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Nural Kiper M.D. Professor of Pediatrics Hacettepe University,Medical School

Nural Kiper M.D. Professor of Pediatrics Hacettepe University,Medical School 25-28 April-2007/ANTALYA. ADVANCES in CYSTIC FIBROSIS. Genetic Modifiers TGFB1,MBL,IL10,HLA2 ,. Hafif klinik. Ağır klinik. Clinical Findigs of Cystic Fibrosis ; * Age of patient,

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Nural Kiper M.D. Professor of Pediatrics Hacettepe University,Medical School

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  1. Nural Kiper M.D. Professor of Pediatrics Hacettepe University,Medical School 25-28 April-2007/ANTALYA

  2. ADVANCES in CYSTIC FIBROSIS

  3. Genetic Modifiers TGFB1,MBL,IL10,HLA2, Hafif klinik Ağır klinik

  4. Clinical Findigs of Cystic Fibrosis ; * Age of patient, * Genetic mutation, * Affected organs/systems, * Complications.

  5. Newborn period * History of CF in a sibling, * Meconium ileus,peritonitis * Neonatal cholestasis

  6. Infancy and Childhood Period *Failure to thrive * Huge,steaky stool * Recurrent pulm.infection * Anemia * Oedema * Pseudobartter syndrome * Rectal prolapse * Salty taste

  7. Cystic Fibrosis Presentation in Adulthood • Chronic cough,sputum • Sinusitis,nasal polyps • Clubbing • Recurrent chest infection • Recurrent pancreatitis • Biliary sirrosis • DIOS • DM • Infertility

  8. Diagnostic Tests • Elevated sweat chloride • Microbiological tests • CFTR gene mutations, • Abnormal nasal epithelial potential difference

  9. New Methods “Macroduct Coil”.................. Measurment of conductivite. • Cut-off levels Our Lab results:for confirmation-90 mmol/L : unlikely < 70 mmol/L Dr. GüzinCinel(Tez Çalışması 2006)

  10. Nasal Epithelial Potential Difference • Atypical forms, • Adulthood, • Infancy Period...(rectal ephithelial potential difference)

  11. Nasal Epithelial Potential Difference • H.U.M.S. Cystic Fibrosis .............>-36.9 Control.......... <-24.18 T J Pediatr 2004; Ergönül

  12. “ACFF Consensus Panel, 1998”; • the precence of one or more charecteristic phenotypic features, • a history of CF in a sibling, • a positive newborn screening test • + • elevated sweat chloride,or • identification of two CFTR gene mutation,or • abnormal nasal ephithelial potential difference

  13. Chronic sinopulmonary disease; • a. Persistent colonization/infection with sp.mic.or • b. Chronic cough,sputum production, • c. Persistent chest x-ray abnormalities, • d. Obstr. Airway disease,wheezing, • e. Nasal polyps,pansinusitis, • f. Digital clubbing.

  14. “CFF, NCFR, 2002”

  15. 2. Gastrointestinal and Nutritional Abnorm, a. Intestinal; Meconium ileusu,DIOS,rectal prolapse b. Pancreatic; Panckreatic insufficiency,recurrent pancreatitis,DM c. Hepatic; biliary cirrhosis d. Nutritional; failure to thrive,hypoproteinemia,oedema,

  16. 3. Salt-loss syndromes:acute salt depletion, (metabolic alcolosis.) 4. Male urological abnormalities resulting in obstructive azoospermia(congenital bilateral absence of vas deferens

  17. GENE THERAPY

  18. Gene Therapy • Vectors • Virus; • .Adenovirus • .AAV • Syntetic • vektor; • .Liposom • .Plazmyde

  19. CFTR correctors 4-PBA Milrinone İsoflavones 4-PBA 4-PBA Gentamisin G418 Milrinone İsoflavones İsoflavones Milrinone İsoflavones Milrinone

  20. MUCOLYTIC THERAPY * n=968 (çocuk ve erişkin), FVC >%40 * “Fuchs HJ. N Engl J Med 1994; 331: 637-642.”

  21. MUCOLYTIC THERAPY * n=968 (çocuk ve erişkin), FVC >%40 * “Fuchs HJ. N Engl J Med 1994; 331: 637-642.”

  22. 164 CF (>6 age) Study groupControl Hypertonik saline (%7) SF (%0.9’) 2X4 cc inhale, 48 wks 2X4 cc inhale, 48 wks

  23. . This study showed the benefits of long-term nebulized HTS in a multicenter,plecebo controlled trial.

  24. Pilot Study of Safety and Tolerability of Inhaled Hypertonic Saline in Infants With Cystic Fibrosis Padmaja Subbarao, MD, MSc, FRCP(C), Susan Balkovec, BSc, RRT, Melinda Solomon, MD, and Felix Ratjen, MD, PhD, FRCP(C)* Pediatr Pulmonology 2007

  25. . P.aeruginosa kolonizasyonu-TOBI (preservative free tobramisin)-Pari LC nebulizator * “Hodson ME. Eur Respir J 2002; 20: 658-64.” “Ramsey BW. N Eng J Med 1999; 340: 23-30.” %12 ↑ %12 ↑

  26. . P.aeruginosa kolonizasyonu-TOBI (preservative free tobramisin)-Pari LC nebulizator * “Hodson ME. Eur Respir J 2002; 20: 658-64.” “Ramsey BW. N Eng J Med 1999; 340: 23-30.” %12 ↑ %12 ↑

  27. Patients with chronic colonization with Pseudomonas) • Rapid effect,safety • Side effect;20% cough !!!

  28. INHALED CORTICOSTEROID • Inhaled steroids have been examined in small clinical trials and • have been showed no improve airway reactivity. Prescott WA, et al. Pharmacotherapy 2005;25: 556-73.

  29. . 41 patients(8-18 age), FEV1: 61% Azithromycin - placebo ;6 mths therapy Elevated FEV1`5.4% (p<0.05) Reduction in exacerbation,

  30. No side effect • Minimal improvement in PFT

  31. No side effect • Minimal improvement in PFT

  32. LEUKOTRIENE RECEPTOR ANTAGONISTS . CF Patients with allergic rhinitis/ asthma <5 age 4 mg 6-14 age 5 mg >15 age 10 mg Montelukast Prescott WA, et al. Pharmacotherapy 2005;25: 556-73.

  33. Antiinflamatuvar Tedavi Anti IL-8 Ab IL-10 LTB4 antagonisti Omega 3 yağ asit Pentoksifilin IF-γ “Konstan MW. Adv Drug Del Rev 2002;54:1409-23.”

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