Муковисцидоз: определение, диагностические критерии, терапия. Национальный консенсус. Коллектив авторов

      Литература

      1. Капранов Н.И., Каширская Н.Ю., ред. Муковисцидоз. М.: Медпрактика-М, 2014. 672 с.

      2. Шерман В.Д., Капранов Н.И., Каширская Н.Ю., Кондратьева Е.И. Роль неонатального скрининга в оптимизации медицинской помощи больным муковисцидозом в РФ. Медицинская генетика. 2013; 11: 24–29.

      3. Bombieri C., Claustres M., De Boeck K., Derichs N., Dodge J., Girodon E., Sermet I., Schwarz M., Tzetis M., Wilschanski M., Bareil C., Bilton D., Castellani C., Cuppens H., Cutting G.R., Drevínek P., Farrell P., Elborn J.S., Jarvi K., Kerem B., Kerem E., Knowles M., Macek M. Jr., Munck A., Radojkovic D., Seia M., Sheppard D.N., Southern K.W., Stuhrmann M., Tullis E., Zielenski J., Pignatti P.F., Ferec C. Recommendations for the classification of diseases as CFTR-related disorders. J. Cyst. Fibros. 2011; 10(2): 86–102.

      4. Farrell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., Durie P.R., Legrys V.A., Massie J., Parad R.B., Rock M.J., Campbell P.W. 3rd. Cystic fibrosis foundation. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J. Pediatr. 2008; 153 (2): 4–14.

      5. De Boeck K., Wilschanski M., Castellani C., Taylor C., Cuppens H., Dodge J., Sinaasappel M. Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61:627–635.

      6. Smyth А.R., Bell S.C., Bojcin S., Bryon M., Duff A., Flume P., Kashirskaya N., Munck A, Ratjen F., Schwarzenberg S.J., Sermet-Gaudelus I., Southern K.W., Taccetti G., Ullrich G., Wolfe S. European cystic fibrosis society standarts of care working group. Best practice guidelines. J. Cyst. Fibros. 2014; 13 (1): 23-42. https://www.ecfs.eu/ecfs-standards-care/references (дата обращения – 31.12.2016).

      7. Dandona P., Hodson M., Bell J., Ramdial L., Beldon I., Batten J. C. Serum immunoreactive trypsin in cystic fibrosis. Thorax. 1981; 36 (1): 60–62.

      8. Кусова З.А. Эффективность программы массового обследования новорожденных на муковисцидоз: Автореферат дис. … канд. мед. наук. М., 2011.

      9. Castellani C., Southern K.W., Brownlee K., Dankert Roelse J., Duff A., Farrell M., Mehta A., Munck A., Pollitt R., Sermet-Gaudelus I., Wilcken B., Ballmann M., Corbetta C., de Monestrol I., Farrell P., Feilcke M., Férec C., Gartner S., Gaskin K., Hammermann J., Kashirskaya N., Loeber G., Macek M. Jr., Mehta G., Reiman A., Rizzotti P., Sammon A., Sands D., Smyth A., Sommerburg O., Torresani T., Travert G., Vernooij A., Elborn S. European best practice guidelines for cystic fibrosis neonatal screening. J. Cystic Fibrosis. 2009; 8 (3): 153–173.

      10. Crossley J.R., Elliott R.B., Smith P.A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979; 311(8114): 472–474.

      11. Rock M.J., Mischler E.H., Farrell P.M., Wei L.J., Bruns W.T., Hassemer D.J., Laessig R.H. Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels. Pediatrics. 1990; 85 (6): 1001–1007.

      12. Wilcken B., Brown A.R., Urwin R., Brown D.A. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants. J. Pediatr. 1983; 102: 383–387.

      13. URL: www.newbornbloodspot.screening.nhs.uk (дата обращения – 31.12.2016).

      14. Mishra A., Greaves R., Massie J. The Relevance of Sweat Testing for the Diagnosis of Cystic Fibrosis in the Genomic Era. Clin. Biochem. Rev. 2005; 26 (4): 135–153.

      15. Gibson L.E., Cooke R.E. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959; 129: 892–897.

      16. Hall E., Lapworth R. Use of sweat conductivity measurements. Annals of Clinical Biochemistry. 2010; 47: 390–392.

      17. Sands D., Oltarzewski M., Nowakowska A., Zybert K. Bilateral sweat tests with two different methods as a part of cystic fibrosis newborn screening (CF NBS) protocol and additional quality control. Folia Histochem. Cystobiol. 2010; 30; 48(3): 358–365.

      18. Sezer R.G., Aydemir G., Akcan A.B., Paketci C., Karaoglu A., Aydinoz S., Bozaykut A. Nanoduct sweat conductivity measurements in 2664 patients: relationship to age, arterial blood gas, serum electrolyte profiles and clinical diagnosis. J. Clin. Med Res. 2013; 5 (1): 34–41.

      19. Langen A.V.,. Dompeling E., Yntema J.B., Arets B., Tiddens H., Loeber G., Dankert-Roelse J. Clinical evaluation of the Nanoduct sweat test system in the diagnosis of cystic fibrosis after newborn screening. Eur J. Pediatr. 2015; 174 (8): 1025–1034.

      20. Barben J., Ammann R.A., Metlagel A., Schöni M.H. Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J. Pediatr. 2005; 146: 183–188.

      21. Eng W., Le Grys V.A., Shechter M.S., Laughon M.M., Barker P.M. Sweat-testing in pre-term and full-term infants less than 6 weeks of age. Pediatr Pulmonol. 2005; 40: 64–67.

      22. Legris V.A., Yankaskas J.R., Quittell L.M., Marshall B.C., Mogayzel P.J. Jr. Diagnostic sweat testing: The Cystic Fibrosis Foundation guidelines. J. Pediatr. 2007; 151(1): 85–89.

      23. Farell P.M., Rosenstein B.J., White T.B., Accurso F.J., Castellani C., Cutting G.R., Durie P.R., Legrys V.A., Massie J., Parad R.B., Rock M.J., Campbell P.W. 3rd. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J. Pediatr. 2008; 153(2): 4–14.

      24. Knowles M.R., Hohneker K.W., Zhou Z., Olsen J.C., Noah T.L., Ping-Chuanhu, Leigh M.W., Engelhardt J.F., Edwards L.J., Jones K.R., Grossman M., Wilson J.M., Johnson L.G., Boucher R.C. A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N. Engl. J. Med. 1995; 333: 823–831.

      25. Derichs N., Sanz J., Von Kanel T., Stolpe C., Zapf A., Tümmler B., Gallati S., Ballmann M. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax. 2010; 65 (7): 594–599.

      26. Servidoni M.F., Sousa M., Vinagre A.M., Cardoso S.R., Ribeiro M.A., Meirelles L.R., De Carvalho R.B., Kunzelmann K., Ribeiro A.F., Ribeiro J.D., Amaral M.D. Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility. BMC Gastroenterology. 2013; 20; 13 (1): 91.

      27. Webster H.L. Laboratory diagnosis of cystic fibrosis. Crit Rev Clin Lab Sci. 1983: 18 (4): 313–338.

      28. Wilschanski M., Zielenski J., Markiewicz D., Tsui L.C., Corey M., Levison H., Durie P.R. Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. J. Pediatr. 1995; 127 (5): 705–710.

      29. Stewart B., Zabner J., Shuber A.P., Welsh M.J., McCray P.B. Jr. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med. 1995; 151 (3 Pt1): 899–903.

      30. Hodson M., Geddes D., Bush A. Cystic fibrosis.