Rare Pediatric Pulmonary Diseases: Insights from a Survey of Pediatric Pulmonologists in German-Speaking Countries

Abstract

Background

Rare pediatric pulmonary diseases, such as childhood interstitial lung disease and congenital thoracic malformations, pose diagnostic and therapeutic challenges due to their low prevalence and clinical heterogeneity. In contrast to cystic fibrosis and primary ciliary dyskinesia, which are supported by dedicated care networks, many other rare pediatric pulmonary diseases lack structured management pathways. This study aimed to assess pediatric pulmonologists’ clinical exposure, confidence, and educational needs related to rare pediatric pulmonary diseases.

Methods

A web-based survey was distributed to all 914 members of the German Society for Pediatric Pulmonology. The questionnaire evaluated clinical experience, diagnostic confidence, and preferences for educational contents and formats. Responses were analyzed using descriptive statistics and group comparisons.

Results

Among 209 respondents (22.9% response rate), clinical exposure was low (median: 3 patients/y; interquartile range: 1–5), with 22.5% treating none. Only 36.7% of respondents felt confident in suspecting a rare pediatric pulmonary disease, 22.0% in diagnosis, and 13.3% in treatment. Educational interest was high (68.8%), particularly in clinical presentation (70.7%), treatment (69.8%), and imaging (59.0%). Clinicians with<10 years of experience reported greater interest in clinical presentation than those with≥10 years (84.5% vs. 57.3%, p=0.0002). Workshops, webinars, and online discussions were the most preferred learning formats.

Conclusions

Despite limited exposure and low reported confidence, pediatric pulmonologists express strong interest in further education on rare pediatric pulmonary diseases. Tailored, accessible educational strategies are essential to improve awareness, diagnosis, and care for children with rare pulmonary conditions.

Zusammenfassung

Hintergrund

Seltene pädiatrische Lungenerkrankungen, wie interstitielle Lungenerkrankungen im Kindesalter oder kongenitale thorakale Malformationen, sind aufgrund niedriger Prävalenz und klinischer Heterogenität diagnostisch und therapeutisch herausfordernd. Im Gegensatz zur Cystischen Fibrose oder Primärer Ciliärer Dyskinesie fehlen für viele andere Erkrankungen strukturierte Versorgungsansätze. Ziel dieser Studie war es, Expertise, diagnostische Sicherheit und Weiterbildungsbedarf von pädiatrischen PneumologINNen zu erfassen.

Methoden

Eine webbasierte Umfrage wurde an 914 Mitglieder der Gesellschaft für Pädiatrische Pneumologie verschickt. Erfragt wurden Expertise, diagnostische Sicherheit und Präferenzen zu Lerninhalten und -formaten. Die Auswertung erfolgte deskriptiv und mit Gruppenvergleichen.

Ergebnisse

Von 209 Teilnehmenden (Rücklauf 22,9 %) behandelten 22,5 % keine Patienten mit seltenen Lungenerkrankungen (Median 3/Jahr). Nur 36,7 % fühlten sich sicher im Erkennen eines Verdachts, 22,0 % in der Diagnostik und 13,3 % in der Therapie. Das Interesse an Fortbildung war hoch (68,8 %), besonders zu klinischer Präsentation (70,7 %), Therapie (69,8 %) und Bildgebung (59,0 %). Ärzte mit <10 Jahren Berufserfahrung zeigten größeres Interesse an klinischer Präsentation als solchemit ≥10 Jahren (84,5 % vs. 57,3 %, p=0,0002). Workshops, Webinare und Online-Diskussionen wurden bevorzugt.

Schlussfolgerung

Trotz geringer Fallzahlen besteht großes Interesse an strukturierter Weiterbildung zu seltenenpädiatrischen Lungenerkrankungen.

Schlüsselwörter

seltene Lungenerkrankung - Fragebogen - kongenitale thorakale Malformation - diffus parenchymatöse Lungenerkrankung - Pädiatrie

Keywords

Rare disease - questionnaire - congenital thoracic malformation - diffuse parenchymal lung disease - paediatrics

Publication History

Received: 02 July 2025

Accepted after revision: 29 September 2025

Article published online:
31 October 2025

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