Clinical feature: 

Definition: 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 picture: 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.

Diagnostics: 

Differential: 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.

Literature: 

Shankland SJ et al. (2006) The podocyte's response to injury: role in proteinuria and glomerulosclerosis.
Daskalakis N et al. (2006) Focal and segmental glomerulosclerosis: varying biologic mechanisms underlie a final histopathologic end point.
Kriz W et al. (2005) TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
de Zoysa JR et al. (2005) Podocyte biology in human disease.
Lau KK et al. (2005) Glomerulonephritis.
Liapis H et al. () Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.
Kashtan CE et al. (2004) Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy.