[Pneumothorax as an early indication for a genetic disorder].

Autor:	van Riel L; Amsterdam UMC, afd. Humane Genetica, Amsterdam.; Contact: Lore van Riel (l.vanriel@amsterdamumc.nl)., van de Beek I; Antoni van Leeuwenhoek, polikliniek Familiaire Tumoren, Amsterdam., Wolthuis RMF; Amsterdam UMC, afd. Humane Genetica, Amsterdam., Boerrigter BG; Amsterdam UMC, afd. Longziekten, Amsterdam., van Moorselaar RJA; Amsterdam UMC, afd. Urologie, Amsterdam., Houweling AC; Amsterdam UMC, afd. Humane Genetica, Amsterdam.
Jazyk:	Dutch; Flemish
Zdroj:	Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2023 Jun 22; Vol. 167. Date of Electronic Publication: 2023 Jun 22.
Abstrakt:	Background: Several hereditary disorders, with highly variable and sometimes difficult to recognize manifestations, can present with a spontaneous pneumothorax. Options to perform DNA-testing have changed rapidly, as a result of which physicians of diverse disciplines are coming into contact with hereditary disorders. Case Description: Two patients with a history of multiple spontaneous pneumothoraxes were seen at the outpatient clinic of the department of Clinical Genetics. Based on family history and physical examination, a suspicion of an underlying hereditary disorder arose. Birt-Hogg-Dubé syndrome and vascular Ehlers-Danlos syndrome were diagnosed through DNA-testing. Based on this, additional screening advices were given and DNA-testing became possible in the family. Conclusion: A spontaneous pneumothorax may be a manifestation of an underlying hereditary disorder. With attention to clinical symptoms and family history, physicians can contribute to timely diagnosis. In many cases this results in significant health benefits for both the patient and affected family members, such as screening for kidney cancer in the case of Birt-Hogg-Dubé syndrome.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu