Rare diseases of calcium and phosphate metabolism
The Normandy site of the reference center for rare diseases of calcium and phosphate metabolism , certified since 2007 and which became a bi-site since 2017 (University Hospital of Rouen and Caen) brings together care activities (clinical, radiological and biological) and research activities.
Nationally, this center is coordinated by Professor Agnès Linglart (pediatric endocrinologist) at Bicêtre Hospital. It comprises four clinical sites (Paris, Lyon, Rouen, and Toulouse ), a dental expertise center (Paris Bretonneau) , and two molecular and genetic diagnostic centers (Bicêtre-Paris Sud and Caen) . It is part of the OSCAR (Bone, Calcium, and Cartilage) rare disease network .
In Normandy, the two centers are multidisciplinary and treat children and adults with abnormalities in the regulation of blood calcium (hyper- or hypocalcemia, hyper- or hypoparathyroidism, etc.) and/or blood phosphate (hypophosphatemic rickets, tumoral calcinosis, etc.) . They benefit from the expertise of endocrinologists, nephrologists, rheumatologists, geneticists, orthopedic surgeons, neurosurgeons, dentists, periodontists, and other specialists.
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Crew
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University Lecturer, Hospital PractitionerMolecular genetics & cytogenetics
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Hospital PractitionerEndocrinologist Pediatrician
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Hospital PractitionerPediatric orthopedic and trauma surgery
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Hospital PractitionerPediatrician
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Hospital Practitioner
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University Lecturer · Hospital PractitionerMolecular genetics
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Hospital practitionerMolecular genetics
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Hospital practitionerneonatologist pediatrician
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Associate Professor Hospital Practitionerneonatologist pediatrician
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Hospital practitionerNephrologist
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Hospital practitioner
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Head of Clinic for Universities · Assistant for HospitalsPediatric Nephrology
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Hospital PractitionerRadiologist
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Our missions
Improving local care- by identifying hospital correspondents
- by organizing the city-hospital care pathway
- by training and informing non-specialist healthcare professionals (general practitioners, etc.)
To participate in the advancement of scientific work on the disease- by creating databases
- by initiating research projects and collaborating with medical research teams at the national and international level
- by working closely with patients and patient associations
Ensuring optimal care for the patient and their loved ones- by improving access to diagnosis
- by informing and training patients and their families
- by developing a guide on the treatment to follow
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Pathologies
Bone metabolism disorders- Hypophosphatasia , primary and secondary bone fragility in children.
Pathologies with hypophosphatemia- Hypophosphatemic rickets , phosphate diabetes and osteomalacia, hereditary hypophosphatemia, renal phosphate loss, tumor-induced osteomalacia, hypophosphatemias associated with fibrous dysplasia.
- Tumor calcinosis.
Vitamin D disorders- Rickets, hypersensitivity, genetic abnormalities of vitamin D metabolism.
Parathyroid hormone disorders- Hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, progressive skeletal heteroplasia, hyperparathyroidism, calcium receptor abnormality.