Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome
Joint Authors
van Waesberghe, J. H. T. M.
Menko, F. H.
van Moorselaar, R. J. A.
Thunnissen, E.
van der Kolk, L. E.
Postmus, P. E.
Johannesma, P. C.
Horenblas, S.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-20
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Birt-Hogg-Dubé (BHD) syndrome is a cancer disorder caused by a pathogenic FLCN mutation characterized by fibrofolliculomas, lung cysts, pneumothorax, benign renal cyst, and renal cell carcinoma (RCC).
In this case we describe a patient with bilateral renal tumour and a positive familial history for pneumothorax and renal cancer.
Based on this clinical presentation, the patient was suspected for BHD syndrome, which was confirmed after molecular testing.
We discuss the importance of recognizing this autosomal dominant cancer disorder when a patient is presented at the urologist with a positive family history of chromophobe renal cell cancer or a positive familial history for renal cell cancer and pneumothorax.
American Psychological Association (APA)
Johannesma, P. C.& van Moorselaar, R. J. A.& Horenblas, S.& van der Kolk, L. E.& Thunnissen, E.& van Waesberghe, J. H. T. M.…[et al.]. 2014. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome. Case Reports in Medicine،Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-485605
Modern Language Association (MLA)
Johannesma, P. C.…[et al.]. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome. Case Reports in Medicine No. 2014 (2014), pp.1-4.
https://search.emarefa.net/detail/BIM-485605
American Medical Association (AMA)
Johannesma, P. C.& van Moorselaar, R. J. A.& Horenblas, S.& van der Kolk, L. E.& Thunnissen, E.& van Waesberghe, J. H. T. M.…[et al.]. Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome. Case Reports in Medicine. 2014. Vol. 2014, no. 2014, pp.1-4.
https://search.emarefa.net/detail/BIM-485605
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-485605
