dc.contributor.author
Rainmann, Adalbert
dc.contributor.author
Mehany, Sarah N.
dc.contributor.author
Feil, Patricia
dc.contributor.author
Weber, Michael
dc.contributor.author
Pietschmann, Peter
dc.contributor.author
Boni-Mikats, Andrea
dc.contributor.author
Klepochova, Radka
dc.contributor.author
Krššák, Martin
dc.contributor.author
Häusler, Gabriele
dc.contributor.author
Schneider, Johannes
dc.contributor.author
Patsch, Janina M.
dc.contributor.author
Raum, Kay
dc.date.accessioned
2020-07-16T14:02:24Z
dc.date.available
2020-07-16T14:02:24Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/27792
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-27545
dc.description.abstract
Objectives: To assess the diagnostic potential of bidirectional axial transmission (BDAT) ultrasound, and high-resolution peripheral quantitative computed tomography (HR-pQCT) in X-linked hypophosphatemia (XLH, OMIM #307800), a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene.
Methods: BDAT bone ultrasound was performed at the non-dominant distal radius (33% relative to distal head) and the central left tibia (50%) in eight XLH patients aged between 4.2 and 20.8 years and compared to twenty-nine healthy controls aged between 5.8 and 22.4 years. In eighteen controls, only radius measurements were performed. Four patients and four controls opted to participate in HR-pQCT scanning of the ultradistal radius and tibia.
Results: Bone ultrasound was feasible in patients and controls as young as 4 years of age. The velocity of the first arriving signal (νFAS) in BDAT ultrasound was significantly lower in XLH patients compared to healthy controls: In the radius, mean νFAS of XLH patients and controls was 3599 ± 106 and 3866 ± 142 m/s, respectively (-6.9%; p < 0.001). In the tibia, it was 3578 ± 129 and 3762 ± 124 m/s, respectively (-4.9%; p = 0.006). HR-pQCT showed a higher trabecular thickness in the tibia of XLH patients (+16.7%; p = 0.021).
Conclusions: Quantitative 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 patients.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
axial transmission
en
dc.subject
rare disease
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic Rickets (XLH)
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.articlenumber
355
dcterms.bibliographicCitation.doi
10.3389/fendo.2020.00355
dcterms.bibliographicCitation.journaltitle
Frontiers in Endocrinology
dcterms.bibliographicCitation.originalpublishername
Frontiers Media S.A.
dcterms.bibliographicCitation.volume
11
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
32582030
dcterms.isPartOf.eissn
1664-2392