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Open Access Case report

Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

Neelam Giri1*, Rees Lee2, Albert Faro3, Charles B Huddleston4, Frances V White5, Blanche P Alter1 and Sharon A Savage1

Author Affiliations

1 Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, Rockville 20852, MD, USA

2 Department of Pediatrics, Pediatric Pulmonary Medicine, Naval Medical Center, Portsmouth, VA 23708, USA

3 Department of Pediatrics, Division of Pulmonary Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA

4 Department of Surgery, Washington University School of Medicine, St. Louis, MO 63110, USA

5 Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA

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BMC Blood Disorders 2011, 11:3  doi:10.1186/1471-2326-11-3

Published: 15 June 2011

Abstract

Background

Dyskeratosis congenita (DC) is a progressive, multi-system, inherited disorder of telomere biology with high risks of morbidity and mortality from bone marrow failure, hematologic malignancy, solid tumors and pulmonary fibrosis. Hematopoietic stem cell transplantation (HSCT) can cure the bone marrow failure, but it does not eliminate the risks of other complications, for which life-long surveillance is required. Pulmonary fibrosis is a progressive and lethal complication of DC.

Case presentation

In this report, we describe a patient with DC who developed pulmonary fibrosis seven years after HSCT for severe aplastic anemia, and was successfully treated with bilateral lung transplantation. We also performed a systematic literature review to understand the burden of pulmonary disease in patients with DC who did or did not receive an HSCT. Including our patient, we identified 49 DC patients with pulmonary disease (12 after HSCT and 37 without HSCT), and 509 with no reported pulmonary complications.

Conclusion

Our current case and literature review indicate that pulmonary morbidity is one of the major contributors to poor quality of life and reduced long-term survival in DC. We suggest that lung transplantation be considered for patients with DC who develop pulmonary fibrosis with no concurrent evidence of multi-organ failure.