Four new BHD case studies

Li et al., 2017 report two Chinese BHD patients with novel FLCN mutations (c.946-947delAG and c.770-772delCCT), a 54-year-old man and a 37-year-old man. Both had RCC and spontaneous pneumothorax without fibrofolliculomas and spontaneous pneumothorax on their family history. The incidence of fibrofolliculomas may be lower among Asian BHD patients compared with the higher incidence reported among patients from the United States and Europe.  In patients with RCC and pulmonary cysts but without cutaneous lesions, screening for mutations in the FLCN gene should be performed, especially for those with a family history of RCC or pulmonary cysts.

Castellucci et al., 2016 report the case of a patient with seven kidney tumours discovered after ultrasound performed for other reasons. Tumours were classified as multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. Genome analysis highlighted the FLCN mutation c. 1379_1380. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides of the lungs.

Wiyono et al., 2016 present the case of a 51-year-old Indonesian female presenting with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst. Her family history revealed that her mother had a history of renal tumour. Genetic testing detected a pathogenic FLCN mutation c.601C > T.

Monserrate et al., 2016 present the case of a 54-year-old male with a past medical history of spontaneous pneumothorax. Family history was significant for emphysema and pneumothorax. A chest CT confirmed diagnosis of pneumothorax, with severe bilateral bullous changes. Patient underwent bronchoscopy with placement of intra bronchial valves (IBVs). Because of persistent cough, IBVs were removed 3 weeks after discharge. During the follow-up, the patient achieved complete resolution of respiratory symptoms. Genetic testing revealed a FLCN gene mutation confirming BHD syndrome. This is the first case report in the literature on the use of IBV for the management of pneumothorax in BHD. IBVs are emerging as a new minimally invasive therapy to be considered in patients who develop spontaneous pneumothoraces with persistent air leaks and underlying lung disease leading to fewer surgical interventions and pleurodesis.

Case studies are freely available to download in the BHD Article Library: Clinical Research.

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