Management der Primären Ciliären Dyskinesie

J. Raidt; J. Brillault; F. Brinkmann; A. Jung; C. Koerner-Rettberg; A. Koitschev; H. Linz-Keul; T. Nüßlein; F. C. Ringshausen; J. Röhmel; M. Rosewich; C. Werner; H. Omran

doi:10.1055/a-1235-1520

Pneumologie, Inhaltsverzeichnis

CC BY-NC-ND 4.0 · Pneumologie 2020; 74(11): 750-765
DOI: 10.1055/a-1235-1520

Übersicht

Management der Primären Ciliären Dyskinesie

Management of Primary Ciliary Dyskinesia

Autoren

J. Raidt

¹Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster
J. Brillault

²Kartagener Syndrom & Primäre Ciliäre Dyskinesie e. V., Herbolzheim
F. Brinkmann

³Pädiatrische Pneumologie und CF-Centrum, Universitätsklinik für Kinder- und Jugendmedizin Bochum, Bochum
A. Jung

⁴Abteilung für Pneumologie, Universitäts-Kinderspital Zürich, Zürich, Schweiz
C. Koerner-Rettberg

⁵Klinik für Kinder- und Jugendmedizin, Marien-Hospital Wesel, Wesel
A. Koitschev

⁶Abteilung Pädiatrische HNO-Heilkunde und Otologie, Olgahospital, Klinikum Stuttgart, Stuttgart
H. Linz-Keul

⁷Physiotherapiepraxis, Bad Kissingen
T. Nüßlein

⁸Klinik für Kinder- und Jugendmedizin Koblenz, Gemeinschaftsklinikum Mittelrhein, Koblenz
F. C. Ringshausen

⁹Klinik für Pneumologie, Medizinische Hochschule Hannover (MHH), Biomedical Research in End-stage and Obstructive Lung Disease Hannover (BREATH), Deutsches Zentrum für Lungenforschung (DZL), Hannover
J. Röhmel

¹⁰Klinik für Pädiatrie mit Schwerpunkt Pneumologie, Immunologie und Intensivmedizin, Charité – Universitätsmedizin Berlin, Berlin
M. Rosewich

¹¹Kinderarztpraxis, Oberursel,
C. Werner

¹²Kinder- und Jugendmedizin, Helios Kliniken Schwerin, Schwerin
H. Omran

¹Klinik für Kinder- und Jugendmedizin, Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster

Abstract

Zusammenfassung

Die Primäre Ciliäre Dyskinesie (PCD, MIM 242650) ist eine seltene hereditäre Multisystemerkrankung mit klinisch heterogenem Phänotyp. Leitsymptom ist eine chronische Sekretretention der oberen und unteren Atemwege, welche durch die Dysfunktion motiler respiratorischer Zilien entsteht. In der Folge kommt es zur Ausbildung von Bronchiektasen, häufig zu einer Infektion durch Pseudomonas aeruginosa sowie einer abnehmenden Lungenfunktion bis hin zum Lungenversagen.

Bislang gibt es kaum evidenzbasierte Therapieempfehlungen, da randomisierte Langzeitstudien zur Behandlung der PCD fehlten. In diesem Jahr wurden die Daten einer ersten placebokontrollierten Medikamentenstudie bei PCD veröffentlicht. Anlässlich dieses Meilensteins im Management der PCD wurde der vorliegende Übersichtsartikel als Konsens von Patientenvertretern sowie Klinikern, die langjährige Erfahrung in der Behandlung der PCD haben, verfasst. Diese Arbeit bietet eine Zusammenfassung aktuell eingesetzter Behandlungsverfahren, die überwiegend auf persönlichen Erfahrungen und Expertenmeinungen beruhen oder von anderen Atemwegserkrankungen wie der Cystischen Fibrose (CF), COPD oder Bronchiektasen-Erkrankung abgeleitet werden. Da es derzeit keine kurative Therapie für PCD gibt, stehen symptomatische Maßnahmen wie die regelmäßige Reinigung der Atemwege und die Behandlung von rezidivierenden Atemwegsinfektionen im Fokus. Nicht respiratorische Manifestationen werden organspezifisch behandelt. Um neben der ersten Medikamentenstudie mehr evidenzbasiertes Wissen zu generieren, werden weitere Projekte etabliert, u. a. ein internationales PCD-Register. Hierüber wird Patienten der Zugang zu klinischen und wissenschaftlichen Studien erleichtert und die Vernetzung behandelnder Zentren gefördert. Des Weiteren können Erkenntnisse über eine Genotyp-spezifische Erkrankungsschwere erlangt werden, um folglich die therapeutische Versorgung der Patienten zu verbessern und somit zu individualisieren.

Abstract

Primary Ciliary Dyskinesia (PCD, MIM 242650) is a rare, hereditary multiorgan disease characterized by malfunction of motile cilia. Hallmark symptom is a chronic airway infection due to mucostasis leading to irreversible lung damage that may progress to respiratory failure. There is no cure for this genetic disease and evidence-based treatment is limited. Until recently, there were no randomized controlled trials performed in PCD, but this year, data of the first placebo-controlled trial on pharmacotherapy in PCD were published. This cornerstone in the management of PCD was decisive for reviewing currently used treatment strategies. This article is a consensus of patient representatives and clinicians, which are highly experienced in care of PCD-patients and provides an overview of the management of PCD. Treatments are mainly based on expert opinions, personal experiences, or are deduced from other lung diseases, notably cystic fibrosis (CF), COPD or bronchiectasis. Most strategies focus on routine airway clearance and treatment of recurrent respiratory tract infections. Non-respiratory symptoms are treated organ specific. To generate further evidence-based knowledge, other projects are under way, e. g. the International PCD-Registry. Participating in patient registries facilitates access to clinical and research studies and strengthens networks between centers. In addition, knowledge of genotype-specific course of the disease will offer the opportunity to further improve and individualize patient care.

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Referenzen

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