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Génétique de l'hypercalciurie liée à l'ostéoporose

English title Genetics of hypercalciuria-related osteoporosis
Applicant Bonny Olivier
Number 104538
Funding scheme NRP 53 Musculoskeletal Health - Chronic Pain
Research institution Respiratory Medicine Department Universitätsklinik Inselspital
Institution of higher education University of Berne - BE
Main discipline Diseases of Bones and Joints
Start/End 01.08.2004 - 30.06.2008
Approved amount 218'358.00
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All Disciplines (3)

Discipline
Diseases of Bones and Joints
Internal Medicine
Genetics

Keywords (3)

Genetic-Hypercalciuria-Renal ; stone-Osteoporosis-Bone; mineral density

Lay Summary (English)

Lead
Lay summary
Osteoporosis and genetics of chronic high urinary calcium excretion

Background
Osteoporosis is a debilitating disease leading to increased risk of fracture and subsequent complications, including chronic pain and increased morbidity. Environmental and genetic factors are relevant for this complex disease. Chronic high urinary calcium excretion, called hypercalciuria, is found in up to 38% of osteoporotic patients, is related to renal stone formation and has a strong genetic background. In addition, more than 50% of patients with recurrent renal calcium stone exhibit hypercalciuria and a reduced bone mass. Hypercalciuria results from several entities, further defined as
• absorptive hypercalciuria, resulting from hyper-absorption of calcium from the small intestine
• resorptive hypercalciuria, resulting from bone resorption and
• renal leak, resulting from renal defects causing calcium leak.
We hypothesise now that a substantial number of patients with recurrent calcium renal stone have a genetic defect accounting for a renal leak of calcium which in turn conduct to chronic negative bone balance and osteoporosis.

Aim
We propose to recruit hypercalciuric osteoporotic Swiss stone formers in order to identify new genetic determinants relevant for musculoskeletal health. We shall conduct an outpatient fasting and calcium load test to refine the type of hypercalciuria in these patients. For the genetic analyses, identically characterised subjects from Dallas, USA, will supplement our group of patients.

Significance
Defining the molecular mechanisms of hypercalciuria and its genetic defects that cause negative calcium balance and osteoporosis will allow to design rational behavioural and pharmacological strategies to prevent osteoporosis and renal stones. Hypercalciuric patients with known reduced bone mass and those with untreated hypercalciuria should have periodic bone density measurements. For calcium renal stone formers at risk for osteoporosis, tailored preventive measures in order to reduce the risk of a bone mass decrease might ultimately be derived from the present investigation.
Direct link to Lay Summary Last update: 21.02.2013

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