Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Diamond-Blackfan anemia: long-term follow-up of six cases

Diamond-Blackfan 빈혈: 6예 장기간 추적관찰보고

  • Son, Young Jun (St. Carollos Hospital) ;
  • Baek, Hee Jo (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Kook, Hoon (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School)
  • 손영준 (순천 성가롤로병원) ;
  • 백희조 (전남대학교 의과대학 화순전남대병원 소아과학교실) ;
  • 국훈 (전남대학교 의과대학 화순전남대병원 소아과학교실)
  • Received : 2008.05.06
  • Accepted : 2008.09.04
  • Published : 2008.11.15
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Abstract

Purpose : Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. Methods : Medical records of 6 patients diagnosed to have DBA and admitted to the Chonnam National University Hospital between 1992 and 2008 were retrospectively reviewed. Results : Three patients were males. The age at diagnosis ranged from 3 to 18 months (median, 5.5 months). Heart defects were observed in 4, polydactyly in 2, and strabismus in 1 patient. The median number of transfusions was 3 (range, 2-8). All patients responded to initial treatment with steroids and had a hemoglobin level ${\geq}9g/dL$ with a median of 12.5 days (range, 7-22 days). Three patients are currently not receiving steroid therapy. A minimum dose of oral prednisolone (<5 mg per day) was required to maintain hemoglobin ${\geq}9mg/dL$ in 3 cases. Red cell transfusion was infrequently required in 1 patient. In the median follow-up of 14 years, there was no development of malignancy. No significant side effects of steroids were found, except for short stature in 2. Conclusion : The majority of DBA patients achieved complete response and under maintenance therapy with low dose of steroids. Close observation is needed to monitor steroid side effects, cardiac function, and development of malignancy. A nation-wide survey is necessary to further characterize this rare disease in Korean children.

목 적: DBA는 적혈구 저형성증, 선천성 기형, 그리고 암으로 진행할 수 있는 가능성을 지닌 드문 유전성 질환이다. Corticosteroid와 수혈이 주된 치료이다. 본 연구에서는 16년 동안 경험했던 6명의 환아의 임상양상, 혈액학적 특징, 치료 및 경과에 대해 기술하고자 한다. 방 법: 1992년부터 2008년까지 전남대학교병원에서 DBA로 진단 받은 6명의 환아의 의무기록을 후향적으로 고찰하였다. 결 과: 6명 중 3명의 환자는 남아였고, 진단 당시 나이는 2개월에서 18개월(중앙값, 5.5개월)사이였다. 4명의 환자에서 선천성 심장기형이 동반되었고, 그 외 기형으로 다지증이 2명, 사시가 1명에서 발견되었다. 수혈은 2회에서 8회까지 시행되었으며, 진단 후 모든 환자는 스테로이드로 치료를 시작하였다. 치료 시작 후 혈색소 수치가 9 g/dL 이상으로 반응을 보인 시기의 중앙값 12.5일(범위, 7-22일)이었다. 치료 시작 후 3명의 환자는 스테로이드 투약을 점감한 후 투약을 중지하였고, 3명의 환자에서 최소량의 prednisolone (${\leq}5mg$/일)로 투약을 지속하고 있다. 환자들의 추적 관찰기간의 중앙값은 14년이며 추적 관찰 중 저신장을 제외하고 스테로이드와 관련된 부작용이나 암의 발생은 발견되지 않았다. 결 론: DBA 환자의 대부분 스테로이드 치료에 반응을 보이며 저용량으로 혈색소 수치를 유지할 수 있다. 하지만 스테로이드의 장기복용으로 인한 부작용 및 심장기능, 암의 발병 등에 대한 보다 적극적인 추적관찰이 요구되고, 국내 DBA 환자들에 대한 대단위 연구도 병행되어야 할 것으로 생각된다.

Keywords

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