Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p17 | (1) | ICCBH2015

MRI features as surrogate markers of X-linked hypophosphatemic rickets activity

Lempicki Marta , Rothenbuhler Anya , Merzoug Valerie , Franchi-Abella Stephanie , Chaussain Catherine , Linglart Agnes , Adamsbaum Catherine

Background and objectives: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. The treatment of rickets is monitored via laboratory tests such as alkaline phosphatase (ALP), clinical features, and plain X-rays. The objectives of this study were to describe the MRI features in XLH and to look for correlations between those features and XLH activity.Study design: Twenty-seven patients (younger than 18 years with XLH due ...

ba0006p087 | (1) | ICCBH2017

Cranial synostosis and Chiari 1 malformation in X-linked hypophosphatemic rickets

Rothenbuhler Anya , Bacchetta Justine , Debza Yahya , Lambert Anne-Sophie , Merzoug Valerie , Linglart Agnes , Adamsbaum Catherine , Di Rocco Federico

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...

ba0007p51 | (1) | ICCBH2019

Higher dose of burosumab is needed for treatment of children with severe forms of X-linked hypophosphatemia

Zhukouskaya Volha V , Audrain Christelle , Lambert Anne-Sophie , Colao Annamaria , Kamenicky Peter , Adamsbaum Catherine , Nevoux Jerome , Chaussain Catherine , Wicart Philippe , Briot Karine , Di Rocco Federico , Trabado Severine , Prie Dominique , Rothenbuhler Anya , Linglart Agnes

Background and aim: Burosumab is a monoclonal antibody against anti-FGF23, which has been recently approved for treatment of X-linked hypophosphatemia (XLH). Beyond clinical trials, little is known about its efficacy/safety in clinical practice which is the aim of study.Patients/Methods: 39 children with XLH were switched from conventional therapy to burosumab (starting dose 0.4 mg/kg), because of following indications: non-responder to conventional ther...