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Korean J Pediatr. 2014 Mar;57(3):125-34. doi: 10.3345/kjp.2014.57.3.125. Epub 2014 Mar 31.

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

Author information

1
Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea.
2
Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea. ; Environmemtal Health Center for Childhood Leukemia and Cancer, Hwasun, Korea.

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 follow-up 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.

KEYWORDS:

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

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