Birt-Hogg-Dubé Syndrome

Česká verzia

Authors: A. Křepelová ^1,2; A. Puchmajerová ¹; P. Vasovčák ¹; M. Chocholatý ³
Authors place of work: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha ¹; Ústav biologie a lékařské genetiky, 2. LF UK a FN Motol, Praha ²; Urologická klinika, 2. LF UK a FN Motol, Praha ³
Published in the journal: Klin Onkol 2012; 25(Supplementum): 18-20

Summary

Birt-Hogg-Dubé syndrome (BHDS, MIM 135150) is an autosomal dominant condition characterized by presence of skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The disease is caused by germ-line mutations of the FLCN gene, which encodes protein folliculin. BHDS is a rare condition with high penetrance and variable expression. Clinical recommendations include increased care during general anesthesia due to a higher risk of pneumothorax, and long-term follow-up due to an elevated risk of renal cancer. Diagnostic and predictive DNA tests are available; prenatal and preimplantation diagnosis is possible.

Key words:
Birt-Hogg-Dubé Syndrome – FLCN gene – folliculin – fibrofolliculoma – pneumothorax – renal cancer

This study was supported by institutional resources for supporting the Research Organization (00064203) and by UK Grant agency 104610.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
25. 4. 2012

Accepted:
2. 5. 2012

Zdroje

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