The ABCs of BHD: An In-Depth Review of Birt-Hogg-Dube Syndrome

被引：27

作者：

Gupta, Shiva ^{[1
]}

Kang, Hyunseon C. ^{[1
]}

Ganeshan, Dhakshinamoorthy ^{[1
]}

Morani, Ajaykumar ^{[1
]}

Gautam, Rabindra ^{[2
]}

Choyke, Peter L. ^{[3
]}

Kundra, Vikas ^{[1
,4
]}

机构：

[1] Univ Texas MD Anderson Canc, Dept Diagnost Radiol, 1515 Holcombe Blvd,Unit 1473, Houston, TX 77030 USA

[2] NCI, Harris Tech Serv Corp, NIH, Bethesda, MD 20892 USA

[3] NCI, Ctr Canc Res, NIH, Bethesda, MD 20892 USA

[4] Univ Texas MD Anderson Canc Ctr, Dept Canc Syst Imaging, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF ROENTGENOLOGY | 2017年 / 209卷 / 06期

关键词：

Birt-Hogg-Dube syndrome; kidney; renal cell carcinoma; RENAL-CELL CARCINOMA; SPONTANEOUS PNEUMOTHORAX; PATHOLOGICAL CORRELATION; HISTOLOGIC SUBTYPES; DIAGNOSTIC-APPROACH; IMAGING SPECTRUM; GROWTH-RATES; KIDNEY; ONCOCYTOMA; DISEASE;

D O I：

10.2214/AJR.17.18071

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

OBJECTIVE. Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis. CONCLUSION. Radiologists may be one of the first medical specialists to suggest the diagnosis of BHD syndrome. Knowledge of pathogenesis and management, including the importance of the types of renal neoplasms in a given patient, is needed to properly recognize this rare condition.

引用

页码：1291 / 1296

页数：6

共 34 条

[1] Papillary (chromophil) renal cell carcinoma: Histomorphologic characteristics and evaluation of conventional pathologic prognostic parameters in 62 cases [J].

Amin, MB ;

Corless, CL ;

Renshaw, AA ;

Tickoo, SK ;

Kubus, J ;

Schultz, DS .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 1997, 21 (06) :621-635

[2] Hereditary causes of kidney tumours [J].

Axwijk, Priscilla Helene ;

Kluijt, Irma ;

de Jong, Daphne ;

Gille, Hans ;

Teertstra, Jelle ;

Horenblas, Simon .

EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 2010, 40 (05) :433-439

[3] Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling [J].

Baba, Masaya ;

Hong, Seung-Beom ;

Sharma, Nirmala ;

Warren, Michelle B. ;

Nickerson, Michael L. ;

Iwamatsu, Akihiro ;

Esposito, Dominic ;

Gillette, William K. ;

Hopkins, Ralph F., III ;

Hartley, James L. ;

Furihata, Mutsuo ;

Oishi, Shinya ;

Zhen, Wei ;

Burke, Terrence R., Jr. ;

Linehan, W. Marston ;

Schmidt, Laura S. ;

Zbar, Berton .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (42) :15552-15557

[4] Computed Tomography Appearance of Renal Hybrid Oncocytic/Chromophobe Tumors [J].

Bhatnagar, Akrita ;

Rowe, Steven P. ;

Gorin, Michael A. ;

Pomper, Martin G. ;

Fishman, Elliot K. ;

Allaf, Mohamad E. .

JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY, 2016, 40 (04) :513-516

[5] The Impact of Germline BHD Mutation on Histological Concordance and Clinical Treatment of Patients With Bilateral Renal Masses and Known Unilateral Oncocytoma [J].

Boris, Ronald S. ;

Benhammou, Jihane ;

Merino, Maria ;

Pinto, Peter A. ;

Linehan, W. Marston ;

Bratslavsky, Gennady .

JOURNAL OF UROLOGY, 2011, 185 (06) :2050-2055

[6]

Butnor KJ, 2006, AM J SURG PATHOL, V30, P395

[7] Comparisons of outcome and prognostic features among histologic subtypes of renal cell carcinoma [J].

Cheville, JC ;

Lohse, CM ;

Zincke, H ;

Weaver, AL ;

Blute, ML .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2003, 27 (05) :612-624

[8] Renal Cell Carcinoma: Recent Advances in Genetics and Imaging [J].

Choudhary, Shaile ;

Sudarshan, Sunil ;

Choyke, Peter L. ;

Prasad, Srinivasa R. .

SEMINARS IN ULTRASOUND CT AND MRI, 2009, 30 (04) :315-325

[9] Hereditary renal cancers [J].

Choyke, PL ;

Glenn, GM ;

Walther, MM ;

Zbar, B ;

Linehan, WM .

RADIOLOGY, 2003, 226 (01) :33-46

[10] Birt-Hogg-Dube syndrome. State-of-the-art review with emphasis on pulmonary involvement [J].

Dal Sasso, Aline Amaral ;

Belem, Luciana Camara ;

Zanetti, Glaucia ;

Souza, Carolina Althoff ;

Escuissato, Dante Luiz ;

Irion, Klaus Loureiro ;

Guimaraes, Marcos Duarte ;

Marchiori, Edson .

RESPIRATORY MEDICINE, 2015, 109 (03) :289-296

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