Nephrotic Syndrome Gene Panel
PD Dr. med. Julia Höfele
The nephrotic syndrome (NS) is characterized by dysfunction of the glomerular filtration and excessive loss of plasma proteins (proteinuria) as well as hypoalbuminemia. The consequence is edemas and secondary hyperlipidemia. About 58% of all patients suffering from steroid-resistant NS develop a rapid decrease in renal funtion or even renal failure. According to the various underlying causes of the disease, idiopathic (primary) NS can be distinguished from symptomatic (secondary) types in the context of other underlying conditions (immunological systemic disorders, metabolic disorders, chronic infections, intoxication) and from the congenital type.
All coding exons and their flanking intronic sequences from the genes in the nephrotic syndrome gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).