Primäre Ziliendyskinesie (PCD) – interdisziplinäre Diagnostik und Therapie

Abstract

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease. First respiratory symptoms already occur within the first hours after birth. Major symptoms are an unexplained neonatal respiratory distress syndrome, situs inversus, persistant cough, and chronic nasal congestion, recurrent paranasal sinus disorders with or without polyps, bronchiectasis as well as male infertility. Diagnostics is complex and includes transmission electron microscopy, nasal NO assessment, high-speed video microscopy and genetic evaluations. This review gives an overview over the current diagnostic procedures and therapeutic options. The management of PCD is a multidisciplinary approach, which should be reserved to in highly specialized centers.

Die primäre Ziliendyskinesie gehört zu den seltenen Erkrankungen. Leitsymptome sind das Neonatal Respiratory Distress Syndrome, Situs inversus, rezidivierende Otitis media, chronischer Husten und chronische Rhinitis bzw. Rhinosinusitis. Eine frühzeitige Diagnosestellung ist entscheidend für eine adäquate Therapieeinleitung. Dieser Beitrag berichtet über aktuelle diagnostische Verfahren und die interdisziplinäre Therapie.

Schlüsselwörter

primäre Ziliendyskinesie - PCD - Genetik - Ultrastruktur - Elektronenmikroskopie - Therapie

Key words

primary ciliary dyskinesia - PCD - genetics - ultrastructure - electronmicroscopy - therapy

Publikationsverlauf

Artikel online veröffentlicht:
08. Mai 2020

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