Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome
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...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2014/618675 |
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| author | P. C. Johannesma R. J. A. van Moorselaar S. Horenblas L. E. van der Kolk E. Thunnissen J. H. T. M. van Waesberghe F. H. Menko P. E. Postmus |
| author_facet | P. C. Johannesma R. J. A. van Moorselaar S. Horenblas L. E. van der Kolk E. Thunnissen J. H. T. M. van Waesberghe F. H. Menko P. E. Postmus |
| author_sort | P. C. Johannesma |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-7ee9fba051cf4b6785e94fdd83c47525 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-7ee9fba051cf4b6785e94fdd83c475252025-02-03T01:21:41ZengWileyCase Reports in Medicine1687-96271687-96352014-01-01201410.1155/2014/618675618675Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé SyndromeP. C. Johannesma0R. J. A. van Moorselaar1S. Horenblas2L. E. van der Kolk3E. Thunnissen4J. H. T. M. van Waesberghe5F. H. Menko6P. E. Postmus7Department of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsDepartment of Urology, VU University Medical Center, Amsterdam, The NetherlandsUrologic Oncology and Department of Urology, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The NetherlandsDepartment of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The NetherlandsDepartment of Pathology, VU University Medical Center, Amsterdam, The NetherlandsDepartment of Radiology, VU University Medical Center, Amsterdam, The NetherlandsDepartment of Clinical Genetics, The Netherlands Cancer Institute, P.O. Box 90203, 1006 BE Amsterdam, The NetherlandsDepartment of Pulmonary Diseases, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, The NetherlandsBirt-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.http://dx.doi.org/10.1155/2014/618675 |
| spellingShingle | P. C. Johannesma R. J. A. van Moorselaar S. Horenblas L. E. van der Kolk E. Thunnissen J. H. T. M. van Waesberghe F. H. Menko P. E. Postmus Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome Case Reports in Medicine |
| title | Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome |
| title_full | Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome |
| title_fullStr | Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome |
| title_full_unstemmed | Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome |
| title_short | Bilateral Renal Tumour as Indicator for Birt-Hogg-Dubé Syndrome |
| title_sort | bilateral renal tumour as indicator for birt hogg dube syndrome |
| url | http://dx.doi.org/10.1155/2014/618675 |
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