Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

Abstract

history of chest problems although he smoked A family exhibiting spontaneous pneumo-20 cigarettes per day. Radiography of the chest thorax in a father and three offspring (two confirmed pneumothorax. He was treated with sons and one daughter) is described. The a chest drain and complete resolution occurred mode of inheritance is apparently auto-with no further episodes. His brother III.5 who somal dominant with two episodes of male was a non-smoker with no previous respiratory to male transmission in one family. The problems presented at the age of 21 to his age of onset varied by up to 13 years within general practitioner with acute shortness of the family. Isolated autosomal dominant breath. This resolved within 24 hours without pneumothorax appears to be a distinct intervention. Two months later he had a further clinical entity.episode of shortness of breath and a left sided (Thorax 1998;53:151-152) pneumothorax was diagnosed and confirmed by radiography. A chest drain was inserted and We describe a family with three affected maining unaffected siblings revealed no differ- Case report A 54 year old man was hired to work in a foundry in 1993. He had a 30 pack year history of smoking and no personal history of asthma Abstract or atopy. His job consisted of making cores The case history is described of a worker which involved frequent exposures to MDI. In who presented with a history suggestive March 1996 an accidental spill of a large volof reactive airways dysfunction syndrome ume of solvent containing MDI occurred in which occurred after an acute high level his work area. He was off duty during the spill inhalation of diphenylmethane diiso-and returned to work 48 hours later. There cyanate. Further exposure at work, at a was a strong and irritant smell in the plant and time when concentrations of isocyanates within one hour he experienced headache, sore Department of Chest were no longer "irritant", suggested oc-throat, cough, and chest tightness. Other workMedicine, cupational asthma; this diagnosis was con-ers in this area reported the same symptoms that

Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome

“…A history of smoking, height, male sex, and family history are known risk factors for sporadic SP (14). Most cases of SP are sporadic but familial cases have been reported (15)(16)(17)(18). Familial SP is genetically heterogeneous and various patterns of inheritance have been reported, including autosomal dominant (16,18), X-linked recessive (15) and autosomal recessive patterns (17).…”

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

“…[6][7][8][9][10][11]13 This can be explained as follows: It was reported by the individuals in this family while their family tree (genealogical research) was being formed that the women in this family circle had suffered from a number of miscarriages. However, no precise information could be received about genders of the infants that were lost through the spontaneous abortions.…”

“…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.…”

Fibulin-5 Protein Is Reduced in the Lung of Patients with Spontaneous Pneumothorax Who Are Under 25 Years Old

“…5) However, the mechanism of bulla formation remains unclear. It is reported that the development of blebs and bullae appear to be linked to a variety of factors, including distal airway inflammation, 14) hereditary predisposition, 15) ectomorphic physiognomy with more negative intrapleural pressures 16) and apical ischemia, 17) and abnormal connective tissue. 18,19) However, there are many patients with PSP without these risk factors.…”