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Genetic features and treatment of pulmonary diseases

Boryana Georgieva, Kaloyan Ivanov, Iskra Velichkova


Introduction: Development of medical genetics and technologies has a great impact on genetic dis­eases diagnostics. According to different researches, hereditary pulmonary diseases are a significant part, between 30-50%, of all respiratory problems in patients. The recognition of these conditions and their pathophysiology may facilitate the choice of treatment and its efficiency.

Materials and methods: This report represents three clinical cases of patients, diagnosed with hered­itary pulmonary diseases, admitted to the Respiratory Intensive Care Unit at University Hospital `St. Marina` (Varna, Bulgaria). All of them have been hospitalized several times in different pulmonary clinics with complaints of fever, cough and different degree of dyspnea.

Results: Present complaints of the patients were the same as the ones mentioned during the prior hospitalization. Patient no.1 was referred to a Computed Tomography (CT) scan which revealed tra­cheobronchomegaly. Although Alpha-1 antitrypsin deficiency test showed negative results, the work­ing diagnosis was Mounier-Kuhn syndrome. Having in mind this, he was prescribed a course with two antibiotics - Cefadime and Ciprinol, in combination with Methylprednisolone and Ventolin. The symptoms of patient no. 2 started when she was 7. Suspicion of Cystic Fibrosis was confirmed by ge­netic analysis of the CFRT gene. Sputum culture tests yielded Pseudomonas aeruginosa in 2016. The patient received treatment with Piperacillin/Tazobactam, Colistin, Bromhexine, Pulmozyme and Kreon. After physical examination and a CT scan of patient no.3, pectus carinatum and multiple cysts distributed in both lungs were found. Negative sweat test results confirmed the diagnosis - mul­tiple cystic lung disease. A scheme of Cefadime, Metronidazole, Levofloxacin and Bromhexine was prescribed. All three patients were discharged with improvement after the treatment.

Conclusion: These cases studies showed that knowing the symptoms of hereditary diseases can con­tribute to treatment of patients with respiratory tract diseases in order to increase their quality of life.


Mounier-Kuhn syndrome; cystic fibrosis; multiple cystic lung diseases



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