Introduction: Birt-Hogg-Dube syndrome is a rare and hereditary autosomal dominant condition, which is caused by mutations in the Folliculin gene. Folliculin is a protein found in cells and acts as a tumor suppressor. Birt-Hogg-Dube syndrome is characterized by noncancerous tumors of the skin, cancerous tumors of the kidneys and pulmonary cysts, which are the cause of primary spontaneous pneumothorax. Patients may exhibit from one to a combination of all three symptoms. The most commonly manifested are fibrofolliculomas and pulmonary cysts, which occur in 82–92% of the patients diagnosed with Birt-Hogg-Dube syndrome. The nurse plays an important role in treating the patient, identifying complications, and watching the patient after diagnosis. They educate the patient on the condition and thus help them deal with the syndrome and contribute to their better understanding of it. Purpose: The purpose of this thesis is to introduce the rare and hereditary Birt-Hogg-Dube syndrome, describe the development and subsequent treatment of spontaneous pneumothorax, cancerous tumors of the kidneys and fibrofolliculomas, and to emphasize the role of nurses who treat patients that show different symptoms of the Birt-Hogg-Dube syndrome. Methodology: A descriptive method was applied for the means of the thesis, with a critical analysis of Slovenian and English scientific and specialised literature, using of CINAHL and Medline databases. Collections of scientific papers, books and specialised textbooks have also been used in the research, together with Google scholar and foreign specialised web pages. There were 42 English and 12 Slovenian relevant sources. Discussion and conclusion: When it comes to fundamental needs of human the most common nursing problems with Birt-Hogg-Dube patient's are: breathing normally, avoiding dangers in the environment and avoiding injuring others, keeping the body clean and well groomed, protecting the integument, communicating with others, maintaining relationships, and expressing emotions. We have concluded that the condition is extremely rare and under-researched, mainly due to the small number of patients with the condition. Educating health professionals is crucial, as it would help them to identify the hereditary condition in time and contribute to a better outcome of the treatment, reduce complications during treatments, and assure a better quality of life for the patients. Educating nurses, who are constantly by the patient's side, would greatly decrease the number of undetected cases with Birt-Hogg-Dube syndrome.
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