Greiner-Mai et al. expand recognition of telomere biology disorder (TBD)-associated interstitial lung disease (ILD) in children, demonstrating heterogenous radiographic and ILD subtypes in combination with variable extrapulmonary phenotypes, even in the absence of ultrashort peripheral blood telomere length (TL).While their findings highlight some of the limitations of current TL testing methods, they introduce critical questions regarding family screening and the role of antifibrotic and telomeredirected therapies in children with TBD-related ILD.Despite being first described in children, the pulmonary manifestations of telomere biology disorders (TBDs) have been better studied in adults with interstitial lung disease (ILD).Between 15%-30% of adults with familial ILD have short telomeres (10th percentile.Greiner-Mai et al. 2) identified 10 pediatric patients within chILD-EU with TBD ILD.While the denominator is not reported, given the size of the data base presented
Andrew Courtwright (Tue,) studied this question.