: ,  , .  
  


 !

             2014               .             -       .

       .            .                   .   47     .       (2015, 2016),         (2013, 2015, 2016),     (2014-2016),  12-     (2015),  ,    ( . .. , 2014;  , 2015; , 2016;  , 2016).     8-9  2016 .

    . .. , . .. , . ..                ,          ,     ,     , , , ,    ,      .

 , . .. ,

. .. ,

. .. 







: ,  , .  



  : ,  , 



















  



 !

             2014               .                    .

       .            .                   .   47     .       (2015, 2016),         (2013, 2015, 2016),     (2014-2016),  12-     (2015),  ,    ( . .. , 2014;  , 2015; , 2016;  , 2016).     8-9  2016 .

    . .. , . .. , . ..                ,          ,     ,     , , , ,    ,      .

 ,



. .. , 
. .. , 
. .. 







 ()     ,   ,     7- ,   -      .      ,         (CFTR),                    ,           .

    ,   , - , ,  , ,  ,  .            (   90% ).        ,      ,           ,     .    (, , ),  ,    ,    ,   ,    .

                  .               .   5-         (),   ,  ,  ,   ,     .       ,       ,         .     ,  ,            .

                 :



 - (       ,   ; -         ).

           ,    .

         ,          .

      ,    . ,      ()      ,          ,      .


 ,       ,            .




 


    

   

     

  

  

  

   

   

, CBAVD        

     

   

1   

    

   

   

   

     

   

  - 

  - 

    

    

   

  - 

   

  

       

  

   

      

  -  

   

    

    

    

    

  - 

1   

    

    

     

    

    

    

1, FEV1      1- 

    

   

   

   

    

   - 

   

     

    

      

   

   

   

    

     

   

-2  -2

  

  

    

   

    

A. ilosoxidans  Achromobacter xylosoxidans

Bcc  urkholderia cepacia complex

BCSA  Burkholderia cepacia complex selective agar

CFA    

CFTR     

CGMS  Continuous Glucose Monitoring System

Cl   

DXA    

ECTS     

ESHG  European Society of Human Genetics     

ESHRE        

FDA  Food and Drug Administration

FE1    -1

HCO


   

HGVS  Human Genome Variation Society

IL-1  -1

IL-6  -6

IL-8  -8

IOF    

IQR    

ISCD      

M. tuberculosis  Mycobacterium tuberculosis

MAC  Mycobacterium avium complex

MALDI-TOF  Matrix Assisted Laser Desorbtion/Ionization Time of Flihgt

MRSA  -   

NCCLS       

NTM  Nontuberculous mycobacteria

P. aeruginosa  Pseudomonas aeruginosa

PEP  positive expiratory pressure

RANKL      -

S. aureus  Staphylococcus aureus

TNF-?     

Z-scores, SD   




1. 


  ,   ,          [1, 2, 3, 4, 5]:

     (  -  [1 -      ..,  .. (2000),    .])  E84.8.

       (   [2 -         (     , 2010).])  E84.0.

       [3 -       (.   .  )        ,       1     .             (.   ).]  E84.9.

,    CFTR[4 -       .]:

  ;

 ;

 .

         (  .  ..,  .., 2000)       (   ).



 :

    ( -10  E84.8.     ).           .     ..,  .. (2000)    .

            [2, 3].  E84.1          .

      ( -10  E84.0.     ).             ,     (    ,  -1    200 / ).      ,         (.   . -    (   )).     ..,  .. (2000)     .

        ( -10  E84.9.   ),      (Cystic Fibrosis Foundation)   CFTR-   (CFTR-related metabolic syndrome, CRMS).        ()    .       :



      (<30 /)      CFTR,          ,    -    ;

               CFTR.


,       3       [5, 6].

 CFTR-  (CFTR-related disorders)    ,      CFTR,          [2, 4, 7, 8, 9].              CFTR (.  -  CFTR- ).   .  -10     .

             (     , 2010).   ()          .    ,          80  .. /       45  ..



  :

1.  ( )   ,  .

2.  ( )   ,   (  ,   , /  ).

   :

1.      /;      (  ( <7,35)       ( >7,45)   );   .

2.      /;    (,   ,        );    / ,   .



   :






        - ,     .

             ,    -  (    17.12.2015  1024, http://www.invalidnost.com/ forum/3-3175-1),           ,  ,     (    -      ).

         (   ( ..,  .., 2000)       ,        05.07.2016  346       ,    -      - ,           17  2015 . 1024 (    28.07.2016 . 43018),        (   ).

      ,    -  (    17.12.2015  1024, http://www. invalidnost.com/forum/3-3175-1),                         ,  ,     ( ,   -      ) (      17.12.2015  1024) ( 1).

  :

1. ,    84.8,  F508del/F508del (   ), E84.8.   , .  (  S9, 10;   S4, 5).  0 .     .   Pseudomonas aeruginosa   2016.

  .  -   (2010, 2011).

:    , -  1 .

2. ,    E84.0.   , .    (S7-10).  1-2 .     .   .

  .    (  Pseudomonas aeruginosa   2013). Achromobacter spp.  2016.

: -  2 .

      ,      .

: F508del /  .

  /  .



.    (      ( ..,  .., 2000[5 -      ..,  .. (2000).]),      )




:

**         (     , 2010).         - ,     .

***       (.   .  )        ,       1     .             (.   ).

****       .

             ,    -  (    17.12.2015  1024, http://www.invalidnost.com/forum/3-3175-1),           ,  ,     (    -      ).





1. World Health Organization. Classification of cystic fibrosis and related disorders, Report of a Joint Working Group of WHO/ICF(M)A/ECFS/ECFTN, 2001 (reprinted in J. Cyst. Fibros. 2002; 1: 5-8).

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

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., Drev?nek 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. Munck A., Mayell S.J., Winters V., Shawcross A., Derichs N., Parad R., Barben J., Southern K W. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J. Cyst. Fibros. 2015; 14 (6): 706-713.

5. Ooi C.Y., Castellani C., Keenan K., Avolio J., Volpi S., Boland M., Kovesi T., Bjornson C., Chilvers M.A., Morgan L., van Wylick R., Kent S., Price A., Solomon M., Tam K., Taylor L., Malitt K.A., Ratjen F., Durie P.R., Gonska T. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics. 2015; 135 (6): 1377-1385.

6. LaRusch J., Jung J., General I.J., Lewis M.D., Park H. W., Brand R. E., Gelrud A., Anderson M.A., Banks P.A., Conwell D., Lawrence C., Romagnuolo J., Baillie J., Alkaade S., Cote G., Gardner T.B., Amann S.T., Slivka A., Sandhu B., Aloe A., Kienholz M.L., Yadav D., Barmada M.M., Bahar I., Lee M.G., Whitcomb D.C. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLOS Genetics. 2014; 10 (7): e1004376 (1-15).

7. Witt H. Chronic pancreatitis and cystic fibrosis. Gut. 2003; 52 (2): 31-41.

8.  ..,  .. .  .:     . . 6.  ..,  .., . .: , 2011: 94-107.




2. 


 

  ,       ,      ,   ,   ,     ,     ,         .        ,      ( ,      ) [1].

    :

I)     (      ) [2];

II)      [1]:



     ,     (. 2-4),        ;

          ;

    ,       ;


III)   ;

IV)  ;

V)  .



  

    ,       ,   ,             -     [3].

         -    10  [4, 5],  2013 .      (European Cystic Fibrosis Society)   Carlo Castellani       Alan R. Smyth  Scott Bell (https://www.ecfs.eu/ecfs-standards-care/introduction) (C 1).


 1.    ECFS, 2013 [6]



  

/

     CFTR  -[6 -      CFTR2,      SeqDBhttp://seqdb.med-gen.ru/      (   /).],   (  CFTR-2, http://www.cftr2.org)



 



       ,  (   ) ,   ,         (  ),   ,   ,   ()




I.  

  2006 .   ,    2007 .                  ,  .

           ()       ,    (90-95%),   .       5-10   1000  .               ,        ,       .        [7].

     3  : ,   (  96%,     99,8%) [8],   ( 2).       (4-5-    , 7-8-    )   .           22.03.2006 . 185        .    ,        .     ,               14 .       ,     [9].         21-28-  .     ,    8  ,             [10, 11].  ,             ,       .    [12].   -          21 ,   8 ,        (40 /).      8-       ,           .     ,   8 ,          .      ,        [13].         .



 2.        






 

         98%  [14]. -        - [15].                    Macroduct      Sweat-Chek,    Nanoduct  Vescor (),     .       ,          Macroduct.   ,             [16, 17, 18, 19, 20].       .                 -        [6].                  ,  -,    .  ,       ,     (, , , ,   .),        [16, 17].

        48      2  [21-23].     ,  , ,   .       30 ,      75  (15    Macroduct),       1 /


/ [9].       ,          .           .       ,    .

        (  -),   <30 /,    <50 /.        >60 /    >80 / (. 1) [9, 5, 17, 18, 23].



 1.    






   

     :

1.      ,   .

2.    .

3.     .

 ,       ( 3059 / /  50-79 /)     .

:



      ;  ;

  - ( );

  -   :  (     ),     ,   /     ,   ,  , ;

          .     ,     ;

                       [23, 24, 25],     .              .

        .




     

       ( 15%)   ( 12%) .        ,       [26].

       ,  ,   - ,      .            ,    -      CFTR,        (, 3849+10 kb C>T, 92) [27-29].

  ,          .                 [30].

  2  ,        .  ,      ,          .


 2.  ,         



    ()

   

 

  

  

  

  

  

   

 

 ,  II

  -6-

 

 

    ()

  

  

 

   

  

 

 


             .

   ,    ,    ,       ,            [9].



   -     :



     ( )    

    

     ( ,  ,  , .)

           


      ,           (.   . -   ).



   :



1.      .   .      ,     .

2.  ,     ,   CFTR,  ,  - (.   . -   ).   .      ,     .

3.  ,     ,     CFTR,  .  »   [28].     ,   ,    .       6-12 .,       .   CFTR.      .

4.  ,    ,   CFTR (         ).  »   [31].     .        6-12 ,    ,      (, ,   ).        -      .        . ,          .

5.  ,    .  . :  .    ,          1       .


,    3  4,           (CFSPID, CF Screen Positive, Inconclusive Diagnosis)       CFTR-   (CRMS, CFTR-related metabolic syndrome) (Cystic Fibrosis Foundation, ) (.   ) [31].   ,     ,     .                CFTR- ,           .         ,  ,     -,   .



  

       ,      ,    ,  ,  ,   ,  13-  18-  .           - ,        CFTR [32-33].     (PPV-positive predictive value), ..              ,   0,3 [6].



  

    (          , ..   )   95% [6, 9].



    ,     ,  :



     .      , ,         .          ;

        72     [13];

      ;

      .




           CFTR,                      .



    ,     

   :   8  [35].      ,    ,          .

          .       ,      / .           ,      (    15  2012 . 535              () http://legalacts.ru/doc/prikaz-minzdravsotsrazvitija-rossii-ot-15052012-n-535n/).

          2- ,     .                (  ).    ,          [9].

 :  3-    2 , 3-6   , 6-12   1   2 ,   .

    »     : - (  ), , ,        , -,      .      .

          ( , -),       (   ,   ,  ,    .)  »    .       ( , ,   ,    ).         .



II.    

       .              (CFTR),    (http://seqdb.med-gen.ru/),           ,      ,   -  ,        [1, 3, 4, 6, 29].   ,  ,      ,    ,    -,    (, ,   .).              CFTR,    ,  .            .  ,                      [37].

            ( 90%      ).  ,         .

      ,    ,          20062007 .,       ,     - ,  ,   ,      (. 3).


 3.       [1]

I.  



1.      ,  

2.  ,    

3.  , ,    P. aeruginosa

4.  


II.    - 



1.     

2.     

3.   

4.        

5.  

6.  

7.  

8.   


III.     



1.   

2.   

3.  

4.  

5.  

6.  -


IV.    



  ,   ,       (. 4). ,     ,        .         ,    ,   ..



 4.  ,   






  5         [1].     ,       ,        .      ,       ,        ,         ,      .


 5.        

0-2 



   

 

  /

  

  

  

 /

  -

   

  ,     K


3-16 



      

  

 

    

   

    

   , 

    






 /   

 

  

    

   

   

  

 

    




III.    

       ,     .                  (.   . -   ).



IV.  



 -      (.   . -   ).

      -      -   [37].  5078%           .           .           ,     ,        [38]. -                   .




V.   (.   . -   )

  :



1.  ,   8   ,    .

2.             .

3.           ?29 /   ,  <50 /  .

4.        .

5.             CFTR.

6.         CFTR         .

7.              -.

8.        ,     ,  2  .

9.                  - ,        .






1.  ..,  .., . . .: -, 2014. 672 .

2.  ..,  ..,  ..,  ..           .  . 2013; 11: 2429.

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., Drev?nek 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): 86102.

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): 414.

5. De Boeck K., Wilschanski M., Castellani C., Taylor C., Cuppens H., Dodge J., Sinaasappel M. Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61:627635.

6. Smyth .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 (   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): 6062.

8.  ..       :  . . . . ., 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., Frec 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): 153173.

10. Crossley J.R., Elliott R.B., Smith P.A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979; 311(8114): 472474.

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): 10011007.

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: 383387.

13. URL: www.newbornbloodspot.screening.nhs.uk (   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): 135153.

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: 892897.

16. Hall E., Lapworth R. Use of sweat conductivity measurements. Annals of Clinical Biochemistry. 2010; 47: 390392.

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): 358365.

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): 3441.

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): 10251034.

20. Barben J., Ammann R.A., Metlagel A., Sch?ni M.H. Conductivity determined by a new sweat analyzer compared with chloride concentrations for the diagnosis of cystic fibrosis. J. Pediatr. 2005; 146: 183188.

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: 6467.

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): 8589.

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): 414.

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: 823831.

25. Derichs N., Sanz J., Von Kanel T., Stolpe C., Zapf A., T?mmler 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): 594599.

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): 313338.

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): 705710.

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): 899903.

30. Hodson M., Geddes D., Bush A. Cystic fibrosis. Third edition. https://www.amazon.com/Cystic-Fibrosis-Third-Margaret-Hodson/dp/0340907584#reader_0340907584. (   31.12.2016).

31. Guidelines for the performance of the sweat test for the investigation of the CF in the UK. 2014. http:// www.rcpch.ac.uk/child-health/standards-care/clinical-guidelines-and-standards/endorsed-and-supported/respiratory-med#ACB (   31.12.2016).

32. Munck A., Mayell S.J., Winters V. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J. Cyst. Fibros. 2015; 14: 706713.

33. Gomez L.M., Patuzzo C., Castellani C., Bovo P., Cavallini G., Mastella G., Pignatti P.F. CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia. Pancreatology. 2001; 1 (5): 538542.

34. Castellani C., Picci L., Scarpa M. Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. AJMG. 2005; 135A (2): 142144.

35. Sermet-Gadelous I., Mayell S.J., Southern K.W. Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. J. Cyst. Fibros. 2010; 9 (5): 323329.

36. Sims E.J., Clark A., McCormick J., Mehta G., Connett G., Mehta A. United Kingdom Cystic Fibrosis Database Steering Committee. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy. Pediatrics. 2007; 119: 1928.

37.  ..,  ..,  ..,  ..,  ..,  ..,  ..     ,  ,   . . 2012; (6): 511.

38. De Oronzo M.A. Hyperechogenic fetal bowel: an ultrasonographic marker for adverse fetal and neonatal outcome? J. Prenat. Med. 2011; 5 (1): 913.




3. . -   *



 ()    ,    CFTR (ABCC7).  CFTR  27      31.1   7-  (7q31.1).        -        -  .                 ,     -   -   .




3.1.   


   CFTR      : -  39,61%;       15,60%; ,   , 11,36%; -  8,32%; /      1,99%;    0,75%;  ,   , 2,59%;   ()  13,30%;  ,     , 6,38%   [1].   de novo     7,    CFTR,  [2].


    CFTR    

    CFTR      (     ,    ;      ):



 . ,   : F508del, R553X, R1162X, 2184insA, 2184delA, CFTRdele2,3, 3120+1G>A, I507del, 1677delTA, G542X, G551D, W1282X, N1303K, 621+1G>T, 1717-1G>A, A455E, R560T, G85E, R344W, R347P, 711+1G>T, 711+3A>G (*), 1898+1G>A, S549N, 3849+10kbC>T, E822X, 1078T, 2789+5G>A, 3659delC, R117H-T5 (*), R117H-T7 (*), D1152H (*), L206W (*), TG13-T5 (*).

 . ,   CFTR- : R117H-T5 (*), R117H-T7 (*), TG13-T5 (*), TG12-T5 (*), D1152H (*), S977F, R297Q (*), L997F, M952I, D565G (*), G576A (*), TG11-T5 (**), R668C-G576A-D443Y, R74W-D1270N.

 .   ,    : I148T, R75Q, 875+40A/G, M470V, E528E, T854T, P1290P, 2752-15G/C, I807M, I521F, F508C, I506V, TG11-T5 (**).    ,   S1235R, I1027T, R31C, 7T, G576A, R668C, V754M, L997F, R1162L    ,        CFTR- .       CFTR2 [CFTR





  .


   .

   ,     (https://www.litres.ru/kollektiv-avtorov/mukoviscidoz-opredelenie-diagnosticheskie-kriterii-terap/)  .

      Visa, MasterCard, Maestro,    ,   ,     ,  PayPal, WebMoney, ., QIWI ,       .



notes



1


     ..,  .. (2000),    .




2


        (     , 2010).




3


      (.   .  )        ,       1     .             (.   ).




4


      .




5


     ..,  .. (2000).




6


     CFTR2,      SeqDBhttp://seqdb.med-gen.ru/      (   /).


