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25.01.2023 | case report

Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a case report

verfasst von: Assoc.-Prof. PD Dr. Roland Kocijan, Gabriel Tilmann Mindler, Markus Alexander Hartmann, Danial Arian Kraus, Adalbert Raimann, Jochen Zwerina

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 13-14/2023

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Summary

X‑linked hypophosphatemia (XLH) is a phosphate wasting disorder. Typical serum constellations include low serum phosphate as well as high alkaline phosphatase (ALP) and fibroblast growth factor 23 (FGF-23 ) levels. Adult XLH patients usually suffer from (pseudo)fractures, enthesopathies, impaired mobility, and osteoarthritis. We report the case of a middle-aged woman with clinically mild disease, relatively balanced laboratory values, but bone non-healing of the femur post-surgery. Transiliac bone biopsy revealed pronounced osteomalacia and severe deterioration of bone microstructure. Due to the lack of XLH-typical symptoms, the patient was not substituted with calcitriol and phosphate in adulthood. Thus, laboratory findings and radiological examinations do not necessarily reflect bone metabolism in XLH. Bone biopsies should be considered in unclear cases or prior to surgery in adults with XLH.
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Metadaten
Titel
Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a case report
verfasst von
Assoc.-Prof. PD Dr. Roland Kocijan
Gabriel Tilmann Mindler
Markus Alexander Hartmann
Danial Arian Kraus
Adalbert Raimann
Jochen Zwerina
Publikationsdatum
25.01.2023
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 13-14/2023
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-022-01000-6

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