Pulmonary fibrosis is a serious complication of dyskeratosis congenita (DC). Lung function tests are ‘blowing tests’ where the patient blows into a machine to measure how well the lungs work. These tests can predict lung problems before they develop, which is important given the possibility of future treatments such as pirfenidone and nintedanib (see ‘Treatments’ section for more information).
Dr Sharon Savage’s group have investigated abnormalities in lung function tests in 51 adults and children with DC. Reduced DLCO (i.e. reduced ability of the lung to transfer oxygen from air to blood), seen in 66% of those tested, seems to be the first abnormality seen. Only those with reduced DLCO had other lung function abnormalities, particularly reduced FVC (restriction in the volume of the lungs), which was seen in 31% of those tested. Those with abnormal lung function were more likely to develop lung disease than those with normal lung function, and to have other complications associated with DC.
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