Program structure

Global objectives: In this consortium, we have mobilized a critical mass of expertise to investigate, on a Europe-wide scale, the natural history and pathophysiology of a series of rare inherited diseases affecting the kidney. The project uses and develops multiple models with the aim to develop preventive, diagnostic and therapeutic interventions. A central part is the creation of a European registry and a network of genetic laboratories to foster a tight interaction between physicians and researchers, promote clinical and basic research, and ensure the efficient dissemination of knowledge.
EUNEFRON pursues specific objectives in rare inherited diseases affecting five critical structures of the kidney:
Podocytes (Topic 1)  
Proximal tubule (Topic 2)  
Thick ascending limb (Topic 3)  
Distal convoluted tubule (Topic 4)  
Collecting duct (Topic 5)  
The informations on the natural course and pathophysiology generated from patients cohorts in Topics 1 to 5 will be complemented by the creation of a European Registry and a Network of Genetic Laboratories involved in rare kidney diseases (Topic 6). Management and dissemination (Topic 7) will support all activities within the consortium (see figure).  
The figure below details the 16 rare inherited nephropathies that are investigated, grouped by segment/topic. These diseases are caused by mutations in 20 genes (indicated in italics) that encode proteins involved in a wide range of functions (enzyme, transport, structure, transcription, …).
TOPIC 1: Disorders of the podocyte
WP 1-1 Feto-Maternal Allo-Immune Glomerulopathies (FMAIG)
WP 1-2 Fabry Disease
WP 1-3 Mechanisms of proteinuria and disease progression in genetic diseases of the podocyte
Coordinators: P. Ronco, E.I. Christensen
TOPIC 2: Disorders of the proximal tubule
WP 2-1 Cystinosis
WP 2-2 Imerslund Gräsbeck disease
WP 2-3 Maturity Onset Diabetes of the Young (MODY 3)
WP 2-4 Hereditary Angiopathy with Nephropathy, Aneurism and Cramps (HANAC)
Coordinators: E. Levtchenko, E.I.Christensen
TOPIC 3: Disorders of the thick ascending limb of Henle’s loop
WP 3-1 Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC)
WP 3-2 Familial Juvenile Hyperuricemic Nephropathy (FJHN)
Coordinator: D. Müller
TOPIC 4: Disorders of the distal convoluted tubule
WP 4-1 Gitelman syndrome (GS)
WP 4-2 Pseudohypoaldosteronism type II (PHA2) or Gordon syndrome
Coordinators: O. Devuyst, X. Jeunemaitre
TOPIC 5: Disorders of the collecting duct
WP 5-1 Genetic renal disorders of systemic pH homeostasis
WP 5-2 Genetic renal disorders of systemic water homeostasis
Coordinator: P. Deen
TOPIC 6: Registry and network
WP 6-1 Creation of a European Registry of Rare Nephropathies
WP 6-2 Creation of a European Network of Genetic Laboratories
Coordinators: X. Jeunemaitre, A. Blanchard
TOPIC 7: Management and dissemination
WP 7-1 Management
WP 7-2 Dissemination
Coordinator: O. Devuyst