Zusammenfassung
Angeborene Störungen der Blutbildung umfassen eine Gruppe seltener Erkrankungen, die durch eine Verminderung reifer Blutzellen (Erythrozyten, Granulozyten, Thrombozyten) gekennzeichnet sind. Zu diesen Erkrankungen gehören die angeborene aplastische Anämie (Fanconi-Anämie), kongenitale hypoplastische Anämie (Diamond-Blackfan-Anämie), kongenitale Neutropenien (Kostmann-Syndrom, zyklische Neutropenie, Shwachman-Diamond-Syndrom und viele andere) sowie kongenitale Thrombozytopenien (TAR-Syndrom, amegakaryozytäre Thrombozytopenie). Insgesamt ist in Deutschland von einer Prävalenz dieser Erkrankungen von 10/1.000.000 Kindern und Jugendlichen auszugehen. Trotz ihrer Seltenheit ist ihr Verständnis für die Erforschung der normalen und pathologischen Hämatopoese von immenser Bedeutung. Zu diesem Zweck sind die Dokumentation dieser seltenen Erkrankungen in Patientenregistern und der Zusammenschluss von Behandlungszentren in Netzwerken wichtig. Im Folgenden soll dies am Beispiel der angeborenen Neutropenien beschrieben werden: Bis in die 1980er-Jahre war eine Klassifikation der angeborenen Neutropenien ausschließlich klinisch möglich, es existierten nur wenige Fallbeschreibungen. Daher wurden die unterschiedlichen Formen unter dem Sammelbegriff "schwere kongenitale Neutropenie" zusammengefasst. Erst durch den Aufbau eines internationalen Expertennetzwerkes und die Langzeitdokumentation von Krankheitsverläufen in einer gemeinsamen Datenbank konnten statistisch tragfähige Daten zu Therapieansprechen, Begleiterkrankungen und Langzeitprognose gesammelt werden. Die enge Kooperation mit Wissenschaftlern führte letztlich zur Charakterisierung genetisch unterschiedlicher Erkrankungen mit gemeinsamen Pathomechanismen.
Abstract
Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.
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Zeidler, C., Welte, K. Angeborene Störungen der Blutbildung. Bundesgesundheitsbl. 50, 1564–1568 (2007). https://doi.org/10.1007/s00103-007-0392-6
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DOI: https://doi.org/10.1007/s00103-007-0392-6