| 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. |
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| EUNEFRON pursues specific objectives
in rare inherited diseases affecting five critical
structures of the kidney: |
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Podocytes (Topic 1) |
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Proximal tubule (Topic 2) |
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Thick ascending limb (Topic 3) |
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Distal convoluted tubule (Topic 4) |
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Collecting duct (Topic 5) |
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| 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). |
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| 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, …). |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| TOPIC 7: Management and dissemination |
WP 7-1 Management
WP 7-2 Dissemination |
| Coordinator: O. Devuyst |
