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Case Reports in Transplantation
Volume 2013 (2013), Article ID 905743, 6 pages
http://dx.doi.org/10.1155/2013/905743
Case Report

A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report

1Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
2Department of Pathology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
3Department of Surgery, Division of Thoracic Surgery, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
4Department of Medicine II, Division of Cardiology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
5Institute of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
6Department of Laboratory Medicine, Laboratory for Molecular Diagnostics, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria
7Deparment of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria

Received 15 January 2013; Accepted 16 February 2013

Academic Editors: P. A. Andrews and D. Conti

Copyright © 2013 Martina Gaggl et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an -galactosidase A deficiency resulting in globotriaosylceramide storage within cells. Subsequently, various organ systems are involved, clinically the most important are kidneys, the heart, and the peripheral and central nervous systems. Although obstructive lung disease is a common pathological finding in Fabry disease, pulmonary involvement is a clinically disregarded feature. Case Presentation. We report a patient with a diagnosis of chronic obstructive pulmonary disease (COPD) who received a single lung transplant in 2007. Later, a kidney biopsy revealed the diagnosis of Fabry disease, which was confirmed by enzymatic and genetic testing. Ultrastructural changes in a native lung biopsy were consistent with the diagnosis. Although the association of a lung transplant and Fabry disease appears far-fetched on first sight, respiratory impairment cannot be denied in Fabry disease. Conclusion. With this case presentation, we would like to stimulate discussion about rare differential diagnoses hidden beneath widespread disease and that a correct diagnosis is the base of an optimal treatment strategy for each patient. Overall, the patient might have benefited from specific enzyme replacement therapy, especially in view of the chronic kidney disease.