Abstract
Cartilage-hair hypoplasia is a syndromic immunodeficiency with short stature, chondrodysplasia, and variable degree of immune dysfunction. Patients with cartilage-hair hypoplasia are prone to recurrent respiratory tract infections, and the prevalence of bronchiectasis ranges from 29 to 52%. Pulmonary complications contribute significantly to the mortality; therefore, regular lung imaging is essential. However, the optimal schedule for repeated lung imaging remains unestablished. We determined the rate and correlates of progression of structural lung changes in a prospectively followed cohort of 16 patients with cartilage-hair hypoplasia. We analyzed clinical, laboratory, and pulmonary functional testing data and performed lung magnetic resonance imaging at a median interval of 6.8 years since previous imaging. Imaging findings remained identical or improved due to disappearance of inflammatory changes in all evaluated patients. Patients with subtle signs of bronchiectasis on imaging tended to have low immunoglobulin M levels, as well as suffered from pneumonia during the follow-up. In conclusion, our results suggest slow if any development of bronchiectasis in selected subjects with cartilage-hair hypoplasia.
Highlights
Cartilage-hair hypoplasia (CHH, MIM # 250250) is a syndromic immunodeficiency characterized by short stature, chondrodysplasia, and variable degree of immune dysfunction
CHH is caused by pathogenic variants in the RMRP gene, encoding the untranslated RNA component of the mitochondrial endoribonuclease RNase MRP [3]
We have previously reported the high prevalence of bronchiectasis in patients with CHH [10]
Summary
Cartilage-hair hypoplasia (CHH, MIM # 250250) is a syndromic immunodeficiency characterized by short stature, chondrodysplasia, and variable degree of immune dysfunction [1, 2]. Immune dysfunction in CHH leads to increased susceptibility to infections, mostly recurrent upper and lower respiratory tract infections, autoimmunity, and increased incidence of malignancy [7,8,9]. Regular pulmonary imaging is essential, and bronchiectasis can reliably be followed up with lung magnetic resonance imaging (MRI), sparing patients from ionizing radiation [10]. The rate and determinants of progression of pulmonary changes and the optimal schedule for follow-up imaging in CHH remain unestablished. We used Chi-square test to search for correlates between MRI score and clinical and laboratory variables. Statistical analyses were performed with IBM SPSS version 25 software
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
