Pneumothorax in two siblings: Is there a genetic basis for recurrence?

Henderson, John; Narayan, Pradeep; Smithson, Sarah; Morgan, Anthony

doi:10.1016/j.jtcvs.2008.03.019

Cited by 1 publication

(1 citation statement)

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“…Although, to our patient’s knowledge, no previous episodes of pneumothorax had occurred in herself or in her relatives, the quick succession of all three episodes of pneumothorax - crowded within one month instead of years as for typical recurrences - strongly suggests a genetic predisposition to distinctive reactions of the pulmonary tissues, even though the underlying molecular defect remains only presumed. Moreover, genetic factors have been proposed as responsible for ordinary recurrences when located on the controlateral side [22]; in our case, a pattern of ipsilateral and controlateral respiratory incidents was observed. Primary spontaneous pneumothoraces (PSPs) may occur in patients with a variety of inherited disorders, such as metabolic disorders ( e.g .…”

Section: Discussionmentioning

confidence: 57%

A combination of predispositions and exposures as responsible for acute eosinophilic pneumonia

Amiconi

Hirl

2014

Multidiscip Respir Med

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BackgroundAcute eosinophilic pneumonia (AEP) is a rare febrile illness which is characterized by respiratory failure and often requires mechanical ventilation. The causes and sequence of events of this disease at a biochemical and histological level remain largely unknown. In this article we report the exceptional case, possibly unique, of a patient who developed AEP and three pneumothoraces within less than one month during her hospitalization.Case presentationA 39-year-old German woman was admitted to our hospital for a laparoscopy-assisted vaginal hysterectomy under general anaesthesia. The surgical intervention was followed by peritonitis in the early postoperative course. Following anaesthesia induction with propofol/midazolam and during the prolonged therapy with several broad-spectrum antibiotics, she developed AEP and three spontaneous (one left-sided and two right-sided) pneumothoraces, the latter ones observed in quick succession. Symptoms, laboratory markers, and chest radiology significantly improved after a one-day treatment with methylprednisolone.ConclusionsOn the whole, these pathological occurrences, together with similar cases reported in literature, can support the conclusion of possible predisposing genetic factors at the lung tissue level of AEP patients, a view that might shed new light on the pathogenesis of this disease. To provide a coherent pattern that explains the reported evidence for AEP and pneumothoraces, independently from the causative stimulus, the supposed molecular mutations could be localized in the connective tissue rather than in the epithelial cells. In order to interpret clinical and laboratory evidence, as well as to support the main conclusions, the important part of scientific research here presented can also assist physicians in making more informed decisions for the treatment of patients with pulmonary infiltrates.

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Section: Discussionmentioning

confidence: 57%