FSGS type 3
CD2AP
Hereditary FSGS type 4
APOL1
Hereditary FSGS type 5
INF2
Hereditary FSGS type 6
MYO1E
Hereditary FSGS type 7
PAX2
ITGA9
LAMA5
NXF5
Frasier syndrome
WT1
Glycogen storage disease 1A
G6PC
Norum disease
LCAT
Lipoprotein glomerulopathy
APOE
Myoclonus-nephropathy syndrome
SCARB2
Nephritic syndrome
CFHR5 Nephropathy
CFHR5
Glomerular basement membrane disorders
Alport Syndrome
COL4A3
COL4A4
COL4A5
HANAC syndrome
COL4A1
COL4A2
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
COL4A5
COL4A6
MYH9 related disorders
Epstein syndrome
MYH9
MYH9
Nail-patella syndrome
LMX1B
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
PXDN
Thin basement membrane nephropathy
COL4A3
COL4A4
COL4A5
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
Hereditary metabolic kidney disease
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

References:

1.

Kashtan CE et al. (2004) Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy.

[^]
2.

Liapis H et al. () Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.

[^]
3.

Lau KK et al. (2005) Glomerulonephritis.

[^]
4.

de Zoysa JR et al. (2005) Podocyte biology in human disease.

[^]
5.

Kriz W et al. (2005) TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.

[^]
6.

Daskalakis N et al. (2006) Focal and segmental glomerulosclerosis: varying biologic mechanisms underlie a final histopathologic end point.

[^]
7.

Shankland SJ et al. (2006) The podocyte's response to injury: role in proteinuria and glomerulosclerosis.

[^]
Update: Sept. 26, 2018