Down sendromu, birçok doğumsal anomalilerle birlikte hematolojik bozuklukların eşlik edebildiği genetik bir has- talıktır. Lösemi benzeri geçici proliferatif bozukluk, lösemi insidansında artış, izole trombositopeni ve trombositoz gibi değişik hematolojik bozukluklar Down sendromunda sıklık- la gözlenmektedir. Down sendromunda görülen trombosi- topeninin etiyolojisi tam olarak bilinmemekte ve bu konu ile ilgili sınırlı sayıda veri bulunmaktadır. Bu makalede Down sendromu kliniğinin trombositopeni ve diğer hema- tolojik parametreler üzerine etkisinin değerlendirilerek, Down sendromu ve trombositopeni yaklaşımında gerekli bilgilerin vurgulanması amaçlanmıştır
1. Gorlin RJ, Cohen MM, Hennekam Raoul CM. Syndromes of the Head and Neck. Fourth Edition, Oxford Universty Press, 2001; pp 35-41.
2. Rozien NJ, Patterson D. Down’s Syndrome. The Lancet 2003;361:1281-9. http://dx.doi.org/10.1016/S0140-6736(03)12987-X
3. Wictor C. Vaughan, Iris F. Litt. Growth and Development. Nelson Textbook of Pediatrics. Eds: RE Behrman, RM Kliegman, WE Nelson, 17th Edition, Wß Saunders Company, Philadelphia 2003; pp. 1697
4. Domino G, Newman D. Relationship of physical stigmata to intellectual subnormality in mongoloids. Am J Ment Defic 1964;69:541-7.
5. Golden W, Pashayan HM. The effect of parental education on the eventual mental development of non-institutionalized children with Down’s Syndrome. J Pediatr 1976;89:604-5.
6. Knox GE, ten Bensel RW. Gastrointestinal malformations in Down’s Syndrome. Minn Med 1972:542-44. PMid:4260710
7. Requena-Silla Y, Rosenfield C, Miller L. Antiphospholipid antibodies and Down Syndrome: a case series. J Pediatr Hematol/Oncol 2002;24(7):575-8. http://dx.doi.org/10.1097/00043426-200210000-00018 PMid:12368700
8. Sare Z, et al. Prevalence of Thyroid disorder in Down’s Syndrome. Clin Genet 1978;14:154-8. PMid:151610
9. Derbent M, Tokel K. Congenital Heart Defects In Patients With Down Syndrome. Focus on Down Syndrome Research 2004;83-6.
10. Kuşkonmaz B, Çetin M. Down Sendromunda AML. Katkı Pediatri Dergisi 2004;26:397.
11. Sola MC, Rimsza LM. Mechanisms underlying thrombocytopenia in the neonatal intensive care unit. Acta Pediatr Suppl 2002;438:66-73. http://dx.doi.org/10.1111/j.1651-2227.2002.tb02907.x
12. Tekin M, Kemahlı S. Trombopoetin ve trombopoez. TEJM 2002;22:1-5.
13. Rajantie J, Javela K, Joutsi-Korhonen L, Kekomaki R. Chronic thrombocytopeni of childhood: use of non-invasive methods in clinical evaluation. Eur J Haematol 2004;72:268- 72. http://dx.doi.org/10.1111/j.1600-0609.2004.00215.x PMid:15089765
15. Cantez T, Dindar A. Siyanozlu doğumsal kalp hastalıkları. Neyzi O, Ertuğrul T, Pediatri 3. baskı, 2. cilt, Nobel Tıp Kitabevi, İstanbul, 2002;961-5.
16. Murray NA. Evaluation and treatment of thrombocytopenia in the neonatal intensive care unit. Acta Paediatr Suppl 2002;438:74-81. http://dx.doi.org/10.1111/j.1651-2227.2002.tb02908.x
17. Kater AP, Prins MH, Rosenstiel IA, Ottenkamp J, Peters M. Transient thrombocytopenia after cardiac surgery in infants with Down Syndrome. J Pediatr Hematol Oncol 1999;21(2):170-1. http://dx.doi.org/10.1097/00043426-199903000-00017 PMid:10206467
18. Kim GJ, Lee ES. Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus. Korean J Radiol 2009;10(2):190-3. http://dx.doi.org/10.3348/kjr.2009.10.2.190 PMid:19270866 PMCid:2651437
19. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A 2007;143(1):42- 50. http://dx.doi.org/10.1002/ajmg.a.31442 PMid:17163522
20. McLean S, McHale C, Enright H. Hematological abnormalities in adult patients with Down’s syndrome. Ir J Med Sci 2009;178(1):35-8. http://dx.doi.org/10.1007/s11845-008-0223-2 PMid:19020924
21. Matsubara K, Nigami H, Yura K, Inoue T, Isome K, Fukaya T. Serum thrombopoietin level and thrombocytopenia during the neonatal period in infants with Down’s syndrome. J Perinatol 2010;30(2):98-102. http://dx.doi.org/10.1038/jp.2009.120 PMid:19675574
Down syndrome is a genetic disorder associated with vari- ous congenital anomalies and hematologic abnormalities. Various hematologic disorders such as transient leukemia- like proliferative disorders, increased incidence of leuke- mia, isolated thrombocytopenia and thrombocytosis were observed in Down syndrome. The etiology of thrombocyto- penia in Down syndrome is not exactly kwnown and there are limited data about this subject. In this review, we aimed to to evaluate the impact of the clinics of Down syndrome on thrombocytopenia and other hematologic parameters so as to emphasize necessary information related to the app- roach to Down syndrome and thrombocytopenia
1. Gorlin RJ, Cohen MM, Hennekam Raoul CM. Syndromes of the Head and Neck. Fourth Edition, Oxford Universty Press, 2001; pp 35-41.
2. Rozien NJ, Patterson D. Down’s Syndrome. The Lancet 2003;361:1281-9. http://dx.doi.org/10.1016/S0140-6736(03)12987-X
3. Wictor C. Vaughan, Iris F. Litt. Growth and Development. Nelson Textbook of Pediatrics. Eds: RE Behrman, RM Kliegman, WE Nelson, 17th Edition, Wß Saunders Company, Philadelphia 2003; pp. 1697
4. Domino G, Newman D. Relationship of physical stigmata to intellectual subnormality in mongoloids. Am J Ment Defic 1964;69:541-7.
5. Golden W, Pashayan HM. The effect of parental education on the eventual mental development of non-institutionalized children with Down’s Syndrome. J Pediatr 1976;89:604-5.
6. Knox GE, ten Bensel RW. Gastrointestinal malformations in Down’s Syndrome. Minn Med 1972:542-44. PMid:4260710
7. Requena-Silla Y, Rosenfield C, Miller L. Antiphospholipid antibodies and Down Syndrome: a case series. J Pediatr Hematol/Oncol 2002;24(7):575-8. http://dx.doi.org/10.1097/00043426-200210000-00018 PMid:12368700
8. Sare Z, et al. Prevalence of Thyroid disorder in Down’s Syndrome. Clin Genet 1978;14:154-8. PMid:151610
9. Derbent M, Tokel K. Congenital Heart Defects In Patients With Down Syndrome. Focus on Down Syndrome Research 2004;83-6.
10. Kuşkonmaz B, Çetin M. Down Sendromunda AML. Katkı Pediatri Dergisi 2004;26:397.
11. Sola MC, Rimsza LM. Mechanisms underlying thrombocytopenia in the neonatal intensive care unit. Acta Pediatr Suppl 2002;438:66-73. http://dx.doi.org/10.1111/j.1651-2227.2002.tb02907.x
12. Tekin M, Kemahlı S. Trombopoetin ve trombopoez. TEJM 2002;22:1-5.
13. Rajantie J, Javela K, Joutsi-Korhonen L, Kekomaki R. Chronic thrombocytopeni of childhood: use of non-invasive methods in clinical evaluation. Eur J Haematol 2004;72:268- 72. http://dx.doi.org/10.1111/j.1600-0609.2004.00215.x PMid:15089765
15. Cantez T, Dindar A. Siyanozlu doğumsal kalp hastalıkları. Neyzi O, Ertuğrul T, Pediatri 3. baskı, 2. cilt, Nobel Tıp Kitabevi, İstanbul, 2002;961-5.
16. Murray NA. Evaluation and treatment of thrombocytopenia in the neonatal intensive care unit. Acta Paediatr Suppl 2002;438:74-81. http://dx.doi.org/10.1111/j.1651-2227.2002.tb02908.x
17. Kater AP, Prins MH, Rosenstiel IA, Ottenkamp J, Peters M. Transient thrombocytopenia after cardiac surgery in infants with Down Syndrome. J Pediatr Hematol Oncol 1999;21(2):170-1. http://dx.doi.org/10.1097/00043426-199903000-00017 PMid:10206467
18. Kim GJ, Lee ES. Prenatal diagnosis of transient abnormal myelopoiesis in a Down syndrome fetus. Korean J Radiol 2009;10(2):190-3. http://dx.doi.org/10.3348/kjr.2009.10.2.190 PMid:19270866 PMCid:2651437
19. Henry E, Walker D, Wiedmeier SE, Christensen RD. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Am J Med Genet A 2007;143(1):42- 50. http://dx.doi.org/10.1002/ajmg.a.31442 PMid:17163522
20. McLean S, McHale C, Enright H. Hematological abnormalities in adult patients with Down’s syndrome. Ir J Med Sci 2009;178(1):35-8. http://dx.doi.org/10.1007/s11845-008-0223-2 PMid:19020924
21. Matsubara K, Nigami H, Yura K, Inoue T, Isome K, Fukaya T. Serum thrombopoietin level and thrombocytopenia during the neonatal period in infants with Down’s syndrome. J Perinatol 2010;30(2):98-102. http://dx.doi.org/10.1038/jp.2009.120 PMid:19675574
Saygılı Karagöl, B., & Karagöl, A. (2011). Down Sendromu ve Trombositopeni. Çocuk Dergisi, 11(3), 97-101. https://doi.org/10.5222/j.child.2011.097
AMA
Saygılı Karagöl B, Karagöl A. Down Sendromu ve Trombositopeni. Çocuk Dergisi. July 2011;11(3):97-101. doi:10.5222/j.child.2011.097
Chicago
Saygılı Karagöl, Belma, and Arda Karagöl. “Down Sendromu Ve Trombositopeni”. Çocuk Dergisi 11, no. 3 (July 2011): 97-101. https://doi.org/10.5222/j.child.2011.097.
EndNote
Saygılı Karagöl B, Karagöl A (July 1, 2011) Down Sendromu ve Trombositopeni. Çocuk Dergisi 11 3 97–101.
IEEE
B. Saygılı Karagöl and A. Karagöl, “Down Sendromu ve Trombositopeni”, Çocuk Dergisi, vol. 11, no. 3, pp. 97–101, 2011, doi: 10.5222/j.child.2011.097.
ISNAD
Saygılı Karagöl, Belma - Karagöl, Arda. “Down Sendromu Ve Trombositopeni”. Çocuk Dergisi 11/3 (July 2011), 97-101. https://doi.org/10.5222/j.child.2011.097.
JAMA
Saygılı Karagöl B, Karagöl A. Down Sendromu ve Trombositopeni. Çocuk Dergisi. 2011;11:97–101.
MLA
Saygılı Karagöl, Belma and Arda Karagöl. “Down Sendromu Ve Trombositopeni”. Çocuk Dergisi, vol. 11, no. 3, 2011, pp. 97-101, doi:10.5222/j.child.2011.097.
Vancouver
Saygılı Karagöl B, Karagöl A. Down Sendromu ve Trombositopeni. Çocuk Dergisi. 2011;11(3):97-101.