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MOLECULAR BASIS OF INHERITED GLOMERULAR DISEASE

Karl Tryggvason, MD, PhD

Karolinska Institutet, Stockholm, Sweden

Capillary ultrafiltration of blood into urine ocurs in the up to one million glomeruli present in a human kidney. The glomerulus is a highly sophisticated organelle that is affected in a large number of diseases leading to kidney dysfunctions, such as proteinuria and hematuria which frequently result in glomerulosclerosis and renal failure, and diseases like diabetic nephropathy and different forms of nephrotic syndromes are a huge clinical problem. Understanding of the molecular mechanisms of glomerular filtration and the pathomechanisms of glomerular diseases has for long been a major challenge of kidney research. In recent years there has been significant progress in this field, and work on inherited glomerulopathies and studies in genetically modified mice have greatly contributed to this new knowledge. Thus, recent studies on genetic diseases, such as Alport syndrome, congenital nephrotic syndromes and focal segmental glomerulosclerosis have led to the discovery of molecules with a primary role in the glomerular filtration barrier and how their malfunction can lead to glomerular disease. This presentation will summarize recent work on the molecular basis of genetic glomerulopathies and its impact on understanding the nature of the filtration barrier and its diseases.