1. MAJOR EVENTS AND EVOLUTION IN CYSTIC FIBROSIS PATIENTS Author: Alexandra Martin Coordinator: Dr. Reka Borka Balas University of Medicine and Pharmacy Târgu- Mureş

2. INTRODUCTION Cystic fibrosis (CF) or mucoviscidosis, is the most common autosomal recessive disease among caucasians. Mutations in a gene on the long arm of chromosome 7, responsible for encoding and regulating clor transmembrane conductance regulator (CFTR). Deficiency of CFTR leads to clinical manifestations. Respiratory tract secretions are dehydrated. The extremely viscous mucus causes airway obstruction and secondarily infection. The mutation leads to chronic fat malabsorption and malnutrition.

3. CF GENETIC ETIOLOGY, PRENATAL COUNSELING AND NEONATAL SCREENING http://en.wikipedia.org/wiki/File:Autorecessive.svg

4. http://upload.wikimedia.org/wikipedia/commons/e/e1/Cystic_fibrosis_manifestations.png

5. OBJECTIVE Highlight the most important clinical manifestations of patients diagnosed with CF. Follow up of clinical evolution of CF patients.

6. MATERIAL AND METHOD Retrospective study between 2003 - 2013 on 22 cases diagnosed with CF in Pediatric Clinic 1 Târgu- Mureş. The data were analyzed with chi-square test.

7. MATERIAL AND METHOD FOLLOWED PARAMETERS Personal and family history. Clinical assessment: signs and symptoms. Laboratory evaluation. Interval between the occurrence of clinical manifestations and diagnosis. Number of hospitalization days.

8. FAMILY HISTORY OF CF PATIENTS

9. PATIENTS AVERAGE AGE AT CF DIAGNOSIS

10. SWEAT TEST

11. SWEAT TEST RESULTS

12. CLINICAL FORMS OF CF

13. MAIN RESPIRATORY SIGNS AND SYMPTOMS

14. REPEATED PNEUMONIA

15. MAIN DIGESTIVE SINGS AND SYMPTOMS

16. PATIENTS AGE AT ONSET OF FIRST SYMPTOMS

17. AVERAGE DAYS OF HOSPITALIZATION

18. PATIENTS ADHERENCE TO CF FOLLOW-UP

19. CONCLUSIONS Prenatal counseling is essential for carrier couples of CFTR mutation, or parents with children diagnosed with CF. Neonatal screening for CF should be a part of the early diagnosis of the disease, in order to establish a treatment to prevent the complications. Identifying the evocative signs and symptoms of the disease, ensures a proper and early diagnosis. The quality of life in patients with CF has improved significantly due to early diagnosis and treatment. Frequent and prolonged hospitalizations, the cost of chronic treatment. Patients low adherence to regular monitoring and to the reevaluation of general condition. Complications and lack of etiologic therapy, causes still low life expectancy of these patients.

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