Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome

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 co...

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Veröffentlicht in:Klinická onkologie 2012, Vol.25 Suppl, p.S18-S20
Hauptverfasser: Křepelová, A, Puchmajerová, A, Vasovčák, P, Chocholatý, M
Format: Artikel
Sprache:cze
Schlagworte:
Birt-Hogg-Dube Syndrome - diagnosis
Birt-Hogg-Dube Syndrome - genetics
Germ-Line Mutation
Humans
Proto-Oncogene Proteins - genetics
Tumor Suppressor Proteins - genetics
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Beschreibung
Zusammenfassung: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.
ISSN:0862-495X