Monatsschrift Kinderheilkunde

, Volume 154, Issue 11, pp 1081–1089 | Cite as

Sichelzellkrankheit in Deutschland

Eine „exotische“ Krankheit im medizinischen Alltag
Leitthema

Zusammenfassung

Die Sichelzellkrankheit ist eine erbliche Hämoglobinopathie. Sie ist gekennzeichnet durch eine chronische Hämolyse, erhöhte Infektneigung und rezidivierende Gefäßverschlüsse, die zu akuten und chronischen Schädigungen aller Organe führen können. Zurzeit leben in Deutschland etwa 1000 Sichelzellpatienten, Migranten aus dem Mittelmeerraum, dem Mittleren Osten, Afrika und Asien. In Deutschland gibt es für diese Erkrankung kein Neonatalscreening, sie wird hierzulande meist rein zufällig entdeckt – bei Kindern mit hämolytischer Anämie, unklaren Schmerzepisoden, gehäuften Pneumonien oder bereits einer schweren Komplikation. Die Diagnosestellung erfolgt durch Hämoglobinanalyse. Sichelzellpatienten optimal zu betreuen erfordert wegen der Komplexität der Erkrankung ein breites Wissen und Erfahrung, die der einzelne Arzt bei uns nicht selbst erwerben kann. Es ist deshalb unerlässlich, auf eine Informationszentrale zurückgreifen zu können, die Therapieempfehlungen gibt und bei Komplikationen Hilfestellung leistet.

Schlüsselwörter

Sichelzellkrankheit Schmerzkrisen Neugeborenenscreening Akutes Thoraxsyndrom Milzsequestration 

Sickle cell anemia in Germany

An “exotic disease” found in every day practice

Abstract

Sickle cell anemia is a hereditary hemoglobinopathy characterized by chronic hemolysis, increased infections and recurring vaso-occlusions which can cause acute and chronic damage to all organs. As of May 2006, there are probably 1,000 sickle cell patients living in Germany: migrants from the Mediterranean area, the Middle East, Africa and Asia. As there is no neonatal screening for this disease in Germany, patients are diagnosed by mere chance if they happen to be found to have hemolytic anemia, recurrent pain or pneumonia or one of the severe complications caused by the disease. Diagnosis is made by hemoglobin analysis. Providing optimal care for patients with such a complex disease requires a great deal of knowledge and experience that cannot be acquired by each individual physician in Germany. A sickle cell information centre is therefore indispensable for providing physicians with up to date management guidelines and for consultation when complications arise.

Keywords

Sickle cell anemia Pain crises Newborn screening Acute chest syndrome Splenic sequestration 

Literatur

  1. 1.
    Adams RJ, McKie VC, Hsu L et al. (1998) Prevention of a first stroke by transfusion in children with sickle cell aneamia and abnormal results on transcranial doppler ultrasonography. N Engl J Med 339: 5–11CrossRefPubMedGoogle Scholar
  2. 2.
    Adams RJ, Pavlakis S, Roach ES (2003) Sickle cell disease and stroke: primary prevention and transcranial Doppler. Ann Neurol 54: 559–563CrossRefPubMedGoogle Scholar
  3. 3.
    Amrolia PJ, Almeida A, Halsey C et al. (2003) Therapeutic challenges in childhood sickle cell disease. Part 1: current and future treatment options. Br J Haematol 120: 725–736CrossRefPubMedGoogle Scholar
  4. 4.
    Amrolia PJ, Almeida A, Davies SC et al. (2003) Therapeutic challenges in childhood sickle cell disease. Part 2: a problem-oriented approach. Br J Haematol 120: 737–743CrossRefPubMedGoogle Scholar
  5. 5.
    Bardakdjian-Michau J, Guilloud-Bataille M, Maier-Redelsperger M et al. (2002) Decreased morbidity in homozygous sickle cell disease detected at birth. Hemoglobin 26: 211–217CrossRefPubMedGoogle Scholar
  6. 6.
    Bellet PS, Kalinyak KA, Shukla R et al. (1995) Incentive spirometry to prevent acute pulmonary complications in sickle cell disease. N Engl J Med 333: 699–703CrossRefPubMedGoogle Scholar
  7. 7.
    Booz MMY, Hariharan V, Aradi AJ et al. (1999) The value of ultrasound and aspiration in differentiating vaso-occlusisve crisis and osteomyelitis in sickle cell disease patients. Clin Radiol 54: 636–639CrossRefPubMedGoogle Scholar
  8. 8.
    Charache S, Terrin ML, Moore RD et al. (1995) Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N Engl J Med 332: 1317–1322CrossRefPubMedGoogle Scholar
  9. 9.
    Claster S, Vichinsky EP (2003) Managing sickle cell disease. BMJ 327: 1151–1155CrossRefPubMedGoogle Scholar
  10. 10.
    Dickerhoff R, von Rücker A, Kohne E (2000) Heterozygote Hämoglobin-S-Anlage. Dtsch Ärztebl 97: A2717–A2719Google Scholar
  11. 11.
    Dickerhoff R (2002) Milzsequestrationen bei Patienten mit Sichelzellerkrankungen. Klin Pädiatr 214: 70–73Google Scholar
  12. 12.
    Dickerhoff R (2006) Sichelzellkrankheit in Deutschland. Klin Pädiatr 218: 165–169Google Scholar
  13. 13.
    Emond AM, Collis R, Darvill D et al. (1985) Acute splenic sequestration in homozygous sickle cell disease: natural history and management. J Pediatr 107: 201–206CrossRefPubMedGoogle Scholar
  14. 14.
    Gladwin MT, Sachdev V, Jison ML et al. (2004) Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med 350: 886–895CrossRefPubMedGoogle Scholar
  15. 15.
    Goldstein AR, Anderson MJ, Serjeant GR (1987) Parvovirus associated aplastic crisis in homozygous sickle cell disease. Arch Dis Child 62: 585–588PubMedGoogle Scholar
  16. 16.
    Halsey C, Roberts IAG (2003) The role of hydroxyurea in sickle cell disease. Br J Haematol 120: 177–186CrossRefPubMedGoogle Scholar
  17. 17.
    Iannone R, Ohene-Frempong K, Fuchs EJ et al. (2005) Bone marrow transplantation for sickle cell anemia: progress and prospects. Pediatr Blood Cancer 44: 436–440CrossRefPubMedGoogle Scholar
  18. 18.
    Mallouh AA, Young M, Hamdan J et al. (1987) Proptosis, skull infarction, and retro-orbital and epidural hematomas in a child with sickle cell disease. Clin Pediatr (Phila) 26: 536–538Google Scholar
  19. 19.
    Montalembert M de, Brousse V, Elie C et al. (2006) Long-term hydroxyurea treatment in children with sickle cell disease: tolerance and clinical outcome. Haematologica 91: 125–128PubMedGoogle Scholar
  20. 20.
    Okpala I, Westerdale N, Jegede T et al. (2002) Etilefrine for the prevention of priapism in adult sickle cell disease. Br J Haematol 118: 918–921CrossRefPubMedGoogle Scholar
  21. 21.
    Platt OS, Brambilla DJ, Rosse WF et al. (1994) Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 330: 1639–1644CrossRefPubMedGoogle Scholar
  22. 22.
    Powars D (1989) Diagnosis at birth improves survival of children with sickle cell anemia. Pediatrics 83: 830–833PubMedGoogle Scholar
  23. 23.
    Quinn CT, Rogers ZR, Buchanan GR (2004) Survival of children with sickle cell disease. Blood 103: 4023–4027CrossRefPubMedGoogle Scholar
  24. 24.
    Rees DC, Olujohungbe AD, Parker NE et al. (2003) Guidelines for the management of the acute painful crisis in sickle cell disease. Br J Haematol 120: 744–752CrossRefPubMedGoogle Scholar
  25. 25.
    Styles LA, Vichinsky EP (1996) Core decompression in avascular necrosis of the hip in sickle cell disease. Am J Hematol 52: 103–107CrossRefPubMedGoogle Scholar
  26. 26.
    Vernacchio L, Neufeld EJ, MacDonald K et al. (1998) Combined schedule of 7-valent pneumococcal conjugate vaccine followed by 23-valent pneumococcal vaccine in children and young adults with sickle cell disease. J Pediatr 133: 273–278Google Scholar
  27. 27.
    Vichinsky EP, Neumayr LD, Earles AN et al. (2000) Causes and outcome of the acute chest syndrome in sickle cell disease. N Engl J Med 342: 1855–1865CrossRefPubMedGoogle Scholar

Copyright information

© Springer Medizin Verlag 2006

Authors and Affiliations

  1. 1.Hämatologie/OnkologieAsklepios-KinderklinikSt. AugustinDeutschland

Personalised recommendations