Balkan Journal of Medical Genetics

CASE REPORT OF A SUCCESSFUL PREGNANCY IN A CYSTIC FIBROSIS PATIENT WITH THE c.1521_1523delCTT/c.3718-2477C>T GENOTYPES
Spasova VL, Koleva LI, Toncheva DI, Karamisheva VI
*Corresponding Author: Victoria L. Spasova, M.D., Department of Medical Genetics, Medical University of Sofia, 2 Zdrave Str., 1431 Sofia, Bulgaria. Tel: +359-887-06-65-87. Fax: +359-9520-357. E-mail: vic.spasova@ gmail.com
page: 103

CASE REPORT

Our patient is a 30-year-old woman who had been suffering minor signs of the disease, infections and bronchial obstruction during infancy, with the diagnosis of CF not being confirmed until the age of 20. Genetic testing revealed she is a carrier of two different mutations: c.1521_1523 delCTT and c.3718-2477C>T. After genetic counseling, our patient’s partner was also tested. The CFTR panel for 95.0% of disease-relevant mutations in Bulgarian patients was used. No mutations were found. The symptoms of the patient include permanent cough with variable expectorations. She has at least two exacerbations a year that present with increased cough, increased dyspnea, fever, change in sputum, hemoptysis, laboratory and radiographic changes indicative of pulmonary infection. A wide variety of respiratory system changes occurred since the initiation of symptoms, drumstick fingers with clubbing of the nails, hyper-resonance at percussion, enlarged anterio-posterior diameter of the thorax, diminished vesicular murmur bilaterally, variable rales, and hemoptysis during menstruation. In 2008, she received diagnosis of chronic maxillary sinusitis and early stage bronchiectasis. As of 20 years of age, our patient has had a chronic infection with Staphylococcus aureus and Pseudomonas aeruginosa. In 2012, a second strain of P. aeruginosa was isolated. In addition, H. influenza, A. baumannii, S. maltophilia, and some less pathogenic bacteria, were also isolated from sputum. This led to treatment with wide range of injectable and oral antibiotics selected after antibiogram. As Aspergillus fumigatus was isolated from sputum samples, a long course of Variconasol had been added as part of the therapy. In 2006, she started permanent therapy with tobramycin inhalation solution (TOBI®) (for periods of 28 days on/off) that later was changed to tobramycin inhalation powder (TIP). From the beginning of 2016, she has been on Colistin therapy (for periods of 1 month on/off). Through the years, structural changes in the lungs became more apparent on CT scan and X-rays, interstitial fibrotic tissue, noticeable bronchiectasis and signs of hyperventilation. Although our patient had many exacerbations through the years, lung function remains stable [forced expiratory volume/1 second (FEV1) 92.0-99.0%, forced vital capacity (FVC) 93.0-105.0%). Liver and pancreas function are comparatively conserved and her nutrition status is satisfactory body mass index [(BMI) 19.36]. She had some complaints of gastro-esophageal reflux. Patient regularly takes Pancreatin, Sylimarin and Esomeprazole. Her blood glucose is within normal range. Our patient got pregnant for the first time in 2014. The pregnancy was terminated due to the long-term tobramycin treatment. Aminoglycosides are considered potentially ototoxic and nephrotoxic to the fetus and their use is an indication for pregnancy termination. Her second pregnancy was planned. At the time she got pregnant she had been on therapy with Dornase alpha, Colistin, and Acetylcysteine. Variconasol treatment was terminated 3 months before pregnancy. At 10 weeks’ gestation she was admitted to Pulmology Clinic at the Acibadem City Clinic, Tokuda Hospital, Sofia, Bulgaria, due to increased coughing, green sputum, fatigue, and rhinitis. S. aureus was cultured predominantly from the sputum sample. The therapy was prescribed after antibiogram. Amoxicillin/Clavulanic acid (1000 mg/8 hours for 14 days), Azithromycin (500mg /24 hours for 3 days, Cefuroxime (1.5 g/8 hours for 14 days), Dornase alpha, Colistin and Acetylcysteine. She was discharged from the hospital after 7 days in stable condition. This was her last exacerbation (December 2017). Her lung function remained stable during pregnancy (FEV1 >90.0%). She gave birth at term through a planned Cesarean section to a healthy child in June 2018. The patient and her child were in good condition immediately after birth. No postpartum complications were registered. The mother and the baby were discharged from the hospital after 5 days.

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