[Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk]. / Spontane pneumothorax als eerste uiting van een erfelijke aandoening met een verhoogde kans op nierkanker.
Ned Tijdschr Geneeskd
; 153: A581, 2009.
Article
em Nl
| MEDLINE
| ID: mdl-19857281
ABSTRACT
Spontaneous pneumothorax can be due to Birt-Hogg-Dubé syndrome (BHD syndrome), an autosomal dominant predisposition for fibrofolliculomas, multiple lung cysts, pneumothorax and renal cancer. The syndrome is the result of germline mutations in the FLCN (folliculin) gene. Its clinical presentation is highly variable. Consequently, this syndrome is probably under-diagnosed. An illustrative kindred is presented in which the index patient, a man aged 26, had recurrent episodes of pneumothorax without apparent skin lesions or renal abnormalities. He had bilateral mostly basally-located lung cysts. There was a family history of fibrofolliculomas, lung cysts, pneumothorax and clear cell renal cancer. Recognition of BHD is important since carriers of the mutation can be offered surveillance for early detection and treatment of renal cancer.
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Base de dados:
MEDLINE
Assunto principal:
Pneumotórax
/
Dermatopatias
/
Síndromes Neoplásicas Hereditárias
/
Proteínas Proto-Oncogênicas
/
Proteínas Supressoras de Tumor
/
Neoplasias Renais
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
Nl
Ano de publicação:
2009
Tipo de documento:
Article