Neue therapeutische Ansätze bei seltenen Skeletterkrankungen im Kindesalter

Zusammenfassung

Die Diagnose und Therapie seltener Erkrankungen im Kindes- und Jugendalter nimmt zunehmend einen großen Stellenwert in der pädiatrischen Praxis ein. Die hohe Anzahl seltener Erkrankungen mit jeweils nur einzelnen Betroffenen stellt eine besondere Herausforderung an die alltäglichen Versorgungsstrukturen dar. Durch die detaillierte Entschlüsselung der jeweiligen genetischen und pathophysiologischen Grundlage vieler der monogenetisch bedingten seltenen Erkrankungen ist es jedoch in den letzten Jahren gelungen, gezielte Therapieansätze zu entwickeln, welche derzeit in der klinischen Erprobung sind. Aktuell werden Studien im Kindes- und Jugendalter bei Patienten mit Achondroplasie, Osteogenesis imperfecta, Hypophosphatasie, hypophosphatämischer Rachitis und Fibrodysplasia ossificans progressiva durchgeführt. Die zugrunde liegenden genetischen Veränderungen, deren pathophysiologische Auswirkungen bis hin zum translationalen Therapieansatz werden in dieser Übersichtsarbeit schematisch dargestellt.

Summary

Rare diseases are an upcoming issue for pediatricians caring for children in different facilities – from primary care to specialized university hospital units. A high number of rare diseases affecting each only a few patients pose a challenge to the physicians and structures of the health care system. The identification of the underlying genetic cause and pathophysiologic correlate led to new translational therapeutic approaches in children and adolescents with rare skeletal diseases. Clinical trials are performed currently in children with achondroplasia, osteogenesis imperfecta, hypophosphatasia, hypophosphatemic rickets and fibrodysplasia ossificans progressiva. Genetic causes, pathophysiologic changes and translational therapeutic approaches are presented within this review for the 5 rare skeletal diseases mentioned above.

Schlüsselwörter

Seltene Skeletterkrankungen - Osteogenesis imperfecta - translationale Therapie - Mineralisierungsstörung

Keywords

Rare skeletal disease - osteogenesis imperfecta - translational therapy - mineralization defect

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