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A Single Lung Transplant in a Patient with Fabry Disease : Causality or Far-Fetched? A Case Report
المؤلفون المشاركون
Gaggl, Martina
Mundigler, Gerald
Haider, Dominik
Voigtländer, Till
Rommer, Paulus
Sunder-Plassmann, Raute
Jaksch, Peter
Sunder-Plassmann, Gere
Kain, Renate
Klepetko, Walter
المصدر
Case Reports in Transplantation
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-04-07
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
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.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Gaggl, Martina& Kain, Renate& Jaksch, Peter& Haider, Dominik& Mundigler, Gerald& Voigtländer, Till…[et al.]. 2013. A Single Lung Transplant in a Patient with Fabry Disease : Causality or Far-Fetched? A Case Report. Case Reports in Transplantation،Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-506946
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Gaggl, Martina…[et al.]. A Single Lung Transplant in a Patient with Fabry Disease : Causality or Far-Fetched? A Case Report. Case Reports in Transplantation No. 2013 (2013), pp.1-6.
https://search.emarefa.net/detail/BIM-506946
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Gaggl, Martina& Kain, Renate& Jaksch, Peter& Haider, Dominik& Mundigler, Gerald& Voigtländer, Till…[et al.]. A Single Lung Transplant in a Patient with Fabry Disease : Causality or Far-Fetched? A Case Report. Case Reports in Transplantation. 2013. Vol. 2013, no. 2013, pp.1-6.
https://search.emarefa.net/detail/BIM-506946
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-506946
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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