ΒΑΡΕΙΑ ΧΡΟΝΙΑ ΟΥ∆ΕΤΕΡΟΠΕΝΙΑ

of 52 /52
ΒΑΡΕΙΑ ΧΡΟΝΙΑ ΟΥ∆ΕΤΕΡΟΠΕΝΙΑ Εγχειρίδιο για τους ασθενείς και τις οικογένειες τους Από τη ∆ιεθνή Οµάδα Καταγραφής της Βαρειάς  Χρονίας Ουδετεροπενίας (Severe Chronic Neutropenia International Registry, SCNIR)  Συγγραφείς Audrey Anna Bolyard,R.N., B.S. Tammy Cottle Carole Edwards, R.G.N/R.S.C.N., Bsc. Sally Kinsy, M.D. Beate Schwinzer, Ph.D. Cornelia Zeidler, M.D.  Μετάφραση Ελένη Α Παπαδάκη, M.D., Ph.D. Eπίκουρη Καθηγήτρια Πανίου Κρήτης 

Embed Size (px)

description

Εγχειρίδιο

Transcript of ΒΑΡΕΙΑ ΧΡΟΝΙΑ ΟΥ∆ΕΤΕΡΟΠΕΝΙΑ

  • (Severe Chronic Neutropenia International Registry, SCNIR)

    Audrey Anna Bolyard,R.N., B.S. Tammy Cottle

    Carole Edwards, R.G.N/R.S.C.N., Bsc. Sally Kinsy, M.D.

    Beate Schwinzer, Ph.D. Cornelia Zeidler, M.D.

    , M.D., Ph.D. E /

  • (Severe Chronic Neutropenia International Registry, SCNIR)

    Audrey Anna Bolyard,R.N., B.S. Tammy Cottle

    Carole Edwards, R.G.N/R.S.C.N., Bsc. Sally Kinsy, M.D.

    Beate Schwinzer, Ph.D. Cornelia Zeidler, M.D.

    , M.D., Ph.D. E /

  • 1 2 4 6 7 12 SHWACHMAN-DIAMOND 13 1 14 15 15 16 17 17 18 18 19 19 20 (G-CSF) 20 23 23 25 25 26 26

  • 28 34 35 41 43

  • (Severe Chronic Neutropenia, SCN) . . . / . . , , . , (internet). (Severe Chronic Neutropenia International Registry, SCNIR). , SCNIR, 1994 - AMGEN. 1 2000, SCNIR - . - SCNIR . Debra Scarlata . Carol Fier AMGEN - . , / . , , 43.

    1

  • . , . . , , , . . - . , , . , . ( 1). :

    ,

    .

    , .

    , . : , , .

    2

  • .

    1. , . , . 3 - 120 . . - . . - ( 23).

    3

  • . - , - . . - ( 2) , . , .. . -, , . .

    ()

    ()

    ()

    2. . 4

  • . 1500 7000 (mm3) (1.5-7.0 x 109/l). 6 -. - :

    , - 1500 mm3 (1.5 x 109/l) 1000 mm3 (1.0 x 109/l)

    , - 500 mm3 1000 mm3 (0.5 x 109/l - 1.0 x 109/l)

    , - 500 mm3 (0.5 x 109/l).

    , , . . . . , , -, , o-. 38.50C . - , - .

    5

  • - . , , (.. ).

    ( ) ( ). - . - .

    : ( Kostmann)

    : Shwachman-Diamond 1

    . 6

  • KOSTMANN Kostmann, . . , . ( 3)

    3. Kostmann

    (

    ( . K

    . - . , , , , - . .

    , . - - .

    7 )

    (

    ()

    ostmann)

    () ( )

  • , - , , , . . - ( - , 17). , ( 4) -, - (granulocyte-colony stimulating factor, G-CSF), SCNIR, ..

    4. - () - (). - . , -. , - ( 5). 8

  • .

    5. ( -) 22 , - (: , :), . , , 7. - . G-CSF , . - . .

    , - G-CSF ( filgrastim leno-grastim). G-CSF - AMGEN 1987

    9

  • Kostmann. , .. , . , - G-CSF, . -, , , , . , - . G-CSF . . G-CSF, , - G-CSF . , - . , , -. - G-CSF 1000/mm3 (1.0 x 109/l). , . G-CSF . G-CSF. G-CSF , 20. 10

  • G-CSF. 100 mcg/kg 14 , . . 10 , 700 . ( 9%), , . , , . . , , ( ). . ( ) . , , .. . . , , .

    11

  • . , 21 . - - ( 6). - . . G-CSF G-CSF

    6. ( x 1000) - G-CSF. -, .

    , 3 , . 12

  • ( 3 6 -) - . 200/l (0.2 x 109/l) 3 . , , ( , ) . . , , , . , . . , . , - . Kostmann, - G-CSF. SHWACHMAN-DIAMOND -, - Shwachman-Diamond (Shwachman-Diamond syndrome, SDS). - -

    13

  • ( , ), -, . - . - , (). - , , . SDS -, . , - G-CSF . - - . .. / . Kostmann, SDS . SDS . 1 1 -6-. , . 14

  • , , , . - . . G-CSF . - . , , . -, - . - - . G-CSF -. ( , ) 6 4 , , . . .

    15

  • , . , G-CSF . . G-CSF. 2-3 . ( 20-40 ), , . , . - - - . - : Fanconi 16

  • , , .. , -IgM , . , , . H (.. ), , . , , , . . , , . -. , - . - , - . ,

    17

  • . , , 3 6 , . - - ( 15). , (- 4, 8). , , . . . - . . , , 18

  • . , , , . ( 11), . - - . , , - . . . Shwachman-Diamond ( 13) 1 ( 14), . . , , .

    19

  • : (G-CSF) , , ,

    , , .

    , - , . , , - . , . . - (G-CSF) G-CSF . G-CSF - , ( ), . - G-CSF. 20

  • G-CSF - , - . - , , - G-CSF, -, ( 3, 7). , , G-CSF - . G-CSF. G-CSF 1000 mm3 (1.0 x109/l), . , 5-20 (mcg/kg) . , , 120 mcg/kg/ ( ) 0.01 mcg/kg/. G-CSF, . G-CSF ( ) , , ( 7). , . , -

    21

  • . , . G-CSF - -. G-CSF -

    7. G-CSF. . . , -, G-CSF , , , , -, , , /, , (.. -). , . , - , G-CSF. , , - - ( 8).

    22

  • . - . - - . - . . - . , , . , . , - -, - . - , .. . . , . -

    23

  • : , . , , . . :

    , . , , - .

    : . .

    : 38.50C .

    - .

    / , .

    . .

    . , , . - SCNIR 31.

    24

  • . , , . , G-CSF . G-CSF, 4 10 - G-CSF . SCNIR G-CSF , -. 18 - G-CSF . G-CSF, . , G-CSF. . . , SCNIR

    25

  • . , . SCNIR . , , G-CSF . G-CSF . G-CSF , SCNIR . . , , G-CSF . , - . , , - , , . , , . 26

  • , , . , . , . . . . . . , , , , G-CSF. , , . . , . . , . .

    27

  • . , . . , , G-CSF. . ( ). . (Severe Chronic Neutropenia International Registry, SCNIR) 1994 , . , , . , . . 28

  • SCNIR: 1. 500 mm3

    (0.5 x 109/L) SCNIR ( G-CSF, 500 mm3 ). Shwachman-Diamond .

    2. . : 1. . 2. :

    ( Shwachman-Diamond 1) (Human Immunodeficiency Virus, HIV) , .

    3. ( 5 ) .

    : 1.

    . 2.

    G-CSF. 3.

    SCNIR /.

    29

  • SCNIR :

    .. .

    / :

    , , , , , , .

    .

    ,

    . SCNIR : :

    Dr. Mary Ann Bonilla, St. Barnabus Medical Center, West Orange, NJ, USA () Dr. Laurence Boxer, University of Michigan, Ann Arbor, MI, USA () Dr. Bonnie Cham, Manitoba Cancer Treatment & Research Foundation, Winnipeg, MB, Canada () Dr. David C. Dale, SCNIR Co-Director, University of Washington, Seattle, WA, USA () Melvin Freedman, Hospital for Sick Children, Toronto, ON, Canada ()

    30

  • Dr. George Kannourakis, Marian House, Ballarat, Victoria, Australia () Dr. Sally Kinsey, St James's University Hospital, Leeds, West Yorkshire, UK ( ) Dr. Bertrand Liang, Amgen, Inc., Thousand Oaks, CA, USA () Prof. Pier Giorgio Mori, Istituto Giannina Gaslini, Genoa, Italy () Prof. Karl Welte, SCNIR Co-Director, Medizinische Hochschule, Hannover, Germany ()

    (Local Laison Physicians):

    Dr. Tore Abrahamsen, Dept. Of Paediatrics, Rikshospitalet, Oslo, Norway () Dr. Yigal Barak, Kaplan Hospital, Rehovot, Israel () Dr. Marie Bruin, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands () Dr. Gran Elinder, Sdersjukhuset, Barnmedicinska kliniken, Stockholm, Sweden () Dr. Evaristo F. Feliu, Hospital Germans Trias i Pujol, Badalona, Spain () Prof. Andries Louwagie, A.Z. Sint Jan, Belgium () Dr. Gundula Notheis, Dr. von Haunersche Spitalklinik, Munich, Germany () Dr. Juan J. Ortega, Hospital Materno-Infantil Vall dHebron, Barcelona, Spain () Dr. Gert J. Ossenkoppele, Hospital Vrije Universiteit, Amsterdam, NL () Jan Palmblad, Huddinge University Hospital, Huddinge, Sweden () Dr. Helen Papadaki, University Hospital, Heraklion, Crete, Greece ()

    31

  • Dr. A.Y.N. Schouten-van Meeteren, Hospital Vrije Universiteit, Amsterdam, NL () Dr. Sonja Shukry-Schulz, St. Anna Kinderspital, Vienna, Austria () Dr. Owen Smith, Tallaght Hospital, Dublin, Ireland () Dr. Geir Tjonnfjord, Rikshospitalet, Oslo, Norway () Prof. Christiane Vermylen, U.C.L. St. Luc, Brussels, Belgium ()

    SCNIR :

    Severe Chronic Neutropenia International Registry Puget Sound Plaza 1325 4th Ave., Suite 620 Seattle, WA 98101 +1(206)543-9749*or (800)726-4463 (inside the U.S.) FAX +1(206)543-3668*

    Severe Chronic Neutropenia International Registry Medizinische Hochschule Hannover Kinderklinik D-30623 Hannover, Germany +49 (511) 557105* FAX +49 (511) 557106*

    32

  • Severe Chronic Neutropenia UK Registry Department of Paediatric Haematology & Oncology St Jamess University Hospital Leeds LS9 7TF +44 (113) 206-5939* FAX +44 (113) 247-0248* Cancer Research Centre University of Ballarat St. John of God Hospital 1002 Mair St Ballarat Victoria Australia 3350 +61 (353) 33-4811* FAX +61 (353) 33-4813*

    * + , . (WEB SITES)

    : http://depts.washington.edu/registry/ : http://freya.ballarat.edu.au:8080/~scnirau/

    33

  • , . . Neutropenia Support Association Inc. (800) 663-8876 ( ) Interessengemeinschaft Neutropenie Hannover +49 (4441) 911133* * + , . National Neutropenia Network, Inc. (800) 638-8768 ( ) Shwachman Syndrome Support (877) 737-4685 ( ) 34

  • : ; . - . ( Kostmann), - . - , . / . . , . , . , , . . : ;

    35

  • . , , - . : . ; , . . : , , . , , . ; . , , . . . , , , .. , . - . , , , . , , - , . 36

  • : ; G-CSF, . , , . , G-CSF . : G-CSF; G-CSF . : - . -. : G-CSF; SCNIR G-CSF . , G-CSF . : G-CSF ; G-CSF ..

    37

  • : G-CSF; , . A G-CSF . , , G-CSF . : 7 , , . G-CSF , . , . ; . , , (/) G-CSF. , / . : Kostmann 3 G-CSF. . ; . , , chlorhexidine. , , G-CSF . 38

  • : 27 . G-CSF 3 . . : ) ) . 50% . , . , , . G-CSF , G-CSF . G-CSF , . G-CSF (.. ). : ; , - .. , , , .

    39

  • : ; , , - , , . , , - . : ; . , , - . : ; SCNIR . SCNIR , , ( 32). , , . : ; SCNIR ( 32). 40

  • : : . . , . . . (DNA), . G-CSF. . . ,

    41

  • - . , , , , . . , - :

    (Severe Chronic Neutropenia International Registry, SCNIR). SCNIR (internet) : http://depts.washington.edu/registry/ 42

  • : . : . : . : . : . . : . : . : , , . . , , .

    : .

    : -

    43

  • 100. ( ) . 1800-7000/ mm3. : . : . : -. , , . - . : -. , Kostmann, . . : . .

    (Genetic engineering): .. G-CSF, .. , 44

  • ( G-CSF) . : . G-CSF: - (Granulocyte-Colony Stimulating Factor). : . : (human immunodefici-ency virus, HIV). AIDS (acquired immune deficiency sundrome). : . : .

    : . : . . : 150000 /mm3.

    : .

    45

  • : - ( ) ( ). Lenograstim: - G-CSF. : , , . . : . : , . : . : . : . .

    (Myelocathexis): - -. 46

  • : . , - (stem cells) - , , . : , - . . : . : . : . (stem cell): . : , , . : . : .. .

    47

  • : () . : . . : . : . : . : K . G-CSF: - G-CSF. -, , . Filgrastim: - G-CSF. : . : . . . : . 48

    2