More on Familial Spontaneous Pneumothorax

Pierce, John A.; Suarez, Brian K.; Reich, Theodore

doi:10.1378/chest.78.2.263

Cited by 6 publications

(6 citation statements)

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“…In the survey of the literature we found 87 cases of spontaneous pneumothorax originating from 32 families [Atwood, 1926;Bachmann, 1940;Brock, 1948;Berlin, 1950;Boyd, 1957;Clarke, 1964;Delaney et al, 1974;Eriksson, 1965;Farber, 1921;Gotzsche, 1933;Ginzburg and Medvedovskii, 1976;Gibson, 1977;Hinson et al, 1981;Inoue et al, 1982;Kusan, 1925;Leites and Tannenbaum, 1960;Leman and Dines, 1973;Morawitz, 1933;Muler, 1934;Pierce et al, 1980;Rottenberg and Golden, 1949;Rodriguez, 1956;Rashid et al, 1986;Sharpe et al, 1980;Sugiyama et al, 1986;Taddei, 1968;Wilson and Aysworth, 19791. In 14 of these families sufficient details were given in order to allow construction of a pedigree (Fig.…”

Section: Methodsmentioning

confidence: 99%

On the inheritance of primary spontaneous pneumothorax

Abolnik¹,

Zlotogora²,

Brauer³

1991

Am. J. Med. Genet.

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We report on 15 families with familial primary spontaneous pneumothorax detected through a retrospective study of a large group of male patients. Genetic analysis of these families together with 14 families from the literature in which enough details were available suggested 2 possible models of inheritance. First, the familial cases are due to an autosomal dominant gene with incomplete penetrance, the penetrance being lower in females (21%) than in males (50%). Second, the familial cases represent a heterogeneous group of patients: some of the familial cases are due to an X-linked recessive gene and others to an autosomal dominant gene with the incomplete penetrance (35% in females and 50% in males). The second model may explain the excess of female carriers found in the families of the patients and is supported by the existence of clinical differences between the patients in each of the sub-groups. In particular the number of episodes of pneumothorax per patient was significantly higher in the sub-group with the autosomal dominant form than in the sub-group with the X-linked recessive form of the disease.

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Section: Methodsmentioning

confidence: 99%

On the inheritance of primary spontaneous pneumothorax

Abolnik¹,

Zlotogora²,

Brauer³

1991

Am. J. Med. Genet.

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“…Sharpe et al [8]initially showed a relationship between a certain HLA haplotype A2, B40, the α 1 -antitrypsin phenotype and occurrence of spontaneous pneumothorax in a family. Independent familial studies in spontaneous pneumothorax patients also suggested a possible contribution of the HLA haplotype [9, 10], but the actual mode of inheritance in association with the HLA-type remains controversial [11, 12, 13]. Six cases of spontaneous pneumothorax in monogerminal twins have been reported [3, 9, 10, 14, 15, 16].…”

Section: Discussionmentioning

confidence: 99%

Concurrent Left-Sided Spontaneous Pneumothorax in Japanese Monogerminal Twins

Tsukadaira

Okubo²,

Ôta³

et al. 2001

Respiration

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Monogerminal twin brothers aged 17 were admitted because of concurrent left-sided spontaneous pneumothorax. A familial background of this common disease in association with the human leukocyte antigen (HLA) has been suggested; however, the actual mode of inheritance in association with HLA typing is still uncertain. HLA analysis in this family revealed the HLA-A24, B61 (40), Cw3, DR4, DR53, and DQ3 haplotype in the twins and their father, who also had a medical history of spontaneous pneumothorax. We report these cases as an extremely rare example of familial occurrence of spontaneous pneumothorax.

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“…17 Previous authors have suggested autosomal dominant inheritance or an X-linked recessive pattern as an explanation for FSP, while others have found an HLA antigen association. 10,11,13 Spontaneous pneumothoraces occasionally occur in newborns and are typically associated with specific pulmonary problems. [18][19][20] They occur more frequently in males and are also more common in term or post-term infants.…”

Section: Case Reportmentioning

confidence: 99%

“…Based on prior studies, genetic analysis or HLA typing of the affected family members in our case may be helpful in determining a possible genetic link. 10,11,13 Thus far, we have been unsuccessful in pursuing the necessary investigations.…”

Section: Case Reportmentioning

confidence: 99%

“…Most of these reports have involved adolescents or adults, with male cases predominating. [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] The etiology of FSP in older children and adults is variable and includes pulmonary blebs, bullae, emphysematous changes in the lung, asthma, tuberculosis, Marfan's syndrome, and catamenial pneumothoraces. Reports of FSP in neonates are extremely rare and almost always involve an adult male relative.…”

Section: Introductionmentioning

confidence: 99%

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