Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome

Yoon, Byung Gyu; Kim, Hee Na; Han, Ui Joung; Jang, Hae In; Han, Dong Kyun; Baek, Hee Jo; Hwang, Tai Ju; Kook, Hoon

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자료유형: 학술저널

저자정보: 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)

저널정보: 대한소아청소년과학회 Clinical and Experimental Pediatrics Korean journal of pediatrics 제57권 제3호

발행연도: 2014.1

수록면: 125 - 134 (10page)

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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.

#Fanconi anemia #Korean #Stem cell transplantation #Long-term outcome

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