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Bone Abstracts (2019) 7 P79 | DOI: 10.1530/boneabs.7.P79

ICCBH2019 Poster Presentations (1) (226 abstracts)

Novel imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)

Adalbert Raimann 1 , Sarah N Mehany 2 , Patricia Feil 3 , Michael Weber 2 , Andrea Boni-Mikats 2 , Radka Klepochova 4 , Martin Krssak 5 , Peter Pietschmann 7 , Gabriele Haeusler 1 , Johannes Schneider 6 , Kay Raum 6 & Janina Patsch 2

1University Department of Pediatric and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, Vienna, Austria; 2University Department of Biomedical Imaging and Image-guided Therapy, Division of General and Paediatric Radiology, Vienna, Austria; 3University Department of Surgery, Division of Pediatric Surgery, Medical University of Vienna, Vienna, Austria; 4University Department of Biomedical Imaging and Image-guided Therapy, The High Field MR Centre, Vienna, Austria; 5University Department of Medicine III, Division of Endocrinology and Metabolism, Medical University of Vienna, Vienna, Austria; 6Berlin-Brandenburg Center for Regenerative Therapies, Charité - Universitätsmedizin Berlin, Berlin, Germany; 7Institute of Pathophysiology and Allergy Research, Center of Physiology and Pathophysiology, Medical University of Vienna, Vienna, Austria.

Objectives: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. This pilot study aims to apply novel imaging techniques to asses the musculoskeletal phenotype of XLH patients by bidirectional axial transmission (BDAT) ultrasound, magnetic resonance spectroscopy (MRS) and high resolution peripheral quantitative computed tomography (HR-pQCT).

Methods: BDAT bone ultrasound of the radius and tibia was performed in eight XLH patients aged between 4.2 and 20.8 years and compared to thirthy healthy controls aged between 5.8 and 22.8 years. Nine participants opted to participate in additional HR-pQCT scanning and/or MRS.

Results: Bone ultrasound was feasible in patients and controls as young as 4 years of age. The velocity of the first arriving signal (VFAS) in BDAT ultrasound was significantly lower in XLH patients compared to healthy controls: In the radius, mean VFAS of XLH patients and controls was 3553±196 and 3873±143 m/s, respectively (−8.3%; P<0.001). In the tibia, it was 3531±156 and 3757±119 m/s, respectively (−6.0%; P=0.019). HR-pQCT showed a higher trabecular thickness in XLH patients (+16.7%; P=0.021). By MRS, we found a reduction of intramyocellular lipids in the soleus muscle in XLH patients (−35.4%; P=0.038).

Conclusion: BDAT bone ultrasound revealed significant differences in cortical bone quality of young XLH patients as compared to controls. Regular monitoring of XLH patients by a radiation-free technology such as BDAT might provide valuable information on bone quality and contribute to the optimization of treatment. Further studies are needed to establish this affordable and time efficient method in the XLH patient cohort.

Disclosure: The authors declared no competing interests.

Volume 7

9th International Conference on Children's Bone Health


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