PurposeThe aim of this study was to characterize Korean patients with Fanconi anemia (FA), which is a rare but very challenging genetic disease.MethodsThe medical records of 12 FA patients diagnosed at Chonnam National University Hospital from 1991 to 2012 were retrospectively reviewed.ResultsThe 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.ConclusionWe 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.

Background and ObjectivesPatent ductus arteriosus (PDA) is associated with increased morbidity and mortality in premature infants. Therefore, an early diagnosis and treatment of a hemodynamically significant PDA are very important. A widened pulse pressure is considered to be a well known clinical sign of a PDA in older infants and children; however, whether this is also applicable in the case of preterm infants remains to be confirmed. The aims of this study were to investigate the change in blood pressure (BP) before and after medical treatment of a PDA with indomethacin and to evaluate if the change in the pulse pressure in preterm infants with a medically treated PDA could be used as a reliable clinical predictor of a hemodynamically significant PDA.Subjects and MethodsBetween January 2005 and June 2009, a retrospective analysis was performed in preterm infants with a hemodynamically significant PDA (PDA group, n=72) and preterm infants without a PDA (control group, n=72) at the Chonnam National University Hospital Neonatal Intensive Care Unit. The PDA was closed by treatment with indomethacin. The BP was compared between the two groups over the seven days after the first dose of indomethacin.ResultsIn preterm infants with a hemodynamically significant PDA, the mean systolic (55.1±6.0 mmHg) and diastolic BPs (31.4±6.2 mmHg) were lower than those in the controls (mean systolic BP 58.0±6.4 mmHg, mean diastolic BP 34.7±6.0 mmHg) before indomethacin treatment. When the ductus arteriosus was successfully closed by indomethacin treatment, there was a gradual increase in both the systolic and diastolic BPs without any change in the pulse pressure.ConclusionThe results of this study show that a widened pulse pressure is not a useful clinical sign of a hemodynamically significant PDA in preterm infants. However, low systolic and diastolic BPs may be useful clinical signs of a hemodynamically significant PDA in preterm infants. If the systolic and diastolic BP is low, a PDA should be considered and echocardiography should be performed for early diagnosis and treatment.