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Updated: Jun 20, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

Telomere biology disorders associated with childhood interstitial lung disease

Maria Greiner-Mai1, Christina Katharina Rapp2, Katrin Knoflach2

  • 1Department of Pediatrics, University of Leipzig Medical Center, Leipzig, Germany.

Clinical and Experimental Pediatrics
|June 19, 2026
PubMed

Insights

Pediatric telomere biology disorders (TBDs) cause aggressive lung disease with varied symptoms. Early genetic testing and multidisciplinary care are crucial for managing this rare, severe childhood interstitial lung disease (chILD).

Area of Science:

  • Pulmonology
  • Genetics
  • Pediatrics

Background:

  • Telomere biology disorders (TBDs) are rare inherited conditions affecting telomere maintenance and causing multisystem diseases.
  • While pulmonary fibrosis in adults with TBDs is known, data on childhood interstitial lung disease (chILD) linked to TBDs are limited.

Purpose of the Study:

  • To characterize the pulmonary phenotype, genetic spectrum, and clinical course of TBD-associated chILD.
  • To investigate the specific lung manifestations and outcomes in pediatric patients with TBDs.

Main Methods:

  • A registry-based cohort study utilized the European chILD-EU database to identify pediatric patients with telomere maintenance gene variants.
  • Systematic analysis included clinical data, longitudinal outcomes, telomere length measurements, high-resolution computed tomography (HRCT), and histopathology.

Main Results:

  • Ten children with confirmed or suspected TBDs and variants in genes like TERT, TERC, and RTEL1 were identified.
  • Pulmonary findings were diverse, including interstitial pneumonia and fibrosis on HRCT and biopsy. The disease course was severe, with 70% requiring oxygen, 30% needing stem cell transplant, and 40% mortality.
  • Telomere length was significantly reduced in most tested patients.

Conclusions:

  • TBD-associated chILD is a rare, aggressive, multisystem disorder with wide-ranging lung manifestations.
  • Prompt genetic testing and comprehensive, multidisciplinary management are essential for improving outcomes in affected children.
  • The study highlights the critical need for early diagnosis and intervention due to the potential for rapid disease progression and high mortality.
Abstract

Keywords:
Dyskeratosis CongenitaInterstitialLung DiseasesPediatricsPulmonary FibrosisTelomere

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