No abstract

Birt - Hogg - Dubd (BHD) disorder is a rare inherited autosomal dominant disorder caused by germline mutations in the tumor suppressor gene FLCN, which encodes the protein folliculin. BHD disorder is characterized by benign skin hamartomas, kidney cancer, pulmonary cysts, and spontaneous pneumothorax. Currently, more than 600 cases of this disease have been described worldwide. Diagnosis of BHD disorder is based on clinical manifestations, family history, and genetic testing. We describe two patients (43 and 51 years old) who presented with a history of longstanding dyspnea and spontaneous pneumothorax. Based on the radiological characteristics and skin lesions, the patients were referred for genetic testing to confirm the diagnosis of BHD disorder.Aim. To study the current management of adult patients with BCD disorder. Timely diagnosis of BHD disorder has important preventive value because patients with this disease are at much higher risk for kidney cancer.Conclusion. The presented clinical cases demonstrate typical manifestations of BCD disorder with predominant involvement of the lungs and skin. The final diagnosis is confirmed by genetic testing of the coding sequence of the FLCN gene by direct automated sequencing. To date, there are no specific therapies for BCD disorder and treatment of the respiratory manifestations is limited to prevention and treatment of pneumothorax.

Prader — Willi syndrome (PWS) is a rate multisystem disease caused by a developmental disorder of the nervous system. The syndrome is associated with an imprinting defect, i.e. lack of expression of paternal genes on chromosome 15 q11.2q13.1. This genetic defect leads to cognitive and behavioral disorders; hypothalamic dysfunction; endocrine, cardiovascular, musculoskeletal, respiratory, and other disorders. PWS is the most frequent cause of hereditary obesity. In turn, the obesity causes the obesity-hypoventilation syndrome and respiratory failure.The aim of this article was to describe a clinical case of 28-year-old female who presented with acute hypercapnic respiratory failure.Conclusion. The patient was treated with respiratory support (non-invasive ventilation). The timely diagnosis and treatment of respiratory failure is important for the outcome as it can improve the patient’s quality of life and the life expectancy.