Praxisrelevante Aspekte zur biochemischen und molekulargenetischen Diagnostik bei seltenen Knochenerkrankungen – vom Netzwerk Seltene Osteopathien (NetsOs*)

Zusammenfassung

Seltene hereditäre Skeletterkrankungen können zu einer abnormen Länge, Stärke oder Form der Knochen führen. Basierend auf dem klinischen und radiologischen Phänotyp und dem Genotyp wird diese Erkrankungsgruppe in mehr als 500 verschiedene und sehr heterogene Erkrankungen unterteilt. Eine schnelle und präzise Diagnosestellung ist für die Patientenversorgung dringend erforderlich und beruht auf der Kombination von klinischen, biochemischen, radiologischen und genetischen Analysen. Neue und verbesserte genetische Testverfahren haben die Diagnostik revolutioniert und spielen eine große Rolle in der Beratung von Patienten und Familien. Um die optimale Versorgung dieser Patienten zu ermöglichen, wird ein krankheitsspezifisches Langzeitmanagement in einem multidisziplinären Team in hochspezialisierten Zentren empfohlen. Dieser Artikel gibt einen praxisrelevanten Überblick über die biochemischen Analysen bei Kindern und Erwachsenen und ihre Anwendung in Verbindung mit humangenetischen Tests zur Identifizierung, Charakterisierung und Verlaufsbewertung dieser seltenen Skeletterkrankungen.

Abstract

Rare inherited skeletal disorders can result in abnormal bone length, density or shape. Based on the clinical, radiological and genetic phenotype, this group of disorders comprises more than 500 different and highly heterogeneous entities. Rapid and precise diagnoses are urgently needed for patient care and are based on the combination of clinical, biochemical, radiological and genetic analysis. Novel genetic techniques have revolutionized diagnostics and have a huge impact on counseling of patients and families. Disease-specific long-term management in a multidisciplinary healthcare team in highly specialized centers is recommended to optimize care for these patients. This article provides a practice-relevant overview on biochemical analyses in childhood and adults and its implementation jointly with human genetic testing to identify, characterize and assess the course of these rare skeletal diseases.

Schlüsselwörter

Seltene Skeletterkrankung - XLH - HPP - Labordiagnostik - Genetik

Key words

Rare Disease - XLH - HPP

Publikationsverlauf

Eingereicht: 22. August 2023

Angenommen: 13. September 2023

Artikel online veröffentlicht:
04. Dezember 2023

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