1. 1 RETROSPECTIVE EVALUATION OF THE PATIENTS WITH CYSTIC FIBROSIS DR.LALE PULAT SEREN ZEYNEP KAMİL MATERNITY AND CHILDREN’S TRAINING AND RESEARCH HOSPITAL

2. 2 CYSTIC FIBROSIS The most common life-limiting inherited disorder The most common life-limiting inherited disorder Autosomal recessive genetic trait Autosomal recessive genetic trait Mutation of CF transmembrane regulator (CFTR) gene Mutation of CF transmembrane regulator (CFTR) gene The most prevalent one among 1340 different mutations of CFTR is ΔF508 The most prevalent one among 1340 different mutations of CFTR is ΔF508 Variable involvement of the lungs, pancreas, intestinal tract, liver and sweat glands are presented. Variable involvement of the lungs, pancreas, intestinal tract, liver and sweat glands are presented.

3. 3 Chronic sinopulmonary disease Chronic sinopulmonary disease Chronic cough and sputum Chronic cough and sputum Wheezing Wheezing Nasal polyp Nasal polyp Digital clubbing Digital clubbing Gastrointestinal abnormalities Gastrointestinal abnormalities Intestinal-Diarrhea,obstruction Intestinal-Diarrhea,obstruction Liver - Chronic liver disease, cirrhosis Liver - Chronic liver disease, cirrhosis Nutrition – growth retardation Nutrition – growth retardation ●Male genitourinary abnormalities Infertility Infertility

4. 4 CF Incidence Incidence 1 / 2500 – 3500 in whites 1 / 2500 – 3500 in whites 1 / 2000 – 4000 in Turkish population 1 / 2000 – 4000 in Turkish population (Gürson et al., 1973) (Gürson et al., 1973) 1000 –1500 patients are estimated to be followed up for CF in Turkey. 1000 –1500 patients are estimated to be followed up for CF in Turkey.

5. 5 Material and Methods 23 CF patients followed between 1998-2003 were evaluated retrospectively 23 CF patients followed between 1998-2003 were evaluated retrospectively Diagnosis was confirmed at least two sweat test positivity (Cl > 60mEq/L) Diagnosis was confirmed at least two sweat test positivity (Cl > 60mEq/L) Pilocarpine iontophoresis was used for sweat testing. Pilocarpine iontophoresis was used for sweat testing.

6. 6 Material and Methods 10 female ( 43,4 %), 13 male (56,6 %) 10 female ( 43,4 %), 13 male (56,6 %) ( 23 patients ) ( 23 patients ) ● 2 patients were died (1 from hypovolemic shock due to gastroenteritis and 1 from cardiopulmonary insufficiency due to lung disease) (1 from hypovolemic shock due to gastroenteritis and 1 from cardiopulmonary insufficiency due to lung disease)

7. 7 Results Age range of the patients Age range of the patients 45 days – 11 months 45 days – 11 months ( median 5,5 months ) ( median 5,5 months ) Median age at the time of diagnosis Median age at the time of diagnosis 2,5 months -12 months 2,5 months -12 months ( median 6,4 months ) ( median 6,4 months )

8. 8 Results AGEn% 0 – 3 months 626 4 – 6 months 1043,5 7 – 9 months 313 10 – 12 months 417,5

9. 9 Results Consangineous marriage Consangineous marriage 66,2 % ( n = 15 ) 66,2 % ( n = 15 ) History of death sibling History of death sibling 21,7 % ( n = 5 ) 21,7 % ( n = 5 )

10. 10 Results The most common causes of hospitalization; The most common causes of hospitalization; - Recurrent pulmonary infection - Recurrent pulmonary infection - Gastroenteritis - Gastroenteritis - Growth retardation - Growth retardation

11. 11 Symptomsn% Weight loss or decreased weight gain 2086 Cough1774 Diarrhea1147 Vomiting1147 Wheezing939 Cyanosis28,6

12. 12 Clinical Manifestations of the Patients

13. 13 Radiological Results of the Patients

14. 14 Laboratory Findings n% Hyponatremia1669 Hypochloremia1356 Hypokalemia1252 Metabolic alkalosis 1356 Hypoalbuminemia1043 Anemia521 Hypocalcemia14,3 Hyperreninemia14,3 Hyperaldosteronism14,3

15. 15 Sweat chloride values (mEq/L) n% 60 – 80 730 81 – 100 834 101 and above 834

16. 16 Nasopharyngeal aspirate cultures were available in 10 patients and the identified bacterias were; Nasopharyngeal aspirate cultures were available in 10 patients and the identified bacterias were; S. aureus 2 cases S. aureus 2 cases P. aeruginosa 2 cases P. aeruginosa 2 cases H. influenza 1 case H. influenza 1 case □ Klebsiella sp. were grown in hemocultures of 2 patients.

17. 17 The diagnosis of CF is generally made in the first year of life. The diagnosis of CF is generally made in the first year of life. Abnormalities in the electrolyte content of sweat is presented from birth to death. Abnormalities in the electrolyte content of sweat is presented from birth to death. More than 60 mEq/L of chloride in sweat is pathologic and diagnostic for CF but threshold levels of 40 mEq/L for infants (esp. younger than 3 months) have been suggested. More than 60 mEq/L of chloride in sweat is pathologic and diagnostic for CF but threshold levels of 40 mEq/L for infants (esp. younger than 3 months) have been suggested. Beauchamp M. et al. Sweat Testing. Pediatr Pulmonol 2005;39:507-11 Beauchamp M. et al. Sweat Testing. Pediatr Pulmonol 2005;39:507-11

18. 18 Mutational heterogeneity and environmental factors appear responsible for highly variable organ involvement. Mutational heterogeneity and environmental factors appear responsible for highly variable organ involvement. Involvement of the respiratory tract is responsible 90 % of morbidity and mortality. Involvement of the respiratory tract is responsible 90 % of morbidity and mortality.

19. 19 Respiratory system GIS Consangineous marriage Karakoç et al 2002 90 % 83 % 39 % Göçmen et al. 1998 87 % 70 % - Our Study 82 % 50 % 66 %

20. 20 The most common sign of GIS is exocrine pancreatic insufficiency related steatorrhea. The most common sign of GIS is exocrine pancreatic insufficiency related steatorrhea. Malabsorbtion of fats and proteins are predominated. Malabsorbtion of fats and proteins are predominated.

21. 21 Respiratory system GIS Consangineous marriage Karakoç et al 2002 90 % 83 % 39 % Göçmen et al. 1998 87 % 70 % - Our Study 82 % 50 % 66 %

22. 22 Our Study Gastroesophageal reflux 5 % Iron deficiency anemia 21 % Failure to thrive 86 % Pseudo-Bartter Syndrome 5 %

23. 23 CF patients required a multidisciplinary treatment protocol. CF patients required a multidisciplinary treatment protocol. Chest physical therapy is the most important part of the treatment. Chest physical therapy is the most important part of the treatment. Inhaled hypertonic saline, N-acetylcysteine and DNase are used for the removal of viscouse secretions. Inhaled hypertonic saline, N-acetylcysteine and DNase are used for the removal of viscouse secretions. Culture appropiate antibiotics have to be choosen for acute exacerbations of chronic lung disease. Culture appropiate antibiotics have to be choosen for acute exacerbations of chronic lung disease.

24. 24 Treatment methods administrated to our patients

25. 25 Conclusion Life quality in CF has been progressively increased with early diagnosis and modern treatment methods, in recent years. Life quality in CF has been progressively increased with early diagnosis and modern treatment methods, in recent years. Since, consangineous marriages are common in our country, to form a standart national work-up programme is required. Since, consangineous marriages are common in our country, to form a standart national work-up programme is required.