Description |
The Hôpital Européen Georges Pompidou (HEGP) is known for its expertise in treating adults with cardiovascular and renal conditions. The activity around Renal Tubulopathies at the HEGP is part of the MARHEA national reference centre; we ensure the diagnosis, optimal care and follow-up of patients with hereditary and acquired renal tubulopathies thanks to a multidisciplinary team with the following activities: (1) day hospital for renal and metabolic functional explorations for adults, which is part of the Physiology Department; (2) Outpatient consultations: adult nephrology and adult/paediatric genetic consultation and (3) the unit of molecular genetics of hereditary tubulopathies. We have a strong interaction with local (Departments of Nephrology and Hypertension) and external clinical services (Rheumatology, Endocrinology, Otorhinolaryngology, Dentistry, etc) to structure the multidisciplinary care of patients with extra renal manifestations. We are the national reference centre with recognised expertise in the clinical and molecular study of hereditary tubulopathies and monogenic hypertension. The activity of molecular genetics has the label of "Medical Biology Reference Laboratory" from the French Health Ministry. These activities have allowed our centre to gather and analyse clinical and biological information from patient files from all over the country and to better understand the natural history and the different clinical presentations of hereditary tubulopathies and to develop clinical and research projects for several tubulopathies. We have coordinated the official national care protocols (PNDS) published by the Ministry of Health for Bartter syndrome and Gitelman syndrome.
Finally, we work in close collaboration with the Clinical Investigation Center (CIC), which has enabled us to develop multicentric clinical trials. The CIC at HEGP supports over 30 studies in all fields and can serve as a platform for academic and industrial studies within ERKNet research activities. Two of the physicians involved in our activity are also INSERM team leaders: Dr Maria-Christina Zennaro is director of team 12 "Genetic mechanisms of aldosterone related disorders-towards integrative precision medicine" at PARCC (INSERM_U970) and Pr Pascal Houillier, is co-leader of the «renal physiology and tubulopathies» laboratory at the Cordeliers research centre (INSERM UMR_S1138), which allows us to study in depth the pathophysiological mechanisms of these rare diseases. |
