Bone Abstracts

The vision of calcium/phosphate metabolism has been completely modified during the last decade with the description of the FGF23/Klotho regulation axis. Renal regulation of phosphate handling in the proximal tubule is a complex and highly-regulated process. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1), NAPI-IIc (SLC34A3) and PIT-2 (SLC20A2). These transporters are highly regulated by various cellular mechanisms and fact...

Biographical DetailsJustine BacchettaJustine Bacchetta (MD 2009, PhD 2011) is an Associate Professor of Pediatrics in Lyon, France. She is specialized in pediatric nephrology and pediatric diseases of calcium and phosphate metabolism. After a research fellowship at UCLA (Los Angeles, USA), she has four main research topics of interest: bone and mine...

Background: Pediatric hypoparathyroidism is an orphan disease. Conventional management combines native and active vitamin D, calcium supplementation and sometimes phosphate binders. The use of teriparatide has been reported both in adults (daily or bi-daily subcutaneous infusions) and in children (rather continuous subcutaneous infusion) as second-line therapy.Methods: We present as median (min-max) the results of a retrospective single-centre review of ...

Background: Bone fragility and vascular calcifications are to the two main morbidities of the mineral and bone disorders associated with chronic kidney disease (CKD), resulting from a combination of abnormalities such as impaired GH axis, vitamin D deficiency, hyperparathyroidism, increased FGF23 levels, hypogonadism, denutrition and drug toxicity.Methods: In a single-centre ancillary study of the longitudinal prospective European 4C study (Cardiovascula...

Background: While the relationship between visceral (VFAT) and subcutaneous (SFAT) fat mass with cardiometabolic risk has been demonstrated in adults, fat mass evolution during teenagehood remains poorly explored and usually assessed with irradiative (CT) or expensive (MRI) techniques. Our aim was to evaluate a novel technique derived from DXA to assess VFAT and SFAT in healthy teenagers.Subjects and methods: Healthy teenagers from the VITADOS study unde...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. Data from adult ADPKD population show increased fibroblast growth factor 23 (FGF23) levels while circulating Klotho levels decrease, with a low TmP/GFR even in patients with normal renal function. Moreover, in ADPKD animal models, cyst lining renal cells were demonstrated to produce FGF23, although the animals displayed FGF23 resistance. No data are available in a paediatr...

Background: X-linked hypophosphatemic rickets (XLHR) represents the most common form of hypophosphatemia.Aim: The aim of this prospective study was to describe and analyze the incidence of cranial and cervico-occipital junction (COJ) anomalies in a series of children with XLHR.Patients and methods: Seventeen children (13 girls, 4 boys, mean age 7.3 years) followed for XLHR at the French national reference center for rare diseases o...