On the inheritance of primary spontaneous pneumothorax

Abolnik, Igor Z.; Zlotogora, Joël; Brauer, Raphael

doi:10.1002/ajmg.1320400207

Cited by 72 publications

(57 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The lung cysts are reported to be round, to contain blood vessels, and to exist predominantly subpleurally, mediastinally, and in the lung bases and lower lobes (10). The round, thin-walled lung cysts in the present patient were located predominantly in the lower lobes, and these findings were compatible with the previous report.…”

Section: Discussionsupporting

confidence: 92%

See 1 more Smart Citation

Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings

Hayashi¹,

Takayanagi²,

Ishiguro³

et al. 2010

Intern. Med.

View full text Add to dashboard Cite

A 39-year-old woman presented with right-sided pneumothorax. Partial lung resection was done via thoracoscopy. Five years later, left-sided pneumothorax occurred, and she underwent thoracoscopy again. However, air leakage continued, and pleurodesis was performed. Although she had no skin eruptions or renal tumors, Birt-Hogg-Dubé (BHD) syndrome was suggested by radiographic findings. BHD gene analysis was performed, which revealed the BHD gene mutation. Reevaluation of pathological findings showed elastic fibers in the alveolar walls with fine granular changes and accumulation of macrophages. BHD syndrome should be considered in patients presenting with multiple pulmonary cysts with or without skin eruption, or kidney tumor.

show abstract

Section: Discussionsupporting

confidence: 92%

“…Although the patient with BHD syndrome may repeatedly develop pneumothorax, it is different than that in LAM in that pulmonary function is preserved, and the patient will not progress to respiratory failure (10). The present patient developed pneumothorax, so partial lung resection was performed.…”

Section: Discussionmentioning

confidence: 69%

Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings

Hayashi¹,

Takayanagi²,

Ishiguro³

et al. 2010

Intern. Med.

View full text Add to dashboard Cite

show abstract

“…Approximately 11.5% of patients presenting with spontaneous pneumothorax report a positive family history of the condition (1). Familial spontaneous pneumothorax (FSP) was initially reportedBHD syndrome (OMIM 135150) is a rare autosomal dominantly hereditary disease, which was firstly described in 1977 by Birt et al (8).…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax

Xing¹,

Liu²,

Jiang³

et al. 2017

J. Thorac. Dis.

View full text Add to dashboard Cite

“…5 There is not only genetic but also clinical heterogeneity in FPSP. [6][7][8] The clinical picture of the disease may come to light through the combinations of different organ and system involvements. 8 Although Koivisto and Mustonen reported that the autosomal recessive inheritance was responsible for the 2 cases with FPSP, most researchers hold the idea that the autosomal dominant inheritance responsible for FPSP.…”

mentioning

confidence: 99%

“…Even though the male gender is dominantly affected by FPSP, it can still be seen in both genders. 6,7,10,11 The aim of this study was to investigate the demographic, clinical, laboratory, radiological and hereditary characteristics of 8 PSP cases within an extended family in which frequent consanguineous marriages are seen.…”

mentioning

confidence: 99%

Autosomal Recessively Inherited Familial Primary Spontaneous Pneumothorax: A Large Family with Frequent Consanguineous Marriages

Dadaş¹,

Apaydin²,

Bayram³

2016

Turkiye Klinikleri Arch Lung

View full text Add to dashboard Cite

A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : The objective of this study is to determine the clinical and hereditary characteristics of Familial Primary Spontaneous Pneumothorax (FPSP) observed in a number of individuals within a large family. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : In the medical history of the patient, who applied to the Emergency Department due to a severe difficulty in breathing and was diagnosed with a bilateral Primary Spontaneous Pneumothorax (PSP) and received a bilateral tube thoracostomy performed by the pediatric surgery clinic, it was determined that there were 8 individuals in his family circle who had been affected by PSP disease. All the demographic, clinical, laboratory, radiological, and hereditary data of these individuals were collected. R Re es su ul lt ts s: : In the physical examination of the patients, there were incisional scars of tube thoracostomy and/or thoracoscopy and/or thoracotomy over the rib cages of 6 cases. While the other system examinations and laboratory findings were normal of all patients, seven of the cases have radiological changes at low-and mid-levels -in the lungs in the thoracic computerized tomography. Based on the drawn family tree, we suggest that the FPSP in this family occurred through autosomal recessive heredity. C Co on n--c cl lu us si io on n: : We believe that the PSP seen in this family is familial and transferred through autosomal recessive inheritance and the common consanguineous marriages within the family plays a role in the intensity of the disease. Further research on molecular level is required in order to better understand the precise genetic reasons that are lying under the developed FPSP disease of these eight patients.K Ke ey y W Wo or rd ds s: : Pneumothorax; genetic predisposition to disease Ö ÖZ ZE ET T A Am ma aç ç: : Bu çalışmanın amacı sık akraba evliliklerinin mevcut olduğu geniş bir ailede fazla sayıda bireyde gözlemlenen ailesel primer spontan pnömotoraks'ın (FPSP) klinik ve kalıtımsal özel-liklerini saptamaktır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : İleri derecede solunum sıkıntısı nedeniyle acil servise müracaat eden ve çocuk cerrahi kliniği tarafından bilateral primer spontan pnömotoraks (PSP) tanısı konarak bilateral tüp torakostomi uygulanan bir bireyin (İndex hasta) anamnez'inde ailesinde, PSP hastalığından etkilenen 8 bireyin mevcut olduğu saptandı. PSP'den etkilenmiş oldukları belirlenen bu bireylerin tüm demografik, klinik, laboratuvar, radyolojik ve kalıtımla ilgili verileri toplandı. B Bu ul lg gu ul la ar r: : Hastaların fizik muayesinde, 6 olguda sağ veya sol göğüs kafesi üzerinde tüp torakostomi ve/veya torakoskopi ve/veya torakotomi insizyon skarları mevcuttu. Diğer sistem muayeneleri ve laboatuvar bulguları normal iken, 7 olguda göğüs bilgisayarlı tomografide, akciğerlerde hafif ve orta düzeyde patolojik değişiklikler saptandı. Çizilen aile ağacına dayanarak bu ailedeki FPSP'ın otozomal resesif kalıtım ile geçtiğini öne sürebiliriz. S So on nu uç ç: : Söz ...

show abstract

On the inheritance of primary spontaneous pneumothorax

Cited by 72 publications

References 17 publications

Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings

Birt-Hogg-Dube Syndrome with Multiple Cysts and Recurrent Pneumothorax: Pathological Findings

Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax

Autosomal Recessively Inherited Familial Primary Spontaneous Pneumothorax: A Large Family with Frequent Consanguineous Marriages

Contact Info

Product

Resources

About