ERKNet

The workgroup for hereditary glomerulopathies covers the inherited, steroid-resistant forms of nephrotic syndrome (the "podocytopathies"), Alport and thin basement membrane syndrome (the "collagenopathies"), and rare metabolic disorders affecting the glomerulus (such as in Fabry disease).

Pediatric and adult nephrologists closely collaborate in the workgroup to provide the full expertise required to diagnose and treat these life-long disorders, which can manifest at highly variable age. The group works with expert geneticists from the Molecular Diagnostics Taskforce to ensure state-of-the-art diagnostics and family counseling. The workgroup aims to develop guidelines and pathways wherever needed for efficient management of these challenging disorders.

Besides harmonizing clinical management, the workgroup members are dedicated to develop an active research agenda to identify new disease causing genes, investigate genetic and biochemical markers predicting the likely course of the diseases, and embark in clinical trials exploring new therapies to stabilize or improve kidney function and slow down the progression to end-stage kidney disease.   

https://www.ncbi.nlm.nih.gov/sites/myncbi/16OGr3PMvnNkz/collections/58276484/public/