Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası

Nalan Karabayır; Servet Erdal Adal; Arzu Akçay; Türkan Uygur

doi:10.5222/j.child.2013.043

Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası

Yıl 2013, , 43 - 46, 01.01.2013

Nalan Karabayır Servet Erdal Adal Arzu Akçay Türkan Uygur

https://doi.org/10.5222/j.child.2013.043

Öz

Shwachman Diamond sendromu SDS kemik iliği disfonk- siyonu, ekzokrin pankreas yetersizliği, büyüme gelişme geriliği ve iskelet anomalileri ile karakterize otozomal resesif geçişli ender bir hastalıktır. Fanconi anemisi ve Diamond-Blacfan anemisinden sonra 3. sıklıkta görülen konjenital kemik iliği yetersizliği olan SDS 1/75000 sıklı- ğında saptanmaktadır. Tanı genellikle erken çocukluk döneminde ortaya çıkan hematolojik bozukluklarla konur. Bu makalede yenidoğan döneminde Shwacman-Diamond sendromu SDS tanısı konan ve yüksek doz G- CSF veril- mesine rağmen, nötropenisi persiste eden bir yenidoğan vakası sunulmuştur

Anahtar Kelimeler

Kemik iliği yetersizliği, Shwachman Diamond sendromu, yenidoğan

Kaynakça

1. Dror Y. Review: Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901. http://dx.doi.org/10.1002/pbc.20478 PMid:16047374
2. Burroughs L, Woolfrey A, Shimamura A. ShwachmanDiamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis and Treatment. Hematol Oncol Clin N Am 2009;23:233-48. http://dx.doi.org/10.1016/j.hoc.2009.01.007 PMid:19327581 PMCid:2754297
3. Kuijpers TW, Nannenberg E, Alders M, et al. Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. Pediatrics 2004;114:387-91. http://dx.doi.org/10.1542/peds.2003-0651-F PMid:15342903
4. Black VL, Soltau T, Kelly DR, Berkow RL. ShwachmanDiamond Syndrome Presenting in a Premature Infant as Pancytopenia. Pediatr Blood Cancer 2008;51:123-44. http://dx.doi.org/10.1002/pbc.21550 PMid:18322927
5. Smith OP, Hann IM, Chessells JM, et al. Haemotological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 1996;94:279-84. http://dx.doi.org/10.1046/j.1365-2141.1996.d01-1788.x PMid:8759887
6. Wessels D, Srikantha T, Yi S, Kuhl S, Aravind L, Soll DR. The Shwachman-Bodian-Diamond syndrome gene encodes an RNA- binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci 2006;119:370-9. http://dx.doi.org/10.1242/jcs.02753 PMid:16410554
7. Mack DR. Shwachman syndrome. J Pediatrics 2002;141:164-5.PMid:12183708
8. Spoto-Cannons AC. Schwasmann Diamond Syndrome. http://emedicine.medscape.com/article/958476-print)
9. Makititie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet 2004;65:101-12. http://dx.doi.org/10.1111/j.0009-9163.2004.00198.x
10. Mack DR, Forstner GG, Wilshanski M, et al. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-602. http://dx.doi.org/10.1016/S0016-5085(96)70022-7
11. Ginzberg H, Shin J, Ellis L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135:81-88.) http://dx.doi.org/10.1016/S0022-3476(99)70332-X
12. Marck DR, Forstner GG, Wilschanski M, et al. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-160. http://dx.doi.org/10.1016/S0016-5085(96)70022-7
13. Alter PB. Shwachman-Diamond syndrome. In: Nathan DG, Orkin Sh. Editors. Nathan and Oski’s hematology of infancy and childhood 6th ed, vol 1. Philadelphia WB Saunders. 2003;306-9.

A Case of Shwachman Diamond Syndrome in Neonate

Yıl 2013, , 43 - 46, 01.01.2013

Nalan Karabayır Servet Erdal Adal Arzu Akçay Türkan Uygur

https://doi.org/10.5222/j.child.2013.043

Öz

Shwachman Diamond Syndrome SDS is a rare autosomal recessive disease characterized with bone marrow dysfunc- tion, exocrine pancreatic insufficiency, growth and deve- lopmental delay and skeletal abnormalities. The condition which is recognized as a bone marrow failure ranks at the 3rd row of a disease which is frequently seen after Fanconi anemia and Diamond-Blackfan anemia and it’s incidence is nearly 1/75000. Usually, diagnosis is possible at early childhood due to hematological disorders. In this article, a newborn diagnosed with Shwachman-Diamond Syndrome SDS and having persisting neutropenia is presented

Anahtar Kelimeler

Newborn, bone marrow failure, Shwachman Diamond syndrome

Kaynakça

1. Dror Y. Review: Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901. http://dx.doi.org/10.1002/pbc.20478 PMid:16047374
2. Burroughs L, Woolfrey A, Shimamura A. ShwachmanDiamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis and Treatment. Hematol Oncol Clin N Am 2009;23:233-48. http://dx.doi.org/10.1016/j.hoc.2009.01.007 PMid:19327581 PMCid:2754297
3. Kuijpers TW, Nannenberg E, Alders M, et al. Congenital aplastic anemia caused by mutations in the SBDS gene: A rare presentation of Shwachman-Diamond syndrome. Pediatrics 2004;114:387-91. http://dx.doi.org/10.1542/peds.2003-0651-F PMid:15342903
4. Black VL, Soltau T, Kelly DR, Berkow RL. ShwachmanDiamond Syndrome Presenting in a Premature Infant as Pancytopenia. Pediatr Blood Cancer 2008;51:123-44. http://dx.doi.org/10.1002/pbc.21550 PMid:18322927
5. Smith OP, Hann IM, Chessells JM, et al. Haemotological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 1996;94:279-84. http://dx.doi.org/10.1046/j.1365-2141.1996.d01-1788.x PMid:8759887
6. Wessels D, Srikantha T, Yi S, Kuhl S, Aravind L, Soll DR. The Shwachman-Bodian-Diamond syndrome gene encodes an RNA- binding protein that localizes to the pseudopod of Dictyostelium amoebae during chemotaxis. J Cell Sci 2006;119:370-9. http://dx.doi.org/10.1242/jcs.02753 PMid:16410554
7. Mack DR. Shwachman syndrome. J Pediatrics 2002;141:164-5.PMid:12183708
8. Spoto-Cannons AC. Schwasmann Diamond Syndrome. http://emedicine.medscape.com/article/958476-print)
9. Makititie O, Ellis L, Durie PR, et al. Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. Clin Genet 2004;65:101-12. http://dx.doi.org/10.1111/j.0009-9163.2004.00198.x
10. Mack DR, Forstner GG, Wilshanski M, et al. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-602. http://dx.doi.org/10.1016/S0016-5085(96)70022-7
11. Ginzberg H, Shin J, Ellis L, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999;135:81-88.) http://dx.doi.org/10.1016/S0022-3476(99)70332-X
12. Marck DR, Forstner GG, Wilschanski M, et al. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996;111:1593-160. http://dx.doi.org/10.1016/S0016-5085(96)70022-7
13. Alter PB. Shwachman-Diamond syndrome. In: Nathan DG, Orkin Sh. Editors. Nathan and Oski’s hematology of infancy and childhood 6th ed, vol 1. Philadelphia WB Saunders. 2003;306-9.

Toplam 13 adet kaynakça vardır.

Ayrıntılar

Birincil Dil	Türkçe
Bölüm	Araştırma Makaleleri
Yazarlar	Nalan Karabayır Bu kişi benim Servet Erdal Adal Bu kişi benim Arzu Akçay Bu kişi benim Türkan Uygur Bu kişi benim
Yayımlanma Tarihi	1 Ocak 2013
Yayımlandığı Sayı	Yıl 2013

Kaynak Göster

APA	Karabayır, N., Adal, S. E., Akçay, A., Uygur, T. (2013). Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası. Çocuk Dergisi, 13(1), 43-46. https://doi.org/10.5222/j.child.2013.043
AMA	Karabayır N, Adal SE, Akçay A, Uygur T. Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası. Çocuk Dergisi. Ocak 2013;13(1):43-46. doi:10.5222/j.child.2013.043
Chicago	Karabayır, Nalan, Servet Erdal Adal, Arzu Akçay, ve Türkan Uygur. “Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası”. Çocuk Dergisi 13, sy. 1 (Ocak 2013): 43-46. https://doi.org/10.5222/j.child.2013.043.
EndNote	Karabayır N, Adal SE, Akçay A, Uygur T (01 Ocak 2013) Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası. Çocuk Dergisi 13 1 43–46.
IEEE	N. Karabayır, S. E. Adal, A. Akçay, ve T. Uygur, “Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası”, Çocuk Dergisi, c. 13, sy. 1, ss. 43–46, 2013, doi: 10.5222/j.child.2013.043.
ISNAD	Karabayır, Nalan vd. “Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası”. Çocuk Dergisi 13/1 (Ocak 2013), 43-46. https://doi.org/10.5222/j.child.2013.043.
JAMA	Karabayır N, Adal SE, Akçay A, Uygur T. Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası. Çocuk Dergisi. 2013;13:43–46.
MLA	Karabayır, Nalan vd. “Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası”. Çocuk Dergisi, c. 13, sy. 1, 2013, ss. 43-46, doi:10.5222/j.child.2013.043.
Vancouver	Karabayır N, Adal SE, Akçay A, Uygur T. Yenidoğan Döneminde Tanı Konan Bir ShwachmanDiamond Sendromu Vakası. Çocuk Dergisi. 2013;13(1):43-6.