First Description of Bilateral Lung Transplantation in Patient with Birt-Hogg-Dubé Syndrome: A Case Report and...

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disorder associated with mutations in the Foliculin gene (FLCN), characterized by skin lesions, renal tumors (often malignant or leading to malignancy), and lung cysts, often leading to spontaneous pneumothorax. Lung function is generally preserved in these patients, which is why lung transplantation (LTx) has not been performed in this population to date. Below, we present the case of a 15-year-old boy with BHDS, with extensive cystic lung disease, complicated by recurrent pneumothorax (requiring pleurodesis) and, in his case, progressive respiratory failure, who ultimately underwent double sequential lung transplantation (DLTx). Postoperative management included treatment of humoral rejection and treatment of SARS-CoV-2 infection, in addition to typical immunosuppression. To our knowledge, this is the first DLTx for BHDS reported worldwide. The patient underwent a double lung transplant due to a life-threatening recurrent pneumothorax. This case highlights the importance of multidisciplinary care and demonstrates the feasibility of transplantation in advanced cases of BHDS (despite prior pleurodesis).