A Case of Birt-Hogg-Dube Syndrome Diagnosed by a Folliculin Gene Mutation / 대한내과학회지
Korean Journal of Medicine
;
: 102-106, 2011.
Article
Dans Coréen
| WPRIM
| ID: wpr-131161
ABSTRACT
Birt-Hogg-Dube (BHD) syndrome is a rare, autosomal-dominant disorder that is caused by germ-line mutations in the folliculin gene. Clinically, BHD syndrome is characterized by cutaneous follicle tumors, pulmonary cysts, spontaneous pneumothorax, and an increased risk of renal cancer. A 65-year-old woman was admitted to Seoul St. Mary's Hospital to treat pneumonia, and we found that she had experienced recurrent spontaneous pneumothorax and had bilateral multiple pulmonary cysts with no history of smoking. Mutation analysis of the folliculin gene identified a novel mutation in exon 9 (c.997_998delTC; p.Ser333ArgfsX56). Except for the lung manifestation, no other features of BHD syndrome were detected in this case. Here, we report a case of BHD syndrome that manifested only as lung disease with a novel mutation.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pneumopathie infectieuse
/
Pneumothorax
/
Fumée
/
Fumer
/
Exons
/
Délétion de gène
/
Mutation germinale
/
Oestrone
/
Syndrome de Birt-Hogg-Dubé
/
Tumeurs du rein
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Adulte très âgé
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Medicine
Année:
2011
Type:
Article
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