Zusammenfassung
Der hereditäre primäre Hyperparathyreoidismus (pHPT) macht ca. 5–10 % aller pHPT Fälle aus und ist charakterisiert durch eine asymmetrische Vier-Drüsen-Hyperplasie. Im Vergleich zum sporadischen pHPT ist das Manifestationsalter deutlich jünger. Die Herausforderung im klinischen Alltag besteht darin, diese erblichen Formen zu identifizieren, da die Diagnose des hereditären pHPTs Einfluss auf die operative Strategie hat. Zudem entwickeln die betroffenen Patienten häufig weitere endokrine Erkrankungen. Zu den hereditären Formen des pHPT zählen die Multiple endokrine Neoplasien Typ 1 (MEN1), Typ 2A (MEN2A) und Typ 4 (MEN4), das Hyperparathyreoidismus-Kiefertumor-Syndrom (engl. Hyperparathyroidism Jaw-tumor, HPT-JT), die familiäre hypocalciurische Hypercalcämie (FHH), der neonatale primäre schwere Hyperparathyreoidismus (NSHPT), sowie der isolierter familiärer Hyperparathyreoidismus (FIHPT). Die meisten hereditären pHPT-Formen lassen sich durch den Nachweis eines entsprechenden Gendefektes zuordnen. Die Diagnose wird laborchemisch (erhöhtes Serumcalcium und Parathormon) sowie klinisch gesichert. Die operative Therapie hat zum Ziel, Hypercalcämie-bedingte Langzeitfolgen sowie Persistenzen und Rezidive zu vermeiden und sollte der hereditären Form Rechnung tragen. Daher umfasst das Spektrum der operativen Therapie je nach hereditärer Form die fokussierte Nebenschilddrüsenresektion bis hin zur totalen Parathyreoidektomie mit Autotransplantation. Patienten mit einem hereditärem pHPT bedürfen einer lebenslangen regelmäßigen Nachsorge.
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© 2023 Der/die Autor(en), exklusiv lizenziert an Springer-Verlag GmbH, DE, ein Teil von Springer Nature
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Manoharan, J., Bartsch, D.K. (2023). Hereditärer primärer Hyperparathyreoidismus. In: Bartsch, D.K., Holzer, K. (eds) Endokrine Chirurgie. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-63317-5_25
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