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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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