Ultrastrukturna i morfometrijska analiza uvećanih trombocita kod bolesnika sa izolovanom kongenitalnom asplenijom
Sažetak
Apstrakt
Uvod. Kongenitalna asplenija je izuzetno retka. Može se javiti izolovano (specifični defekt u razvoju slezine) ili u sklopu malformacionog sindroma. Bolest se najčešće dijagnostikuje u dečjem dobu, a odlikuje je nalaz trombocitoze sa malim tromboctima i infekcije inkapsuliranim mikroorganizmima koje mogu ugroziti život bolesnika. Prikaz bolesnika. Prikazali smo 52-godišnju bolesnicu sa izolovanom kongenitalnom asplenijom i pseudotrombocitopenijom sa gigantskim trombocitima. Ispitivanje radioaktivnim indijumom pokazalo je normalnu dužinu života trombocita (9 dana), a protočna citometrija normalnu ekspresiju CD41 i CD42b antigena na trombocitima bolesnice. Srednji dijametar trombocita meren transmisionom elektronskom mikroskopijom (TEM) bio je značajno veći nego kod zdravih osoba (3,81 ± 1,16 µm vs. 2,37 ± 0,61 µm, p < 0.05). Kod zdravih osoba bilo je prisutno samo nekoliko trombocita dijametra većeg od 4 µm, (oko 1%), a kod bolesnice je takvih trombocita bilo > 40%. Ultrastrukturna analiza (TEM) pokazala je normalnu morfologiju megakariocita. Trombociti u perifernoj krvi i kostnoj srži bili su uniformno sferoidnog oblika sa vidljivim pseudopodijama, centralizacijom granula i bez vidljive ivične spirale mikrotubula. Zaključak. U dostupnoj literaturi nema objavljenih slučajeva kongenitalne asplenije sa pseudotrombocitopenijom i gigantskim trombocitima. Diskutovana je patogeneza gigantskih trombocita i moguća povezanost uočenih ultrastrukturnih promena trombocita sa teškim oblikom trosudovne koronarne bolesti kod prikazane bolesnice.
Reference
REFERENCES
Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku C, Tournilhac O, et al. Isolated congenital asplenia: French nationwide re-trospective survey of 20 cases. J Pediatr 2011; 158(1): 142– 8, 148.e1
Gilbert B, Menetrey C, Belin V, Brosset P, Lumley L, Fisher A. Familial isolated congenital asplenia: A rare, frequently he-reditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. Eur J Pediatr 2002; 161(7): 368–72.
Vincentelli C, Molina EG, Robinson MJ. Fatal pneumococcal Waterhouse-Friderichsen syndrome in a vaccinated adult with congenital asplenia. Am J Emerg Med 2009; 27(6): 751.e3–5
Germing U, Perings C, Steiner S, Peters AJ, Heintzen MP, Aul C. Congenital asplenia detected in a 60 year old patient with sep-ticemia. Eur J Med Res 1999; 4(7): 283–5.
Chanet V, Tournilhac O, Dieu-Bellamy V, Boiret N, Spitz P, Baud O, et al. Isolated spleen agenesis: A rare cause of thrombocyto-sis mimicking essential thrombocythemia. Haematologica 2000; 85(11): 1211–3.
Rose C, Quesnel B, Facon T, Fenaux P, Jouet JP, Bauters F. Congenital asplenia, a differential diagnosis of essential thrombocythemia. Presse Med 1993; 22(34): 1748. (French)
Takahashi F, Uchida K, Nagaoka T, Honma N, Cui R, Yoshioka M, et al. Isolated congenital spleen agenesis: a rare cause of chronic thromboembolic pulmonary hypertension in an adult. Respirology 2008; 13(6): 913–5.
Italiano JE, Lecine P, Shivdasani RA, Hartwig JH. Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol 1999; 147(6): 1299–312.
Tablin F, Castro M, Leven RM. Blood platelet formation in vitro. The role of the cytoskeleton in megakaryocyte fragmen-tation. J Cell Sci 1990; 97(Pt 1): 59–70.
Italiano JE, Patel-Hett S, Hartwig JH. Mechanics of proplatelet elaboration. J Thromb Haemost 2007; 5 Suppl 1: 18–23.
Thon JN, Italiano JE. Platelets: production, morphology and ul-trastructure. Handb Exp Pharmacol 2012; (210): 3–22.
Machlus KR, Thon JN, Italiano JE. Interpreting the developmen-tal dance of the megakaryocyte: A review of the cellular and molecular processes mediating platelet formation. Br J Haema-tol 2014; 165(2): 227–36.
Myerson RM, Koelle WA. Congenital absence of the spleen in an adult; report of a case associated with recurrent Water-house-Friderichsen syndrome. N Engl J Med 1956; 254(24): 1131–2.
Pretorius E, Oberholzer HM, van der Spuy WJ, Meiring JH. Ma-crothrombocytopenia: Investigating the ultrastructure of platelets and fibrin networks using scanning and transmission electron microscopy. Ultrastruct Pathol 2009; 33(5): 216–21.
Bath P, Algert C, Chapman N, Neal B. Association of mean platelet volume with risk of stroke among 3134 individuals with history of cerebrovascular disease.. Stroke 2004; 35(3): 622–6.
Slavka G, Perkmann T, Haslacher H, Greisenegger S, Marsik C, Wagner OF, Endler G. Mean platelet volume may represent a predictive parameter for overall vascular mortality and ischemic heart disease. Arterioscler Thromb Vasc Biol 2011; 31(5): 1215–8.
Maurer-Spurej E, Pfeiler G, Maurer N, Lindner H, Glatter O, Devine DV. Room temperature activates human blood platelets. Lab Invest 2001; 81(4): 581–92.