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RETROSPECTIVE EVALUATION OF THE PATIENTS WITH CYSTIC FIBROSIS

RETROSPECTIVE EVALUATION OF THE PATIENTS WITH CYSTIC FIBROSIS. DR.LALE PULAT SEREN ZEYNEP KAMİL MATERNITY AND CHILDREN’S TRAINING AND RESEARCH HOSPITAL. CYSTIC FIBROSIS. The most common life-limiting inherited disorder Autosomal recessive genetic trait

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RETROSPECTIVE EVALUATION OF THE PATIENTS WITH CYSTIC FIBROSIS

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

  2. CYSTIC FIBROSIS • The most common life-limiting inherited disorder • Autosomal recessive genetic trait • Mutation of CF transmembrane regulator (CFTR) gene • 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.

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

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

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

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

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

  8. Results

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

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

  11. Clinical Manifestations of the Patients

  12. Radiological Results of the Patients

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

  14. 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. • 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

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

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

  17. CF patients required a multidisciplinary treatment protocol. • 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. • Culture appropiate antibiotics have to be choosen for acute exacerbations of chronic lung disease.

  18. Treatment methods administrated to our patients

  19. Conclusion • 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.

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