Daijiworld Media Network- London

London, Apr 8: In a groundbreaking revelation, scientists at the University of Cambridge have found that one in 3,000 people may carry a faulty gene that significantly heightens their risk of suffering a punctured lung, a condition medically known as pneumothorax.

The findings, published in the prestigious medical journal Thorax, are based on an extensive study involving over 550,000 individuals. Researchers identified a specific variant in the FLCN gene that predisposes carriers to Birt-Hogg-Dube (BHD) syndrome—a rare inherited disorder associated with benign skin tumours, lung cysts, and a heightened likelihood of kidney cancer.

While not all cases of punctured lungs are attributed to this gene defect, the study highlights that individuals diagnosed with BHD syndrome face a 37% lifetime risk of experiencing pneumothorax. Even among those who unknowingly carry the faulty FLCN gene but haven’t been diagnosed with the syndrome, the risk remains substantial at 28%.

Lead researcher Professor Stefan Marciniak expressed surprise at the study’s discovery that the likelihood of kidney cancer among undiagnosed FLCN gene carriers was significantly lower—only about 1%—compared to the 32% risk faced by those diagnosed with BHD syndrome. “There's clearly something else going on,” he remarked, suggesting the presence of additional contributing factors beyond the faulty gene.

Interestingly, the condition commonly affects tall, slender males in their late teens or early twenties, but researchers urge caution when it appears in older individuals. “If a person in their forties or beyond experiences a punctured lung, doctors should investigate further using MRI scans to check for cysts in the lower lungs, which may signal BHD syndrome,” added Prof Marciniak.

The positive news, however, is that symptoms such as a punctured lung often precede signs of kidney cancer by 10 to 20 years. This early window, researchers believe, offers a vital opportunity for regular screening and timely intervention.

Professor Marciniak stressed the importance of early diagnosis, particularly for family members of those carrying the gene. “By identifying individuals at risk early on, we can initiate yearly screenings and potentially catch kidney tumours while they are still treatable,” he said.

This study marks a significant step toward better understanding of the genetic underpinnings of lung-related disorders and paves the way for improved diagnostic and preventive healthcare strategies.