| バートホッグデュべ症候群 Birt-Hogg-Dube（BHD）syndrome |
| Features of cyst and cyst-mimicking lucencies |
・Cyst：A round parenchymal lucency interfaced with normal lung. Thin wall (< 2 mm).
・Emphysema：Permanently enlarged airspace distal to the terminal bronchiole without a wall.
・Cavity：A gas-filled space within consolidation, a mass or a nodule. Typically thick walled. Sometimes contains a fluid level.
・Bulla：An airspace (size > 1 cm) with a round focal lucency, bounded by a thin wall (< 1 mm)
・Bleb：Small sized (< 1 cm), gas-containing space within the visceral pleura or in the subpleural area.
・Pneumatocele：A thin-walled, gas-filled space in the lung, caused by infection, trauma, aspiration of hydrocarbon fluid .
・Honeycombing：Subpleural, multiple cystic cluster, typically 3-10 mm in diameter with well-defined walls. Suggestive of end-stage lung disease.
Diagnosis and treatment of cystic lung disease
Park S, Lee EJ.Korean J Intern Med. 2017 Mar; 32(2): 229–238.
| Cystic Lung Disease |
Differential diagnosis
・Lymphangioleiomyomatosis(LAM)
・Plumonary Langerhance Cell Histiocytosis(PLCH)
・Birt-Hogg-Dubé(BHD) syndrome
・Lymphocitic Interstitial Pneumonia(LIP)
・Amyloidosis（AL）
| Disorder | Age | CT findings (cyst) | |||
| Shape | Diameter | Distribution | Other | ||
| LAM | 35 | Round, smooth |
2-5mm, 30mm |
Diffuse | Effusion |
| PLCH | 2-40 | Bizarre, irregular |
Upper/ middle lobe |
Nodules, cavitation | |
| BHD | 3-40 | Round, lentiform Internal structure (+) |
2-78mm | Basilar, medial, subpleural， perivascular |
|
| LIP | 4-70 | Internal structure (+) |
＜30mm | Random, perivascular |
GGO, centrilobular nodules, septal thickening |
| AL | - | Round | Random | Nodules, calcified cavitation |
|
Diagnosis and treatment of cystic lung disease
Park S, Lee EJ.Korean J Intern Med. 2017 Mar; 32(2): 229–238.
遺伝子診断の結果
Birt-Hogg-Dubé syndrome
と診断された。
| Birt-Hogg-Dubé (BHD)症候群 |
・常染色体優性遺伝（ folliculin[FLCN]遺伝子の変異）
・性差なし
・多発肺嚢胞（下肺野縦隔側優位）
・胸膜に接する嚢胞が多い（約４０％）。
・肺内の中枢側の血管陰影に接する嚢胞が見られることが多い。
・嚢胞内に肺血管が進入する所見が特徴的。
・皮膚病変、腎腫瘍の合併あり。
参考文献
- Park S, Lee EJ ： Diagnosis and treatment of cystic lung disease.Korean J Intern Med. 2017 Mar; 32(2): 229−238.
- Tobino K, et al：Carastaristic of plumonary cysts in Birt-Hogg-Dube syndrome：thin-section CT findings of the chest in 12 patient.Eur j radiol 2011 Mar ;77(3):403-9
- 胸部のCT 第3版 MEDSI
- 江間ら、両側腎細胞癌と多発肺嚢胞を認めた Birt-Hogg-Dube´ 症候群の 1 例。日呼吸誌 2013； 2（1）：13-17
|