Institution |
Paris, Necker-Enfants Malades University Hospital |
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Center |
Nephrology unit, Reference centers for Inherited Renal Diseases and for Nephrotic Syndrome | ||||||||||||||||||||||||||||
Description |
The pediatric nephrology and the adult nephrology departments in Necker-Enfants malades Universitary Hospital offer global multidisciplinary care of patients affected with rare renal diseases from the prenatal period to the elderly. Necker-Enfants malades hospital is the largest hospital for care of children affected with rare diseases in France. Our multidisciplinary team offers full medical and psychosocial services, with a 24h a day service. We have taken care of more than 4000 patients affected with acute and chronic rare renal diseases last year, with more than 1000 hospitalization and 3000 out patients visits because of a rare renal disease. We are performing renal replacement therapy, (with more than 2000 sessions of pediatric hemodialysis last year, several children treated with peritoneal dialysis) and immunoadsorptions (450 a year in the pediatric nephrology department), and perform 15 to 20 pediatric and 200 adult renal transplantations (as well as some liver-renal transplantations) per year. In addition to the close interactions between our two groups, we work in collaboration with colleagues from the department of Pediatric Urology and Pediatric Transplantation, from the department of Obstetric and Fetal Medicine, from the department of Clinical and Molecular Genetics, from the department of Pathology and other specialized laboratories, as well as from all other Pediatric specialities (Cardiology, Pneumology, Neurology, Metabolic Diseases, Radiology and Interventional Imagery). We have an important activity in Genetics of renal diseases, in genetic counseling and molecular pre- and postnatal testing. In collaboration with the department of Genetics we have developed NGS approaches for molecular diagnosis of many rare renal monogenic diseases. We are National Reference Center for Inherited Renal Diseases and for Nephrotic Syndrome, and belong to the national ORKID (ORphan Kidney Diseases) network. Our expertise lies on a long lasting history of basic and clinical research in Genetics, Pediatric and adult Nephrology, and renal tranplantation. The establishment and study of several cohorts of well phenotyped children with rare renal diseases allowed the identification, in Antignac's research group, of several genes involved in inherited renal diseases (podocytopathies, cystinosis, ciliopathies, CAKUT, tubular renal dysgenesis), and the work of Terzi's group has resulted in important progress in the understanding of chronic kidney disease progression. Several scientific research programs are still developed in these two laboratories in Necker-Enfants malades Universitary hospital. Discoveries from the research laboratories are rapidly transferred to the benefit of the patients and families. We also have set up several databases, either at the local or at the national level. We are working in close collaboration with the patients’ associations, have developed several tools to inform and provide education programs to patients and families, and to train colleagues on the rare renal diseases. |
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Team |
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Disease expertise |
» Hereditary glomerulopathies » Immune glomerulopathies » Tubulopathies » Metabolic & stone disorders » Thrombotic microangiopathies » AD structural kidney disorders |
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Contact |
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Homepage |
» Nephrology unit, Reference centers for Inherited Renal Diseases and for Nephrotic Syndrome |