Zusammenfassung
Mukopolysaccharidosen sind seltene Erkrankungen, die den katabolen, lysosomalen Stoffwechsel betreffen. Diese heriditären Erkrankungen bewirken eine progrediente Schädigung von Zellen, Geweben und Organen mit einem großen Spektrum an Phänotypen. Um irreversible Schäden zu vermeiden, ist eine frühzeitige Diagnosestellung anhand von typischen Leitsymptomen und Symptomkomplexen anzustreben. Frühe radiologische Zeichen sind der Gibbus am thorakolumbalen Übergang, verkürzte und verplumpte Metakarpalia, azetabuläre Dysplasie, ruderblattförmige Rippen und multiforme Wirbelkörper. Es findet sich eine typische Beckenkonfiguration, die meist im Kindesalter zur Ausbildung einer Hüftluxation führt. Häufig tritt ein beidseitiges Karpaltunnelsyndrom auf. Als systemische Therapie steht die Stammzelltransplantation und Enzymersatztherapie zur Verfügung. Orthopädische Behandlungen stellen meist Individualentscheidungen dar.
Abstract
Mucopolysaccharidoses are a family of metabolic disorders characterized by a deficiency in the catabolic lysosomal pathways. They are rare, inherited diseases which lead to progressive cellular, tissue and organ damage across a broad spectrum of phenotypes. To prevent irreversible damage early diagnosis is essential. Typical signs and symptoms are the thoracolumbar gibbus, shortened and plumped metacarpal bones, hip dysplasia, deformed ribs and ovoid vertebral bodies. Due to the typical deformation of the pelvis hip dislocation occurs often in childhood. Bilateral carpal tunnel syndrome is frequent. Bone marrow transplantation and enzyme replacement therapy are available. Orthopaedic interventions are based on individual therapeutic decisions and indications.
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Der korrespondierende Autor weist auf folgende Beziehungen hin: Die Autorin Dr. Bianca Link war als Referentin für die Firmen Genzyme, Biomarin und Shire tätig. Ihre wissenschaftliche Tätigkeit an der Universitätsklinik Mainz ist durch diese Firmen Drittmittel finanziert. Trotz des möglichen Interessenkonflikts ist der Beitrag unabhängig und produktneutral.
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Link, B., Miebach, E., Vetter, T. et al. Mukopolysaccharidosen. Orthopäde 37, 24–30 (2008). https://doi.org/10.1007/s00132-007-1178-0
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DOI: https://doi.org/10.1007/s00132-007-1178-0