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Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar

Year 2012, Volume: 12 Issue: 3, 113 - 116, 01.07.2012

Melike Ersoy Gülden Gökçay Mübeccel Demirkol

https://doi.org/10.5222/j.child.2012.113

Abstract

Doğumsal metabolik hastalıklar DMH , tek ya da birden fazla sistemi etkileyerek farklı klinik tablolarla karşımıza çıkabilmektedir. DMH da hematolojik sistem tutulumu sık karşılaşılan bir durumdur. Hematolojik bulgular içinde en sık sitopeni gözlenmektedir. Hastalığın ilk ve tek bulgusu olabilir ve erken tanınması erken tedaviyi ve etkilenebile- cek sistemlerin takibinin yapılmasını sağlayacağından önemlidir. Ülkemizde metabolik hastalıkların sıklığı göz önüne alındığında, tam kan sayımı ve periferik yayma, değerlendirmenin bütününde yer almalıdır. Ek sistem tutu- lumu olan, atipik seyirli, başka nedenlerle açıklanamayan sitopenilerde doğumsal metabolik hastalıkları değerlendir- mek gerekmektedir. Bu makale, geniş bir ayırıcı tanı listesi içeren metabolik sitopeni nedenlerini derleme niteliğinde- dir

Keywords

Sitopeni doğumsal metabolik hastalık

References

  • 1. Evangeliou A. Dafnis E, Perdikoyanni C, Spilioti M, Lionis C, Kalmanti M. Hematologic abnormalities in born errors of metabolism-how frequent are they? The Creatan experience. Pediatr Hematol Oncol 2002;19:581-5. http://dx.doi.org/10.1080/08880010290108708 PMid:12487834
  • 2. Hoffmann GF, Nyhan WL, Zschocke J. Hematologic abnormalities. In GF, ed. Inherited Metabolic Diseases. Heidelberg: 2010;233-41.
  • 3. Gilbert-Barness E, Barness LA. Izovaleric acidemia with promyelocytic myeloproliferative syndrome. Pediatr Dev Pathol 1999;2:286-91. http://dx.doi.org/10.1007/s100249900125 PMid:10191353
  • 4. Guerra-Moreno J, Barrios N, Santiago-Borrero PJ. Severe neutropenia in an bebek with methylmalonic acidemia. Bol Asoc Med PR 2003;95:17-20. PMid:12898746
  • 5. Chiarelli LR, Fermo E, Zanella A, et al. Hereditary erythrocyte pyrimidine 5í-nucleotidase deficiency: a biochemical, genetic and clinical overview. Hematology 2006;11:67-72. http://dx.doi.org/10.1080/10245330500276667 PMid:16522554
  • 6. Zimran A, Altarescu G, Rudensky B, et al. Survey of the hematological aspects of Gaucher disease. Hematology 2005;10:151-6. http://dx.doi.org/10.1080/10245330500067181 PMid:16019462
  • 7. Sassa S. Hematologic aspects of the porphrias. Int J Hematol 2005;71:1-17.
  • 8. Rosenblatt DS, Whitehead VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol 1999;36:19-34. PMid:9930566
  • 9. Finsterer J. Hematogical manifestations of primary of mitochondrial disorders. Acta Haematol 2007;118:88-98. http://dx.doi.org/10.1159/000105676 PMid:17637511
  • 10. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-84.
  • 11. Inoue S, Krieger I, Sarnaik A, Ravindranath Y, Fracassa M, Ottenbreit MJ. Inhibition of bone marrowstem cell growth in vitro bt methylmalonic acid: a mechanism for pancytopenia in apatient with methylmalonic acidemia. Pediatr Res 1981;15:95-8. http://dx.doi.org/10.1203/00006450-198102000-00001 PMid:7254944
  • 12. Kelleher JF Jr, Yudkoff M, Hutchinson R, August CS, Cohn RM. The pancytopenia of isovaleric acidemia. Pediatrics 1980;65:1023-7. PMid:7367115
  • 13. Beaudet AI, Anderson DC, Michels VV, Arion Lange WJ. Neutropenia and impaired neutrophil migration in type Ib glycogen storage disease. J Pediatr 1980;97:906-10. http://dx.doi.org/10.1016/S0022-3476(80)80418-5
  • 14. Hurst D, Kilpatrick L, Becker J, et al. Recombinant Human GM-CSF treatment of neutropenia in gycogen disease type 1b. Am J Ped Hem/Onc 1993;15:71-6.
  • 15. Sebastio G, Sperando MP, Andria G. Lysinuric protein intolerance: reviewing concepts on multisystem disease. Am J Med Genet C Semin Med Genet 2011;157:54-62. http://dx.doi.org/10.1002/ajmg.c.30287 PMid:21308987
  • 16. Stork LC, Ambruso DR, Wallner SF, et al. Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. Pediatr Res 1986;20:783-8. http://dx.doi.org/10.1203/00006450-198608000-00017 PMid:3737292

Inherited Metabolic Diseases as Etiological Factors in Cytopenia

Year 2012, Volume: 12 Issue: 3, 113 - 116, 01.07.2012

Melike Ersoy Gülden Gökçay Mübeccel Demirkol

https://doi.org/10.5222/j.child.2012.113

Abstract

Inherited metabolic diseases IMD , could affect one or more than system and present different clinical situations. Hematologic system abnormalities are common occurrence in IMD. Cytopenia has been the most frequently observed hema- tologic finding. This may be the one and only symptom of the disease. Early recognition will provide early treatment and also monitoring the possibly affected systems. Considering the higher incidence of metabolic disorders in our country, a complete blood count and peripheral smear should be part of diagnostic evaluation of metabolic diseases. It would be wise to evaluate IMDs when cytopenia is associated with additio- nal system involvement, atypical course or unknown etiology. This article contains an extensive list of differential diagnoses of metabolic causes of cytopenia

Keywords

Cytopenia inherited metabolic disease

References

  • 1. Evangeliou A. Dafnis E, Perdikoyanni C, Spilioti M, Lionis C, Kalmanti M. Hematologic abnormalities in born errors of metabolism-how frequent are they? The Creatan experience. Pediatr Hematol Oncol 2002;19:581-5. http://dx.doi.org/10.1080/08880010290108708 PMid:12487834
  • 2. Hoffmann GF, Nyhan WL, Zschocke J. Hematologic abnormalities. In GF, ed. Inherited Metabolic Diseases. Heidelberg: 2010;233-41.
  • 3. Gilbert-Barness E, Barness LA. Izovaleric acidemia with promyelocytic myeloproliferative syndrome. Pediatr Dev Pathol 1999;2:286-91. http://dx.doi.org/10.1007/s100249900125 PMid:10191353
  • 4. Guerra-Moreno J, Barrios N, Santiago-Borrero PJ. Severe neutropenia in an bebek with methylmalonic acidemia. Bol Asoc Med PR 2003;95:17-20. PMid:12898746
  • 5. Chiarelli LR, Fermo E, Zanella A, et al. Hereditary erythrocyte pyrimidine 5í-nucleotidase deficiency: a biochemical, genetic and clinical overview. Hematology 2006;11:67-72. http://dx.doi.org/10.1080/10245330500276667 PMid:16522554
  • 6. Zimran A, Altarescu G, Rudensky B, et al. Survey of the hematological aspects of Gaucher disease. Hematology 2005;10:151-6. http://dx.doi.org/10.1080/10245330500067181 PMid:16019462
  • 7. Sassa S. Hematologic aspects of the porphrias. Int J Hematol 2005;71:1-17.
  • 8. Rosenblatt DS, Whitehead VM. Cobalamin and folate deficiency: acquired and hereditary disorders in children. Semin Hematol 1999;36:19-34. PMid:9930566
  • 9. Finsterer J. Hematogical manifestations of primary of mitochondrial disorders. Acta Haematol 2007;118:88-98. http://dx.doi.org/10.1159/000105676 PMid:17637511
  • 10. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolisation of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976-84.
  • 11. Inoue S, Krieger I, Sarnaik A, Ravindranath Y, Fracassa M, Ottenbreit MJ. Inhibition of bone marrowstem cell growth in vitro bt methylmalonic acid: a mechanism for pancytopenia in apatient with methylmalonic acidemia. Pediatr Res 1981;15:95-8. http://dx.doi.org/10.1203/00006450-198102000-00001 PMid:7254944
  • 12. Kelleher JF Jr, Yudkoff M, Hutchinson R, August CS, Cohn RM. The pancytopenia of isovaleric acidemia. Pediatrics 1980;65:1023-7. PMid:7367115
  • 13. Beaudet AI, Anderson DC, Michels VV, Arion Lange WJ. Neutropenia and impaired neutrophil migration in type Ib glycogen storage disease. J Pediatr 1980;97:906-10. http://dx.doi.org/10.1016/S0022-3476(80)80418-5
  • 14. Hurst D, Kilpatrick L, Becker J, et al. Recombinant Human GM-CSF treatment of neutropenia in gycogen disease type 1b. Am J Ped Hem/Onc 1993;15:71-6.
  • 15. Sebastio G, Sperando MP, Andria G. Lysinuric protein intolerance: reviewing concepts on multisystem disease. Am J Med Genet C Semin Med Genet 2011;157:54-62. http://dx.doi.org/10.1002/ajmg.c.30287 PMid:21308987
  • 16. Stork LC, Ambruso DR, Wallner SF, et al. Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. Pediatr Res 1986;20:783-8. http://dx.doi.org/10.1203/00006450-198608000-00017 PMid:3737292
There are 16 citations in total.

Details

Primary Language Turkish
Journal Section Research Articles
Authors

Melike Ersoy This is me

Gülden Gökçay This is me

Mübeccel Demirkol This is me

Publication Date July 1, 2012
Published in Issue Year 2012 Volume: 12 Issue: 3

Cite

APA Ersoy, M., Gökçay, G., & Demirkol, M. (2012). Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar. Çocuk Dergisi, 12(3), 113-116. https://doi.org/10.5222/j.child.2012.113
AMA Ersoy M, Gökçay G, Demirkol M. Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar. Çocuk Dergisi. July 2012;12(3):113-116. doi:10.5222/j.child.2012.113
Chicago Ersoy, Melike, Gülden Gökçay, and Mübeccel Demirkol. “Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar”. Çocuk Dergisi 12, no. 3 (July 2012): 113-16. https://doi.org/10.5222/j.child.2012.113.
EndNote Ersoy M, Gökçay G, Demirkol M (July 1, 2012) Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar. Çocuk Dergisi 12 3 113–116.
IEEE M. Ersoy, G. Gökçay, and M. Demirkol, “Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar”, Çocuk Dergisi, vol. 12, no. 3, pp. 113–116, 2012, doi: 10.5222/j.child.2012.113.
ISNAD Ersoy, Melike et al. “Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar”. Çocuk Dergisi 12/3 (July 2012), 113-116. https://doi.org/10.5222/j.child.2012.113.
JAMA Ersoy M, Gökçay G, Demirkol M. Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar. Çocuk Dergisi. 2012;12:113–116.
MLA Ersoy, Melike et al. “Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar”. Çocuk Dergisi, vol. 12, no. 3, 2012, pp. 113-6, doi:10.5222/j.child.2012.113.
Vancouver Ersoy M, Gökçay G, Demirkol M. Sitopeni Etiyolojisinde Doğumsal Metabolik Hastalıklar. Çocuk Dergisi. 2012;12(3):113-6.