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CHAPTER 13  ■  Bone Marrow Failure Syndromes                                251




                                           m          m. H           ,            CDA                                                m        . M     m                              x              m

                               m PNH                                                                                                                               m    .

                                -               -I.             CDA      m                     CDA                                  I       m                                ,       m           x

                                                  q               m                      m              -                                                                                                             m        .

                                               .  M                                                      m -                   A                                                 m             z  m     x

                         ,                                                                                                                 m                                ,       m

                       m          m. A                                                 x    . I                                            . I                                   k          ,       m

                     m                                    ,           ,                              k                                                                                                                   ,

                                              m         .                                                                                                                                       .       m

                                                                                                                                                                      m                                              .
                   Physiology                                                                                                       M               m            m                                 m


                   T                                         m                                                                                                                            m      . T       m        -

                            . O                                                        ,                                          m             :

                                        , m                                                                                              m         (  ER  ),                                        z  m  ,

                                         m                   m         .  T               m       m                            ■               RNA m             (  ERC)              m

                                    k                                                                                                       ′                   m

                                                             . T               ’                                                   S            ,                         DNA-                         ,              -

                   m            m m                           m        . I                ,                                    ■                                 m

                             m               m                  m

                                   m        m                 m                       m                                             M                                                                    m

                                                                   m  .                                                           m                                                           m

                                                                                                                                              . T        m                                                   m
                   Laboratory Findings                                                                                         AML                                                   m                         m


                   I                                          ,                                                                                                        .        m                     m

                      m            ,    m           (               k                  m  ),                                                             x m                                                    q

                                                           k                                    . I                                              m    m                                    . P

                                                                    ,                   m           ,      ,                                     m                            m        k

                                                                     . I             m         x m -                           m                             m               . G                                   -

                                        m    ,                                                                                 q                                                       m                          q

                        k                       m                                          m                                   m                   .        m                                     mm               -

                        k     m                             .                                                                                                m    . P                  F           ’        m

                                                                                                                                  m                         m                   m                                 .
                   The Im pact of Telom eres                                                                                        O            ,        m


                   Im                                                                                                                          “           ”     m                     m       ,                    -

                                . R           ,           z          m                      m                                                                        m                          . M

                   RNA     m           ,   ERC,                           RNA     m                                                   , DKC  ,          m                                       . M

                            m        ,                                                  telomeres                                          m             m     x                               m     -

                                                    m                  m                                                          m    x (           )               m                                .

                       q             m                           . M                   ER   m                                       A    q               m                   m

                      k                m                   .                                                                      m              ,            x                   m                  m

                        I        m     ,        m                   x  m                         DNA                                                            m                           m               . S

                      q            (    AGGG                                         CCC  AA                                         m                                                                                -

                                               )                                                         x    m -              m     m                  .

                                              m     m   .        m

                           ,              m                                                                     -              Severe Congenital Neutropenia and Cyclic

                   m                  m                                  ,          ,                   m.                     Neutropenia

                         m                                                                             . T

                         f           ,       “      -                            m,”                  m                        S                                                (SCN)              m

                                                                         .        m                          -                                                                                       m              -

                                                                      DNA                                                                                                                                      z

                      m      . W                            ,       m                                     -                                                                           . S

                                  ,                   ,                                  ,       ,        PMS  .                                                                 x   . I                   , SCN

                   I                                                                                                                                                                                  . C

                                  ,   x    m                    m                                                                        m             m    m                                SCN. G

                         m     m                                 m             m     m               -                                           SCN                                   (              .  ).

                      .                         m                      ,                                       ,                    M                                                    SCN,

                          x  m     ,     m                   m              ,   x                  z  m  ,                        m                m                                                     m     . T
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