Operative Korrektur der Beinachse bei X-chromosomaler Hypophosphatämie

Zusammenfassung

Die X-chromosomale Hypophosphatämie (XLH, OMIM 307800) ist eine seltene Knochenerkrankung, die durch Mutationen in PHEX (PHEX phosphate regulating endopeptidase X-linked) verursacht wird. Rachitis, Osteomalazie, Kleinwuchs und komplexe Beindeformitäten gehören zu den wichtigsten skelettalen Veränderungen dieser Erkrankung. Die konservative Therapie mit Phosphatsalzen oder FGF23-hemmenden Antikörpern kann Beschwerden nachweislich verbessern. Dennoch zeigen rezente Studien eindrücklich das Ausmaß der Krankheitstypischen Gangveränderungen, Beindeformitäten und damit einhergehenden Verminderung der Lebensqualität. Ein bedeutendes orthopädisches Behandlungsziel an der unteren Extremität ist der Erhalt bzw. die Herstellung physiologischer Beinachsenstellung. Dieser Artikel fasst die orthopädische Therapie von Beindeformitäten bei Kindern und Erwachsenen mit XLH in einem multidisziplinären Setting zusammen.

Abstract

X-linked hypophosphatemia (XLH, OMIM # 307800) is a rare disorder of bone metabolism caused by loss-of-function of phosphate-regulating gene with homology to endopeptidases on the X chromosome (PHEX). A dysregulation of the main regulator of fibroblast growth factor 23 (FGF23) leads to chronic renal phosphate loss and to associated skeletal changes: rickets, osteomalacia, short stature and complex leg deformities. Conservative therapies such as treatment with phosphate salts or FGF23-inhibiting antibodies can improve the symptoms. However, recent studies showed disease-specific gait deviations, lower limb deformities and high burden of disease of children and adults with XLH. Therefore, physiological lower limb alignment needs to be the main treatment focus for orthopedic surgeons. This article describes the orthopedic treatment of lower limb deformities in children and adults in a multidisciplinary treatment setting.

Schlüsselwörter

XLH - Phosphatdiabetes - Beindeformität - Wachstumslenkung

Key words

XLH - deformity - guided growth - deformity correction

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