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Kinder- und Jugendmedizin 2014; 14(04): 219-226
DOI: 10.1055/s-0038-1629218
Hämatologie
Schattauer GmbH

Sichelzellkrankheit bei Kindern

Erste Daten aus WienSickle cell disease in childrenFirst report from Vienna
P. Zoubek
1   St. Anna Kinderspital, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Wien
,
W. Holter
1   St. Anna Kinderspital, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Wien
,
M. Minkov
1   St. Anna Kinderspital, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Wien
2   Krankenanstalt Rudolfstiftung der Stadt Wien, Abteilung für Kinder- und Jugendheilkunde, Wien
› Institutsangaben
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Publikationsverlauf

Eingereicht am: 16. Mai 2014

angenommen am: 20. Mai 2014

Publikationsdatum:
27. Januar 2018 (online)

    Lizenzen und Reprints

Zusammenfassung

Die Sichelzellkrankheit zählt zu den häufigsten Erbkrankheiten der Weltbevölkerung und tritt immigrationsbedingt seit Mitte des vergangenen Jahrhunderts vermehrt in Mittel-europa auf. Die Sichelzellkrankheit ist eine Multiorgankrankheit, die durch eine chronische Hämolyse, akute vaso-okklusive Ereignisse (u. a. Schmerzkrisen, akutes Thoraxsyndrom, Blutsequestration in der Milz und Leber, ischämischer Schlaganfall) und chronische Organschäden (u. a. Kardiomyopathie, Nephropathie, funktionelle Asplenie) gekennzeichnet und auch bei adäquater medizinischer Versorgung mit einer beträchtlichen Morbidität und Mortalität verbunden ist. Die Standardbetreuung besteht aus einer konsequenten Infektionsprophylaxe (Impfungen und täglicher Gabe von oralem Penicillin), Behandlung der akuten Ereignisse sowie Bluttransfusionen und Dauertherapie mit Hydroxyurea bei entsprechender Indikation. Die hämatopoetische Stammzelltransplantation stellt das einzige kurative Therapieverfahren für PatientInnen mit Sichelzellkrankheit dar.

Summary

Sickle cell disease is one of the most common genetic disorders worldwide and it came from endemic regions to central Europe along with migration processes during the last century. The disease is characterized by chronic hemolysis, acute vaso-occlusive episodes (e. g. pain crises, acute chest syndrome, ischemic stroke, sequestration of blood in the spleen and liver) and chronic organ damage (e. g. cardiomyopathy, nephropathy, functional asplenia). Even with adequate medical care sickle cell disease is still associated with significant morbidity and mortality. The standard of care includes infection prophylaxis (immunizations and oral penicillin), management of the acute events, as well as transfusions and continuous hydroxyurea when indicated. Hematopoietic stem cell transplantation is the only curative treatment option available to date.

Schlüsselwörter

Sichelzellkrankheit - Epidemiologie - akute Ereignisse - Komplikationen

Keywords

Sickle cell disease - epidemiology - acute events - complications
 

  • Literatur

  • 1 AUSTRIA S. Bevölkerung zu Jahresbeginn seit 2002 nach detailliertem Geburtsland. STATISTIK AUSTRIA 2012 [updated 14.05.2012; cited 2013 06.03.2013]. Available from: http://www.statistik.at/web_de/statistiken/bevoelkerung/bevoelkerungsstruktur/bevoelkerung_nach_staatsangehoerigkeit_geburtsland/index.html.
    Google Scholar
  • 2 Minkov M, Gadner H. Hämatologische Erkrankungen bei Migrantenfamilien. Arzt + Kind 2007; 4: 12-19.
    Google Scholar
  • 3 Lobitz S, Cario H. Sichelzellkrankheit. Kinder- und Jugendmedizin 2012; 12: 314-321.
    Google Scholar
  • 4 Dickerhoff R, von Rucker A, Maschmeyer G, Heimpel H. Problems of adult sickle cell patients in Germany. Dtsch Med Wochenschr 2009; 134: 1179-1184.
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 5 Thuret I, Sarles J, Merono F. et al. Neonatal screening for sickle cell disease in France: evaluation of the selective process. J Clin Pathol 2010; 63: 548-551.
    CrossrefPubMedGoogle Scholar
  • 6 Bain BJ. Neonatal/newborn haemoglobinopathy screening in Europe and Africa. J Clin Pathol 2009; 62: 53-56.
    CrossrefPubMedGoogle Scholar
  • 7 Gulbis B, Cotton F, Ferster A. et al. Neonatal haemoglobinopathy screening in Belgium. J Clin Pathol 2009; 62: 49-52.
    CrossrefPubMedGoogle Scholar
  • 8 Streetly A, Latinovic R, Henthorn J. Positive screening and carrier results for the England-wide universal newborn sickle cell screening programme by ethnicity and area for 2005-07. J Clin Pathol 2010; 63: 626-629.
    CrossrefPubMedGoogle Scholar
  • 9 Lieberman L, Kirby M, Ozolins L. et al. Initial presentation of unscreened children with sickle cell disease: the Toronto experience. Pediatr Blood Cancer 2009; 53: 397-400.
    CrossrefPubMedGoogle Scholar
  • 10 Akar NA, Adekile A. Ten-year review of hospital admissions among children with sickle cell disease in Kuwait. Med Princ Pract 2008; 17: 404-408.
    CrossrefPubMedGoogle Scholar
  • 11 da Silva Filho IL, Ribeiro GS, Moura PG. et al. Sickle cell disease: acute clinical manifestations in early childhood and molecular characteristics in a group of children in Rio de Janeiro. Rev Bras Hematol Hemoter 2012; 34: 196-201.
    CrossrefPubMedGoogle Scholar
  • 12 Gill FM, Sleeper LA, Weiner SJ. et al. Clinical events in the first decade in a cohort of infants with sickle cell disease. Cooperative Study of Sickle Cell Disease. Blood 1995; 86: 776-783.
    PubMedGoogle Scholar
  • 13 Neonato MG, Guilloud-Bataille M, Beauvais P. et al. Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell Disease. Eur J Haematol 2000; 65: 155-164.
    CrossrefPubMedGoogle Scholar
  • 14 Telfer P, Coen P, Chakravorty S. et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica 2007; 92: 905-912.
    CrossrefPubMedGoogle Scholar
  • 15 Teoh Y, Greenway A, Savoia H. et al. Hospitalisations for sickle-cell disease in an Australian paediatric population. J Paediatr Child Health 2013; 49: 68-71.
    CrossrefPubMedGoogle Scholar
  • 16 Adamkiewicz TV, Silk BJ, Howgate J. et al. Effectiveness of the 7-valent pneumococcal conjugate vaccine in children with sickle cell disease in the first decade of life. Pediatrics 2008; 121: 562-569.
    CrossrefPubMedGoogle Scholar
  • 17 Gaston MH, Verter JI, Woods G. et al. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med 1986; 314: 1593-159.
    CrossrefPubMedGoogle Scholar
  • 18 Vichinsky EP, Styles LA, Colangelo LH. et al. Acute chest syndrome in sickle cell disease: clinical presentation and course. Cooperative Study of Sickle Cell Disease. Blood 1997; 89: 1787-1792.
    PubMedGoogle Scholar
  • 19 Brousse V, Elie C, Benkerrou M. et al. Acute splenic sequestration crisis in sickle cell disease: cohort study of 190 paediatric patients. Br J Haematol 2012; 156: 643-648.
    CrossrefPubMedGoogle Scholar
  • 20 Dickerhoff R. Splenic sequestration in patients with sickle cell disease. Klin Padiatr 2002; 214: 70-73.
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 21 Qureshi A, Lang N, Bevan DH. Sickle cell ’girdle syndrome’ progressing to ischaemic colitis and colonic perforation. Clin Lab Haematol 2006; 28: 60-62.
    CrossrefPubMedGoogle Scholar
  • 22 Antal P, Gauderer M, Koshy M, Berman B. Is the incidence of appendicitis reduced in patients with sickle cell disease?. Pediatrics 1998; 101: E7.
    PubMedGoogle Scholar
  • 23 Voskaridou E, Christoulas D, Terpos E. Sickle-cell disease and the heart: review of the current literature. Br J Haematol 2012; 157: 664-73.
    CrossrefPubMedGoogle Scholar
  • 24 Ohene-Frempong K, Weiner SJ, Sleeper LA. et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood 1998; 91: 288-294.
    PubMedGoogle Scholar
  • 25 Adams RJ. Big strokes in small persons. Arch Neurol 2007; 64: 1567-1574.
    CrossrefPubMedGoogle Scholar
  • 26 Adams RJ, McKie VC, Hsu L. et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med 1998; 339: 5-11.
    CrossrefPubMedGoogle Scholar
  • 27 Aygun B, Wruck LM, Schultz WH. et al. Chronic transfusion practices for prevention of primary stroke in children with sickle cell anemia and abnormal TCD velocities. Am J Hematol 2012; 87: 428-430.
    CrossrefPubMedGoogle Scholar
  • 28 Platt OS. Prevention and management of stroke in sickle cell anemia. Hematology Am Soc Hematol Educ Program 2006; 54-57.
    PubMedGoogle Scholar
  • 29 Hsieh MM, Fitzhugh CD, Tisdale JF. Allogeneic hematopoietic stem cell transplantation for sickle cell disease: the time is now. Blood 2011; 118: 1197-1207.
    CrossrefPubMedGoogle Scholar
  • 30 Mentzer WC, Heller S, Pearle PR. et al. Availability of related donors for bone marrow transplantation in sickle cell anemia. Am J Pediatr Hematol Oncol 1994; 16: 27-29.
    Google Scholar
  • 31 Matthes-Martin S, Lawitschka A, Fritsch G. et al. Stem cell transplantation after reduced-intensity conditioning for sickle cell disease. Eur J Haematol 2013; 90: 308-312.
    CrossrefPubMedGoogle Scholar
  • 32 Quinn CT, Rogers ZR, McCavit TL, Buchanan GR. Improved survival of children and adolescents with sickle cell disease. Blood 2010; 115: 3447-3452.
    CrossrefPubMedGoogle Scholar