Non-CF Bronchiectasis as a Possible Indicator of a Primary Immunodeficiency: Diagnosis, Clinical Course, and Quality of Life in a Pediatric Cohort

Abstract

Background Non cystic fibrosis bronchiectasis (NCBE) is an increasingly recognized chronic, progressive respiratory disorder with significant morbidity also in children and adolescents.

Methods We longitudinally assessed a cohort of 35 pediatric patients with NCBE and investigated underlying diagnosis, symptoms, clinical course, treatment, and quality of life.

Results NCBE were diagnosed at a mean age of 9.5 (±5.3) years. In half of the children NCBE were found prior to identification of the causative diagnosis. Primary immunodeficiency (PID) was identified as the underlying diagnosis in 24/35 (68%) cases, of which two-thirds showed antibody deficiency. In the 11 non-PID cases ciliopathies were most common (n=7). Clinical aspects such as manifestation age, cough or dyspnea symptoms, and exacerbation frequency did not differ significantly between PID and non-PID patients. Likewise, quality of life (QoL) was equally reduced in both groups. Lung function test parameters were stable under appropriate therapy in all children. The majority in both groups was insufficiently vaccinated against influenza and pneumococci.

Conclusion Our data indicates that NCBE need to be especially appreciated as a presenting sign of PID in pediatric patients. Thus, occurrence of NCBE should warrant rigorous diagnostics to identify the underlying condition. In our cohort NCBE themselves rather than the causative diagnoses seem to dictate the clinical course of disease and reduce QoL in children. More intensive efforts have to be undertaken to vaccinate patients according to recommendations.

Zusammenfassung

Hintergrund Nicht zystische Fibrose assoziierte Bronchiektasen (NCBE) sind eine zunehmend diagnostizierte chronische, progressive Atemwegserkrankung mit signifikanter Morbidität auch bei Kindern und Jugendlichen.

Methoden Eine Kohorte von 35 Kindern wurde longitudinal hinsichtlich der zugrunde liegende Diagnose, Symptome, klinischem Verlauf, Behandlung und Lebensqualität untersucht.

Ergebnisse NCBE wurden im Mittel im Alter von 9,5 Jahren (± 5,3) diagnostiziert. In der Hälfte der Fälle erfolge der NCBE Nachweis bevor eine zugrunde liegende Diagnose gestellt werden konnte. Primäre Immundefekte (PID) wurden bei 24/35 Patienten (68 %) identifiziert. Von diesen wiesen zwei Drittel einen Antikörpermangel auf. Primäre ziliäre Dyskinesie (n = 7) war die häufigste Diagnose in der Nicht-PID Gruppe (n = 11). PID- und Nicht-PID-Patienten zeigten keinen signifikanten Unterschied bezüglich Manifestationsalter, Husten, Dyspnoe und die Exazerbationsfrequenz. Die Lebensqualität war in beiden Gruppen gleichermaßen reduziert. Lungenfunktionstest-Parameter waren bei entsprechender Therapie bei allen Kindern stabil. Die Mehrheit der Patienten in beiden Gruppen war unzureichend gegen Influenza und Pneumokokken geimpft.

Zusammenfassung NCBE sollten als Manifestationszeichen von PID bei pädiatrischen Patienten wahrgenommen werden und sollten eine rigorose Diagnostik nach sich ziehen, um die zugrunde liegende Erkrankung zu identifizieren. In unserer Kohorte scheinen NCBE selbst und nicht die ursächliche Diagnose den Verlauf der Erkrankung und die Lebensqualität zu beeinflussen. Intensivere Anstrengungen sollten unternommen werden, um Patienten mit NCBE entsprechend der Empfehlungen zu impfen.

Key words

bronchiectasis - non-CF - immunodeficiency - quality of life

Schlüsselwörter

Bronchiektasen - Nicht-CF - Immundefekt - Lebensqualität

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