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Renal and Pulmonary Aspects of Birt-Hogg-Dubé syndrome
Johannesma, P.C.
2016
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Johannesma, P. C. (2016). Renal and Pulmonary Aspects of Birt-Hogg-Dubé syndrome.
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VRIJE UNIVERSITEIT
Renal and Pulmonary Aspects of
Birt-Hogg-Dubé syndrome.
PhD Thesis
Paul Christiaan Johannesma
Promotores: Prof. dr. P.E. Postmus
Prof. dr. R.J.A. van Moorselaar
Co-promotores: dr. F.H. Menko
dr. J.H.T.M. van Waesberghe
Title PhD thesis: Renal and Pulmonary Aspects of Birt-Hogg-Dubé syndrome.
Version: Review Committee
Promotores:
Prof. dr. P.E. Postmus
Department of Pulmonary Diseases, VU University Medical Center, Amsterdam, The Netherlands Department of Thoracic Oncology, Clatterbridge Cancer Centre, Liverpool Heart & Chest Hospital, University of Liverpool, Liverpool, United
Prof. dr. R.J.A. van Moorselaar
Department of Urology, VU University Medical Center, Amsterdam, The Netherlands
Co-promotores:
dr. F.H, Menko
Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands
dr. J.H.T.M. van Waesberghe
Review Committee:
Prof. dr. C.J.J. Mulder (Chairman)
Department of Gastroenterology and Hepatology, VU University Medical Center, Amsterdam, The Netherlands
Prof dr. ir. H.A. van Swieten
Department of Cardiothoracic Surgery, Radboud University Medical Center, Nijmegen, The Netherlands
Department of Cardiothoracic Surgery, HagaZiekenhuis, ‘s Gravenhage, The Netherlands
Prof. dr. M.P. Laguna
Department of Urological Oncology, Amsterdam Medical Center, Amsterdam, The Netherlands
dr. L.J. Meijboom
Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands
dr. M. Kets
Contents
Chapter 0.1.
General introduction and outline of the thesis.
Part one: Pulmonary manifestations.
Chapter 1.1
The pathogenesis of pneumothorax in Birt-Hogg-Dubé syndrome: a hypothesis.
Respirology. 2014 Nov;19(8):1248-50.
Chapter 1.2
Presence of pulmonary cysts in BHD patients with and without a pneumothorax; a retrospective analysis of 61 patients.
(Submitted).
Chapter 1.3
Radiological features of primary spontaneous pneumothorax patients with or without a mutation in
FLCN. (Submitted).
Chapter 1.4
How reliable are clinical criteria in distinguishing between Birt-Hogg-Dubé syndrome and smoking as a cause for pneumothorax?
Histopathology 2014;64(7)1045-6
Chapter 1.5
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.
Chapter 1.6
Prevalence of Birt-Hogg-Dubé syndrome in patients with apparently primary spontaneous pneumothorax.
Eur Respir J. 2015;45(4):1191-4.
Chapter 1.7
International guidelines for pneumothorax are not adequate for treatment of spontaneous pneumothorax in patients with Birt-Hogg-Dubé syndrome.
(Submitted)
Part two: Renal manifestations.
Chapter 2.1
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Br J Cancer. 2011;105(12):1912-9.
Chapter 2.2
Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
Fam Cancer. 2016;15(2):297-300
Chapter 2.3
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening, compliance and outcome.
(Submitted)
Part three: Relevant case reports and case series.
Chapter 3.1
In-flight pneumothorax: diagnosis may be missed because of symptom delay.
Am J Respir Crit Care Med. 2014;190(6):704-5.
Chapter 3.2
Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.
Chapter 3.3
Lung cysts as indicator for Birt-Hogg-Dubé syndrome.
Lung. 2014;192(1):215-6.
Chapter 3.4
Spontaneous pneumothorax as the first manifestation of a hereditary condition with an increased renal cancer risk.
Ned Tijdschr Geneeskd. 2009;153:A581.
Chapter 3.5
Facial fibrofolliculomas as indicator for renal cell cancer.
Jpn J Clin Oncol. 2014;44(6):609-10.
Chapter 3.6
Bilateral renal tumour as indicator for Birt-Hogg-Dubé syndrome.
Case Rep Med. 2014;2014:618675.
Chapter 3.7
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Fam Cancer. 2013;12(3):373-9.
Chapter 4.1
Summary of the thesis.
Chapter 5.1
