Zusammenfassung
Charakteristika
Die autosomal-rezessiv vererbte Mukoviszidose ist eine chronisch progrediente Systemerkrankung aller exokrinen Drüsen. Verursacht wird sie durch Mutationen im CFTR-Gen („cystic fibrosis transmembrane conductance regulator gene“), die in einer Präzipitation und Retention muköser Sekrete in den Ausführungsgängen der exokrinen Drüsen und einer Disposition der Atemwege zur Infektion resultieren.
Diagnose
Die Diagnose wird anhand von pathologisch erhöhten Chloridkonzentrationen oder 2 obligat krankheitsauslösenden CFTR-Mutationen gestellt. Bei nicht informativer Genetik und/oder Chloridkonzentrationen im Intermediärbereich ist bei klinischem Verdacht eine weiterführende CFTR-Funktionsdiagnostik indiziert. Der Verlauf der gastrointestinalen und pulmonalen Manifestation muss durch regelmäßige standardisierte Kontrolluntersuchungen überwacht werden.
Therapie
Die Standardtherapie der gastrointestinalen Symptomatik beinhaltet die Substitution von magensäureresistenten Pankreasenzymen und fettlöslicher Vitamine sowie eine hochkalorische, fettreiche Ernährung. Wesentliche Säulen der gegenwärtigen Therapie der pulmonalen Symptomatik sind eine großzügige und frühzeitige antimikrobielle Chemotherapie, Inhalationen, antiinflammatorische Behandlung sowie Sport und Physiotherapie. Bei fortgeschrittenem pulmonalem Krankheitsprozess kommen zusätzlich Sauerstofflangzeittherapie, nichtinvasive Maskenbeatmung und letztlich eine Lungentransplantation in Frage.
Resümee
Die pulmonale Manifestation bestimmt für gegenwärtig nahezu 90 % der Patienten den Verlauf und die Prognose der CF. Eine möglichst frühe Diagnose und Betreuung an einem CF-Zentrum wirken sich günstig aus.
Abstract
Characteristics
Cystic fibrosis (CF) is an autosomal recessive hereditary systemic disease with a chronic progressive course affecting all exocrine glands. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR gene) which results in precipitation and retention of mucous secretions in the ducts of exocrine glands and a disposition to respiratory infections.
Diagnosis
The diagnosis of CF is based on a pathologically increased chloride concentration or two mandatory disease-triggering CFTR gene mutations. If the genetic tests and/or chloride concentrations in intermediate ranges are uninformative but CF is clinically suspected, extended CFTR functional diagnostics should be carried out. The course of gastrointestinal and pulmonary manifestations must be monitored by regular standardized control investigations.
Therapy
The standard therapy of gastrointestinal symptoms includes substitution of gastric acid-resistant pancreatic enzymes, a high calorie fat-rich diet and substitution of fat soluble vitamins. The essential pillars of the current therapy of pulmonary symptoms are liberal and early antimicrobial chemotherapy, inhalation, anti-inflammatory treatment, sport and physiotherapy. In cases of advanced pulmonary disease processes, long-term oxygen therapy, non-invasive mask ventilation and ultimately lung transplantation are further options.
Conclusions
The pulmonary manifestations are critical factors which currently determine the course and prognosis of cystic fibrosis in nearly 90 % of patients. The earliest possible diagnosis and nursing in a CF center have advantageous effects.
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Interessenkonflikt
Der korrespondierende Autor weist auf folgende Beziehung hin: Der Autor ist Mitglied mehrerer Advisory Boards der Firma Vertex Pharmaceuticals Incorporated, die CFTR-Modulatoren entwickelt und vertreibt.
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Tümmler, B. Mukoviszidose. Monatsschr Kinderheilkd 161, 399–405 (2013). https://doi.org/10.1007/s00112-012-2797-z
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DOI: https://doi.org/10.1007/s00112-012-2797-z