Two Cases of Infant Hemophilia A Patients with Inhibitors / 임상소아혈액종양

Development of inhibitors is currently one of the most serious complications of hemophilia treatment. Typically, the propensity to develop an inhibitor is likely influenced by both genetic and non-genetic factors. Hemophilia patients with inhibitors are partially or completely refractory to traditional replacement of the deficient clotting factors and are at increased risk of bleeding as compared to patients without inhibitors. Several cases of infant hemophilia A with inhibitor have been reported in other countries, but no such patient has so far been reported in South Korea. We report two infants affected by hemophilia A with inhibitors, both of whom had bleeding episodes that were successfully treated with recombinant activated factor VII. Clinicians should remain aware of potential inhibitor development in infant hemophilia A patients and such patients should be carefully monitored.

Two Cases of Infant Hemophilia A Patients with Inhibitors / 임상소아혈액종양

Development of inhibitors is currently one of the most serious complications of hemophilia treatment. Typically, the propensity to develop an inhibitor is likely influenced by both genetic and non-genetic factors. Hemophilia patients with inhibitors are partially or completely refractory to traditional replacement of the deficient clotting factors and are at increased risk of bleeding as compared to patients without inhibitors. Several cases of infant hemophilia A with inhibitor have been reported in other countries, but no such patient has so far been reported in South Korea. We report two infants affected by hemophilia A with inhibitors, both of whom had bleeding episodes that were successfully treated with recombinant activated factor VII. Clinicians should remain aware of potential inhibitor development in infant hemophilia A patients and such patients should be carefully monitored.

Renal Problems in Early Adult Patients with Turner Syndrome

PURPOSE: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). METHODS: Sixty-three girls with TS, who are attending pediatric endocrine clinics in Busan Paik Hosp., were studied. Urine and blood chemistry tests were performed in every visiting times. Renal ultrasonography was performed in all patients at the initial diagnosis, and intravenous pyelography, DMSA renal scan and renal CT were also performed, if necessary. RESULTS: Of the 63 patients, the karyotype showed 45,X in 32 (50.8%) , mosaicism in 22 (34.9%) and structural aberration in 9 (14.3%). The renal function at the latest visit was shown as normal in all patients. Nephrotic syndrome had developed in one patient. Hematuria was observed in seven patients. Renal anomalies were observed in 20 of the 63 TS (31.7%). Of the 32 TS patients with 45,X karyotype, 13 (40.6%) had renal anomalies, while these were found in 7 (22.6%) of 31 TS patients with mosaicism/structural aberration. But there was no significant statistical difference between two karyotype groups. CONCLUSION: Based on this study, most of the patients with TS do not have any significant problems related to renal function until early adulthood, regardless of renal malformation or hematuria.