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Rare diseases of calcium and phosphate metabolism

The Norman site of the reference center for rare diseases of calcium and phosphate metabolism , labeled since 2007 and became dual-site since 2017 (CHU 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 is made up of four clinical sites (Paris, Lyon, Rouen and Toulouse ), a dental expertise site (Paris Bretonneau) and two molecular and genetic diagnosis sites (Bicêtre-Paris Sud and Caen) . It is part of the OSCAR rare diseases sector (Bone, calcium and cartilage) .

In Normandy, the 2 centers are multi-disciplinary and treat children and adults with abnormalities in the regulation of serum calcium ( hyper or hypocalcemia, hyper or hypoparathyroidism, etc.) and/or phosphatemia (hypophosphatemic rickets , tumoral calcinosis, etc.) . They benefit from the expertise of endocrinologists, nephrologists, rheumatologists, geneticists, orthopedic surgeons, neurosurgeons, dentists, periodontists, etc.

  • Crew

  • Our missions

    Improve local care
    • by identifying the hospital correspondents
    • by organizing the city-hospital care sector
    • by training and informing non-specialist health professionals (general practitioners, etc.)
    Participate in the advancement of scientific work on the disease
    • by creating databases
    • by initiating research projects and collaborating with medical research teams at national and international level
    • by working in close collaboration with patients and patient associations
    Provide the patient and his family with optimal care
    • improving access to diagnosis
    • by informing and training patients and their families
    • by developing a guide on the treatment to be followed
  • Pathologies

    Pathologies of bone metabolism
    • 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 pathologies
    • Rickets, hypersensitivity, genetic abnormalities of vitamin D metabolism.
    Parathyroid hormone pathologies
    • Hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, progressive osseous heteroplasia, hyperparathyroidism, calcium receptor abnormality.