A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report
Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-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 periph...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Transplantation |
| Online Access: | http://dx.doi.org/10.1155/2013/905743 |
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| author | Martina Gaggl Renate Kain Peter Jaksch Dominik Haider Gerald Mundigler Till Voigtländer Raute Sunder-Plassmann Paulus Rommer Walter Klepetko Gere Sunder-Plassmann |
| author_facet | Martina Gaggl Renate Kain Peter Jaksch Dominik Haider Gerald Mundigler Till Voigtländer Raute Sunder-Plassmann Paulus Rommer Walter Klepetko Gere Sunder-Plassmann |
| author_sort | Martina Gaggl |
| collection | DOAJ |
| description | Introduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-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. |
| format | Article |
| id | doaj-art-c659973842f743db95d2fcaa6916afab |
| institution | Kabale University |
| issn | 2090-6943 2090-6951 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Transplantation |
| spelling | doaj-art-c659973842f743db95d2fcaa6916afab2025-02-03T01:03:20ZengWileyCase Reports in Transplantation2090-69432090-69512013-01-01201310.1155/2013/905743905743A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case ReportMartina Gaggl0Renate Kain1Peter Jaksch2Dominik Haider3Gerald Mundigler4Till Voigtländer5Raute Sunder-Plassmann6Paulus Rommer7Walter Klepetko8Gere Sunder-Plassmann9Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Pathology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Surgery, Division of Thoracic Surgery, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Medicine II, Division of Cardiology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaInstitute of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Laboratory Medicine, Laboratory for Molecular Diagnostics, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDeparment of Neurology, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Surgery, Division of Thoracic Surgery, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaDepartment of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, AustriaIntroduction. Fabry disease is a rare X-linked lysosomal storage disorder, characterized by an α-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.http://dx.doi.org/10.1155/2013/905743 |
| spellingShingle | Martina Gaggl Renate Kain Peter Jaksch Dominik Haider Gerald Mundigler Till Voigtländer Raute Sunder-Plassmann Paulus Rommer Walter Klepetko Gere Sunder-Plassmann A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report Case Reports in Transplantation |
| title | A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report |
| title_full | A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report |
| title_fullStr | A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report |
| title_full_unstemmed | A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report |
| title_short | A Single Lung Transplant in a Patient with Fabry Disease: Causality or Far-Fetched? A Case Report |
| title_sort | single lung transplant in a patient with fabry disease causality or far fetched a case report |
| url | http://dx.doi.org/10.1155/2013/905743 |
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