Long-term follow-up of Fanconi anemia: clinical manifestation and treatment outcome.
10.3345/kjp.2014.57.3.125
- Author:
Byung Gyu YOON
1
;
Hee Na KIM
;
Ui Joung HAN
;
Hae In JANG
;
Dong Kyun HAN
;
Hee Jo BAEK
;
Tai Ju HWANG
;
Hoon KOOK
Author Information
1. Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea. hoonkook@chonnam.ac.kr
- Publication Type:Original Article
- Keywords:
Fanconi anemia;
Korean;
Stem cell transplantation;
Long-term outcome
- MeSH:
Bone Marrow;
Christianity;
Chromosome Breakage;
Diabetes Mellitus, Type 1;
Diagnosis;
Fanconi Anemia*;
Follow-Up Studies*;
Genotype;
Humans;
Jeollanam-do;
Korea;
Leukemia;
Medical Records;
Retrospective Studies;
Standard of Care;
Stem Cell Transplantation;
Treatment Outcome*
- From:Korean Journal of Pediatrics
2014;57(3):125-134
- CountryRepublic of Korea
- Language:English
-
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.
