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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Kocijan, R; Mindler, GT; Hartmann, MA; Kraus, DA; Raimann, A; Zwerina, J.
Dissociation of clinical, laboratory, and bone biopsy findings in adult X-linked hypophosphatemia: a case report.
Wien Med Wochenschr. 2023; 173(13-14): 339-345.
Doi: 10.1007/s10354-022-01000-6
(- Case Report)
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- Co-authors Med Uni Graz
- Kraus Daniel Arian
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Middle Aged - administration & dosage
- Female - administration & dosage
- Humans - administration & dosage
- Adult - administration & dosage
- Familial Hypophosphatemic Rickets - diagnosis
- Phosphates - metabolism
- Bone and Bones - administration & dosage
- Osteomalacia - diagnosis
- Biopsy - administration & dosage
- Fibroblast Growth Factors - administration & dosage
- Find related publications in this database (Keywords)
- X-linked hypophosphatemia
- Bone non-healing
- Transiliac bone biopsy
- Phosphate
- Bone turnover markers