دورية أكاديمية
أعرض في EDS

Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.

التفاصيل البيبلوغرافية
العنوان: Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.
المؤلفون: Sriram JD; Department of Pulmonology, Rijnstate Hospital Arnhem, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands. jsriram@rijnstate.nl., van de Beek I; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands., Johannesma PC; Department of Pulmonology, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.; Department of Surgery, Gelderse Vallei Ziekenhuis, Willy Brandtlaan 10, 6716 RP, Ede, The Netherlands., van Werkum MH; Department of Radiology, Rijnstate Hospital, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands., van der Wel TJWT; Department of Pulmonology, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands., Wessels EM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands., Gille HJJP; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands., Houweling AC; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands., Postmus PE; Department of Pulmonology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands., Smit HJM; Department of Pulmonology, Rijnstate Hospital Arnhem, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands.
المصدر: BMC pulmonary medicine [BMC Pulm Med] 2022 Aug 26; Vol. 22 (1), pp. 325. Date of Electronic Publication: 2022 Aug 26.
نوع المنشور: Clinical Study; Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968563 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2466 (Electronic) Linking ISSN: 14712466 NLM ISO Abbreviation: BMC Pulm Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : BioMed Central, [2001]-
مواضيع طبية MeSH: Birt-Hogg-Dube Syndrome* , Cysts* , Lung Diseases* , Pneumothorax*, Cross-Sectional Studies ; Humans
مستخلص: Background: Birt-Hogg-Dubé syndrome (BHD) is an inherited disease caused by pathogenic variants in the FLCN gene. One of the characteristics is the increased risk for spontaneous pneumothorax, likely due to the presence of pulmonary cysts mainly distributed under the carina. Due to variable expression and lack of awareness, BHD is likely to be underdiagnosed. We aimed to examine the prevalence of BHD in patients presenting with an apparent primary spontaneous pneumothorax and to evaluate the contribution of chest CT in establishing the diagnosis.
Methods: Patients who presented with apparent primary spontaneous pneumothorax between 2004 and 2017 in a large Dutch teaching hospital were enrolled in this quantitative cross-sectional study. A questionnaire was sent to eligible patients. Patients who completed the questionnaire and consented to further participation were invited to visit the hospital for genetic testing and low dose, volumetric chest CT.
Results: Genetic testing was performed in 88 patients with apparent primary spontaneous pneumothorax. Three patients were found to have a pathogenic variant in the FLCN gene (3.4%). No variants of unknown significance were detected. Pulmonary cysts were detected in 14 out of 83 participants with an available chest CT, six had more than one cyst. All three patients with BHD had multiple pulmonary cysts.
Conclusions: Based on previous literature and the present study, we believe that performing a chest CT in every patient presenting with primary spontaneous pneumothorax is justified. Subsequent genetic testing of the FLCN gene should be considered when multiple pulmonary cysts are present.
Trial Registration: The study was registered at clinicaltrials.gov with reference NCT02916992. Three out of 88 patients with an apparent primary spontaneous pneumothorax were diagnosed with Birt-Hogg-Dubé syndrome in this study and all three had multiple pulmonary cysts. We believe that performing a chest CT in every patient with an apparent primary spontaneous pneumothorax is justified to identify underlying diseases.
(© 2022. The Author(s).)
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فهرسة مساهمة: Keywords: BHD; Birt-Hogg-Dubé syndrome; PSP; Pneumothorax; Primary spontaneous pneumothorax
سلسلة جزيئية: ClinicalTrials.gov NCT02916992
تواريخ الأحداث: Date Created: 20220826 Date Completed: 20220830 Latest Revision: 20220831
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9414409
DOI: 10.1186/s12890-022-02107-7
PMID: 36028846
قاعدة البيانات: MEDLINE
الوصف
تدمد:1471-2466
DOI:10.1186/s12890-022-02107-7