Evidence map›Paper›PMID 36028846›Full record

ArticleBMC pulmonary medicine2022

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

Jincey D Sriram, Irma van de Beek, Paul C Johannesma, Michiel H van Werkum, Tijmen J W T van der Wel, Elise M Wessels, Hans J J P Gille, Arjan C Houweling, Pieter E Postmus, Hans J M Smit

Registry-linked trialOpen access · goldAbstract readClinical Trial, Phase I
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pulmonary medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02916992 (Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With), which is not on this map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT02916992 phase1unknown statusnot on this map

Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax

TypeinterventionalSponsorHans SmitRan2016 to 2017Enrolled200ConditionsSpontaneous PneumothoraxArmsCT scan of the thorax, blood sample for FLCN mutation analyses
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Review
  4. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Jincey D Sriram *Department of Pulmonology, Rijnstate Hospital Arnhem, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands. jsriram@rijnstate.nl.ORCID http://orcid.org/0000-0002-3750-2296
Irma van de Beek *Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Paul C JohannesmaDepartment of Pulmonology, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Michiel H van WerkumDepartment of Radiology, Rijnstate Hospital, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands.
Tijmen J W T van der WelDepartment of Pulmonology, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Elise M WesselsDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Hans J J P GilleDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Arjan C HouwelingDepartment of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1118, 1081 HZ, Amsterdam, The Netherlands.
Pieter E PostmusDepartment of Pulmonology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Hans J M SmitDepartment of Pulmonology, Rijnstate Hospital Arnhem, Wagnerlaan 55, 6815 AD, Arnhem, The Netherlands.
Amsterdam University Medical Centers · NLRijnstate Hospital · NLLeiden University Medical Center · NLZiekenhuis Gelderse Vallei · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBirt-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.

methodsPatients 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.

resultsGenetic 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.

conclusionsBased 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 registrationThe 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.

Indexed as

Birt-Hogg-Dube SyndromeCystsLung DiseasesPneumothoraxCross-Sectional StudiesHumansBHDBirt-Hogg-Dubé syndromePneumothoraxPrimary spontaneous pneumothoraxPSP

Identifiers

PMID36028846
PMCPMC9414409
OpenAlexW4293199960

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.