Background: Dyskeratosis congenita (DC) is a progressive, multi-system, inherited disorder of telomere biology\r\nwith high risks of morbidity and mortality from bone marrow failure, hematologic malignancy, solid tumors and\r\npulmonary fibrosis. Hematopoietic stem cell transplantation (HSCT) can cure the bone marrow failure, but it does\r\nnot eliminate the risks of other complications, for which life-long surveillance is required. Pulmonary fibrosis is a\r\nprogressive and lethal complication of DC.\r\nCase presentation: In this report, we describe a patient with DC who developed pulmonary fibrosis seven years\r\nafter HSCT for severe aplastic anemia, and was successfully treated with bilateral lung transplantation. We also\r\nperformed a systematic literature review to understand the burden of pulmonary disease in patients with DC who\r\ndid or did not receive an HSCT. Including our patient, we identified 49 DC patients with pulmonary disease (12\r\nafter HSCT and 37 without HSCT), and 509 with no reported pulmonary complications.\r\nConclusion: Our current case and literature review indicate that pulmonary morbidity is one of the major\r\ncontributors to poor quality of life and reduced long-term survival in DC. We suggest that lung transplantation be\r\nconsidered for patients with DC who develop pulmonary fibrosis with no concurrent evidence of multi-organ\r\nfailure.
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