Erste Ergebnisse der THROMKID-Studie

Zusammenfassung

Im Rahmen der THROMKID-Studie als Qualitätsprojekt der Ständigen Kommission Pädiatrie der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) wurden Daten pädiatrischer Patienten mit hereditären Thrombozytopathien zwischen Mai 2005 und August 2006 erfasst. Die Ergebnisse der Thrombozytenfunktionsdiagnostik wurden bei jedem Patienten bewertet und die Diagnosen als sehr wahrscheinlich, wahrscheinlich oder unwahrscheinlich eingestuft. Von insgesamt 215 Patienten aus 31 Zentren war bei 95 (44%) die Diagnose sehr wahrscheinlich und bei 28 (13%) wahrscheinlich. Folgende Erkrankungen wurden erfasst: Thrombasthenie Glanzmann (n = 39, 32%), Aspirin- like Defekt (n = 26, 21%), thrombozytäre Rezeptordefekte (n = 21, 17%), Storage-pool-Defekte (n = 18, 15%), Bernard-Soulier Syndrom (n=10, 8%), Hermansky-Pudlak-Syndrom (n = 6, 5%) und MYH9-assoziierte Makrothrombozytopenie (n = 3, 2%). Bei 92 (43%) Patienten war die Diagnose unwahrscheinlich.

Die geringe Prävalenz dieser Erkrankungen und der hohe Prozentsatz nicht klassifizierbarer Krankheitsentitäten zeigt die Notwendigkeit, ein Kompetenznetzwerk zur Betreuung dieser Kinder in deutschsprachigen Ländern zu etablieren.

Summary

THROMKID is a quality project of the Paediatric Group of German Thrombosis and Haemostasis Research Society (GTH). Data from paediatric patients with hereditary thrombocytopathies (HT) treated in Germany, Austria, and Switzerland were obtained between May 2005 and August 2006. By evaluation of results of platelet function tests criteria were determined to assess the diagnosis in each patient into most likely, likely or unlikely. A total of 215 patients treated in 31 centers were identified. In 95 patients (44%) the diagnosis of HT was most likely, in 28 (13%) likely and in 92 (43%) unlikely. Taken the first two groups together (n = 123) the diagnoses were as follows: Glanzmann thrombasthenia (n = 39, 32%), Aspirin-like defect (n = 26, 21%), thrombocyte receptor defects (n = 21, 17%), storage pool disorders (n = 18, 15%), Bernard- Soulier syndrome (n = 10, 8%), Hermansky-Pudlak syndrome (n = 6, 5%) and MYH9-related hereditary makrothrombocytopenia (n = 3, 2%).

The low prevalence of these diseases and the high percentage of patients with unclassified HT stresses the necessity for the establishment of a competence network for comprehensive care of these patients in the three German-speaking countries.

Schlüsselwörter

Hereditäre Thrombozytopathien - Kinder - Diagnostik

Keywords

Hereditary thrombocytopathies - children - diagnostics

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