Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

  • Yoon, Byung Gyu (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Kim, Hee Na (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Han, Ui Joung (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Jang, Hae In (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Han, Dong Kyun (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Baek, Hee Jo (Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School) ;
  • Hwang, Tai Ju (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)
  • Received : 2013.08.16
  • Accepted : 2013.10.17
  • Published : 2014.03.15
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Abstract

Purpose: The aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease. Methods: The medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed. Results: The median age at diagnosis was 6.2 years. All patients showed evidence of marrow failure and one or more physical stigmata. Chromosome breakage tests were positive in 9 out of 11 available patients. The median follow-up duration was 69.5 months. The Kaplan-Meier (KM) survival of all patients was 83.3% at 10 years and 34.7% at 20 years, respectively. Seven patients underwent 9 stem cell transplantations (SCTs). Among them, 5 were alive by the end of the study. Ten-year KM survival after SCT was 71.4% with a median follow-up of 3.4 years. All 5 patients treated with supportive treatment alone died of infection or progression at the median age of 13.5 years, except for one with short followup duration. Acute leukemia developed in 2 patients at 15.4 and 18.1 years of age. Among 6 patients who are still alive, 3 had short stature and 1 developed insulin-dependent diabetes mellitus. Conclusion: We provide information on the long-term outcomes of FA patients in Korea. A nation-wide FA registry that includes information of the genotypes of Korean patients is required to further characterize ethnic differences and provide the best standard of care for FA patients.

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References

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