Glanzmann's thrombasthenia
| Classification according to ICD-10 | |
|---|---|
| D69.1 | Qualitative platelet defects - Glanzmann (Naegeli) syndrome |
| ICD-10 online (WHO version 2019) | |
The Glanzmann's thrombasthenia (or Glanzmann-Naegeli syndrome , Crohn Glanzmann-Naegeli by Eduard Glanzmann , Swiss pediatrician 1887-1959) is a rare inherited platelet function leading to a greatly increased tendency to bleed can result. The term hereditary thrombasthenia is also used synonymously .
It is triggered by defects in the genes (17q 21) for GPIIb or GPIIIa. As a result, the GPIIb / GPIIIa receptor on platelets is defective or absent, resulting in poor aggregation of platelets (as occurs in primary hemostasis). In addition, the adhesion to Von Willebrand factor and fibronectin , which, in addition to the platelet-crosslinking fibrinogen , are bound by the activated GPIIb / IIIa receptor, is disturbed .
A knock-out of one of the two genes in mice leads to a Glanzmann-like phenotype in the animals.
The autosomal dominant macrothrombocytopenia can thrombasthenia Glanzmann be regarded as a special form of.
On September 18, 2014, a group of American and Indian researchers were awarded the Ig Nobel Prize for documenting the hemostatic effect of cured pork on Glanzman's thrombasthenia. The Glanzmann thrombasthenia can be proven by a functional examination of the platelets ( light transmission aggregometry ).
literature
- S2k guideline thrombocytopathies of the Society for Thrombosis and Haemostasis Research (GTH). In: AWMF online (as of 2012)
- WE Glanzmann. Hereditary hemorrhagic thrombasthenia. A contribution to the pathology of the platelets. In: Yearbook for Pediatrics. 88, 1918, pp. 1-42, 113-141.
- AT Nurden: Glanzmann thrombasthenia. In: Orphanet Journal of Rare Diseases. 1, 2006, p. 10. doi: 10.1186 / 1750-1172-1-10 , PMID 16722529 (Review, Open Access)
- M. Barthels, M. von Depka: Coagulation Compendium . Thieme Verlag, Stuttgart / New York 2003, ISBN 3-13-131751-5 .
Web links
- Glanzmann's thrombastenia. at whonamedit.com (English)
Individual evidence
- ^ W. Pschyrembel: Clinical dictionary. Verlag Walter de Gruyter, 265th edition (2014), p. 1666, ISBN 3-11-018534-2
- ^ Awarding of the Ig Nobel Prizes. Mirror online
- ↑ Nasal packing with strips of cured pork as treatment for uncontrollable epistaxis in a patient with Glanzmann thrombasthenia . PMID 22224315
