지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 249 - 254 (6page)
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초록· 키워드
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Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red blood cell transfusions are the mainstays of therapy. We describe a case of 3-month-old infant who presented with severe anemia, elevated levels of HbF and adenosine deaminase and bilateral hydronephrosis, who was later confirmed as DBA by mutation analysis using the direct sequencing method. Direct sequencing analysis of RPS19 gene was performed with both cDNA and genomic DNA extracted from peripheral blood and a c.3G>A point mutation of exon 2 resulting in p.Met1Ile was identified in this patient. The patient showed an inadequate response to steroid therapy and a partial response to RBC transfusion with a follow-up Hb level of 8.3 g/dL on her last visit to the outpatient clinic. DBA is a genetically and phenotypically heterogeneous disease, and we have reviewed the clinical characteristics of 25 Korean patients thus far reported in the literature. To our knowledge, this is the first case of DBA confirmed by mutation analysis in Korea, and mutation identification using molecular method is recommended for confirmation of this genetically and phenotypically heterogeneous disease. (Korean J Lab Med 2010;30:249-54)
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참고문헌 (32)
참고문헌 신청
Bessler M / 2009 / Inherited bone marrow failure syndromes associated with isolated cytopenias. In: Orkin SH, Nathan DG, et al. eds. Nathan and Oski’s hematology of infancy and childho
Campagnoli MF / 2004 / Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature / Haematologica 89 : 480 ~ 489
Campagnoli MF / 2008 / RPS19 mutations in patients with Diamond-Blackfan anemia / Hum Mutat 29 : 911 ~ 920
Chen S / 2005 / Diamond-blackfan anemia and growth status: the French registry / J Pediatr 147 : 669 ~ 673
Diamond LK / 1938 / Hypoplastic anemia / Am J Dis Child 56 : 464 ~ 467
Campagnoli MF / 2004 / Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature / Haematologica 89 : 480 ~ 489
Campagnoli MF / 2008 / RPS19 mutations in patients with Diamond-Blackfan anemia / Hum Mutat 29 : 911 ~ 920
Chen S / 2005 / Diamond-blackfan anemia and growth status: the French registry / J Pediatr 147 : 669 ~ 673
Diamond LK / 1938 / Hypoplastic anemia / Am J Dis Child 56 : 464 ~ 467
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