Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature reviewReport as inadecuate




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BMC Blood Disorders

, 11:3

First Online: 15 June 2011Received: 22 February 2011Accepted: 15 June 2011

Abstract

BackgroundDyskeratosis 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 presentationIn 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.

ConclusionOur 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.

AbbreviationsBMFbone marrow failure

CTcomputerized tomography

CXRchest radiograph

DCdyskeratosis congenita

DLCOdiffusion capacity for carbon monoxide

Ffemale

FEV1forced expiratory volume in 1 second

FVCforced vital capacity

GvHDgraft versus host disease

HSCThematopoietic stem cell transplant

IPFidiopathic pulmonary fibrosis

Mmale

MDSmyelodysplastic syndrome

PFTpulmonary function tests

RVresidual volume

SAAsevere aplastic anemia

TLCtotal lung capacity

UIPusual interstitial pneumonia.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2326-11-3 contains supplementary material, which is available to authorized users.

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Author: Neelam Giri - Rees Lee - Albert Faro - Charles B Huddleston - Frances V White - Blanche P Alter - Sharon A Savage

Source: https://link.springer.com/article/10.1186/1471-2326-11-3







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