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Birt-Hogg-Dubé syndrome: a large single family cohort.
Respir Res. 2016 Feb 29; 17:22.RR

Abstract

BACKGROUND

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort described to date. Primary objectives were to characterize cystic lung changes on computed tomography (CT) chest scanning and identify features that stratify patients at higher risk of pneumothorax. Secondary objectives entailed description of the following: type and natural history of BHD-associated pneumothorax, pulmonary function characteristics, and relationship between cystic lung changes and pulmonary function.

METHODS

The study was a retrospective chart review for a case series of a single family. Over 70 family members of a proband with documented BHD were identified, 68 of which consented to genetic testing. All those with confirmed BHD were offered a clinical assessment by the Medical Genetics and Pulmonary services which included a history, physical exam, complete pulmonary function tests, and computed tomography (CT) scan of the chest and abdomen.

RESULTS

Thirty-six individuals had a heterozygous mutation in the FLCN gene (c.59delT). Of these, 100 % (28/28) had pulmonary cysts, 41 % (13/32) had spontaneous pneumothoraces, 26 % (8/31) had kidney cysts, 3 % (1/31) had renal tumors, and 53 % (18/34) had dermatologic manifestations. Recurrent pneumothoraces were common (40 %). Cyst size (OR 3.23, 95 % CI 1.35-7.73) and extent of lower lung zone disease (OR 6.43, 95 % CI 1.41-29.2) were the only findings associated with pneumothorax. The size or extent of cystic disease did not correlate with lung function results.

CONCLUSIONS

This is the largest single family cohort of patients with BHD syndrome documented to date. We found that all individuals had pulmonary cysts, pneumothoraces were common, and cyst size and lower lobe predominant disease were associated with pneumothorax. Lung function was generally preserved and not affected by a high cyst burden.

Authors+Show Affiliations

Department of Medicine, University of Calgary, Calgary, AB, Canada. kate.skolnik@albertahealthservices.ca.Department of Medicine, University of Calgary, Calgary, AB, Canada. tsai@ucalgary.ca. Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. tsai@ucalgary.ca.Department of Medical Genetics, University of Calgary, Calgary, AB, Canada. kimberly.dornan@alberathealthservices.ca.Department of Medical Genetics, University of Calgary, Calgary, AB, Canada. renee.perrier@albertahealthservices.ca.Department of Diagnostic Imaging, University of Calgary, Calgary, AB, Canada. paul.burrowes@albertahealthservices.ca.Department of Medicine, University of Calgary, Calgary, AB, Canada. wdavidso@ucalgary.ca. Department of Community Health Sciences, University of Calgary, Calgary, AB, Canada. wdavidso@ucalgary.ca.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26928018

Citation

Skolnik, Kate, et al. "Birt-Hogg-Dubé Syndrome: a Large Single Family Cohort." Respiratory Research, vol. 17, 2016, p. 22.
Skolnik K, Tsai WH, Dornan K, et al. Birt-Hogg-Dubé syndrome: a large single family cohort. Respir Res. 2016;17:22.
Skolnik, K., Tsai, W. H., Dornan, K., Perrier, R., Burrowes, P. W., & Davidson, W. J. (2016). Birt-Hogg-Dubé syndrome: a large single family cohort. Respiratory Research, 17, 22. https://doi.org/10.1186/s12931-016-0339-2
Skolnik K, et al. Birt-Hogg-Dubé Syndrome: a Large Single Family Cohort. Respir Res. 2016 Feb 29;17:22. PubMed PMID: 26928018.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Birt-Hogg-Dubé syndrome: a large single family cohort. AU - Skolnik,Kate, AU - Tsai,Willis H, AU - Dornan,Kimberly, AU - Perrier,Renée, AU - Burrowes,Paul W, AU - Davidson,Warren J, Y1 - 2016/02/29/ PY - 2015/06/19/received PY - 2016/02/19/accepted PY - 2016/3/2/entrez PY - 2016/3/2/pubmed PY - 2016/11/3/medline SP - 22 EP - 22 JF - Respiratory research JO - Respir Res VL - 17 N2 - BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. The syndrome arises from germline mutations in the folliculin (FLCN) gene. We present findings from the single largest family BHD cohort described to date. Primary objectives were to characterize cystic lung changes on computed tomography (CT) chest scanning and identify features that stratify patients at higher risk of pneumothorax. Secondary objectives entailed description of the following: type and natural history of BHD-associated pneumothorax, pulmonary function characteristics, and relationship between cystic lung changes and pulmonary function. METHODS: The study was a retrospective chart review for a case series of a single family. Over 70 family members of a proband with documented BHD were identified, 68 of which consented to genetic testing. All those with confirmed BHD were offered a clinical assessment by the Medical Genetics and Pulmonary services which included a history, physical exam, complete pulmonary function tests, and computed tomography (CT) scan of the chest and abdomen. RESULTS: Thirty-six individuals had a heterozygous mutation in the FLCN gene (c.59delT). Of these, 100 % (28/28) had pulmonary cysts, 41 % (13/32) had spontaneous pneumothoraces, 26 % (8/31) had kidney cysts, 3 % (1/31) had renal tumors, and 53 % (18/34) had dermatologic manifestations. Recurrent pneumothoraces were common (40 %). Cyst size (OR 3.23, 95 % CI 1.35-7.73) and extent of lower lung zone disease (OR 6.43, 95 % CI 1.41-29.2) were the only findings associated with pneumothorax. The size or extent of cystic disease did not correlate with lung function results. CONCLUSIONS: This is the largest single family cohort of patients with BHD syndrome documented to date. We found that all individuals had pulmonary cysts, pneumothoraces were common, and cyst size and lower lobe predominant disease were associated with pneumothorax. Lung function was generally preserved and not affected by a high cyst burden. SN - 1465-993X UR - https://www.unboundmedicine.com/medline/citation/26928018/Birt_Hogg_Dubé_syndrome:_a_large_single_family_cohort_ L2 - https://respiratory-research.biomedcentral.com/articles/10.1186/s12931-016-0339-2 DB - PRIME DP - Unbound Medicine ER -